Pkd1l2 - SNV Details



 Gene Information 
Gene Name Pkd1l2
Old Gene Names for Pkd1l2 1700126l06rik
Gene Description polycystic kidney disease 1 like 2 [Source:MGI Symbol;Acc:MGI:2664668]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; neuropeptide signaling pathway; protein binding; ion channel activity; carbohydrate binding; ion transport; transmembrane transport; biological_process; calcium ion binding
Homolog in other species PKD1L2
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
LOW
MEDIAN
MEDIAN
MEDIAN
MEDIAN(HIGH IN THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034416
Chromosome 8
Coordinate 117,080,732     (Assembly: GRCm38)    
Ref Base T
Codon Change tAt/tTt
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.57
A:V0.43
Amino Acid Position 189
Amino Acid Change Y->F (Tyrosine -> Phenylalanine)
Sample ID IGL01672
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000095977:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
D-galactoside/L-rhamnose binding SUEL lectin domain Lectin_gal-bd_dom IPR000922 ENSMUSP00000095977 Pfam 168
250 Description available Search pathways
D-galactoside/L-rhamnose binding SUEL lectin domain Lectin_gal-bd_dom IPR000922 ENSMUSP00000095977 Prosite_profiles 160
251 Description available Search pathways

 Availability Details 
Availability