Pkd2 - SNV Details



 Gene Information 
Gene Name Pkd2
Old Gene Names for Pkd2 C030034p18rik
Gene Description polycystic kidney disease 2 [Source:MGI Symbol;Acc:MGI:1099818]
MGI phenotype Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity.
Uniprot Name
CCDS Name
Gene GO
JAK-STAT cascade; spinal cord development; cellular response to osmotic stress; cilium; mitotic spindle; detection of nodal flow; membrane; potassium ion transmembrane transport; cell cycle arrest; positive regulation of transcription from RNA polymerase II promoter; potassium channel activity; metanephric mesenchyme development; sodium ion transmembrane transport; channel activity; cytoplasm; metanephric part of ureteric bud development; cellular response to hydrostatic pressure; neural tube development; ATPase binding; metanephric smooth muscle tissue development; liver development; voltage-gated sodium channel activity; aorta development; negative regulation of ryanodine-sensitive calcium-release channel activity; endoplasmic reticulum membrane; metanephric ascending thin limb development; endoplasmic reticulum; cilium part; microtubule basal body; detection of mechanical stimulus; metanephric cortex development; motile primary cilium; mesonephric tubule development; filamentous actin; calcium ion transport; renal artery morphogenesis; voltage-gated ion channel activity; protein homodimerization activity; integral to plasma membrane; mesonephric duct development; cytoplasmic sequestering of transcription factor; cell-cell junction; protein binding; ion channel binding; regulation of cAMP metabolic process; polycystin complex; kidney development; renal tubule morphogenesis; regulation of calcium ion import; calcium-induced calcium release activity; ion channel activity; actinin binding; regulation of cell proliferation; branching involved in ureteric bud morphogenesis; lamellipodium; integral to lumenal side of endoplasmic reticulum membrane; metanephric distal tubule development; ion transport; basal cortex; negative regulation of G1/S transition of mitotic cell cycle; HLH domain binding; embryonic placenta development; determination of left/right symmetry; integral to cytosolic side of endoplasmic reticulum membrane; determination of heart left/right asymmetry; positive regulation of nitric oxide biosynthetic process; basal plasma membrane; voltage-gated calcium channel activity; placenta blood vessel development; voltage-gated cation channel activity; transmembrane transport; positive regulation of inositol 1
4
5-trisphosphate-sensitive calcium-release channel activity; plasma membrane; positive regulation of cell cycle arrest; identical protein binding; receptor binding; metanephric S-shaped body morphogenesis; calcium channel activity; calcium ion transmembrane transport; heart development; calcium ion binding; nonmotile primary cilium; cellular calcium ion homeostasis; cytoskeletal protein binding; metanephric cortical collecting duct development; cellular response to fluid shear stress; release of sequestered calcium ion into cytosol; positive regulation of gene expression; positive regulation of cyclin-dependent protein kinase activity involved in G1/S
Homolog in other species PKD2
Omim http://omim.org/entry/607074
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034462
Chromosome 5
Coordinate 104,477,075     (Assembly: GRCm38)    
Ref Base T
Codon Change Tac/Cac
Var Base C
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.56
C:V0.31
Amino Acid Position 246
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02326
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.03
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved