Pkd1 - SNV Details



 Human Rare Diseases 
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

 Gene Information 
Gene Name Pkd1
Gene Description polycystic kidney disease 1 homolog [Source:MGI Symbol;Acc:MGI:97603]
MGI phenotype Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.
Uniprot Name
CCDS Name
Gene GO
JAK-STAT cascade; metanephric distal tubule morphogenesis; blood vessel development; spinal cord development; cilium; membrane; cation channel activity; integral to membrane; cell cycle arrest; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; neural tube development; cartilage condensation; metanephric ascending thin limb development; skin development; lung epithelium development; detection of mechanical stimulus; motile primary cilium; calcium ion transport; branching morphogenesis of a tube; neuropeptide signaling pathway; mesonephric duct development; cytoplasmic sequestering of transcription factor; protein binding; metanephric collecting duct development; ion channel binding; polycystin complex; cell-cell adhesion; peptidyl-serine phosphorylation; kidney development; nucleus; protein export from nucleus; in utero embryonic development; protein domain specific binding; carbohydrate binding; digestive tract development; embryonic placenta development; placenta blood vessel development; plasma membrane; calcium channel activity; calcium ion transmembrane transport; heart development; basolateral plasma membrane; protein kinase binding; metanephric proximal tubule development; genitalia development; positive regulation of protein binding; positive regulation of cyclin-dependent protein kinase activity involved in G1/S
Homolog in other species PKD1
Omim http://omim.org/entry/601313
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032855
Chromosome 17
Coordinate 24,573,623     (Assembly: GRCm38)    
Ref Base T
Codon Change aTc/aAc
Var Base A
Zygosity Heterozygous
Read Depth 45
Allele Frequency
T:R0.38
A:V0.62
Amino Acid Position 1428
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02409
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.06
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000049296:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Polycystin cation channel Polycystin_cat IPR006228 ENSMUSP00000049296 TIGRfam 97
2723 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved