Pkd1l3 - SNV Details

 Gene Information 
Gene Name Pkd1l3
Gene Description polycystic kidney disease 1 like 3 [Source:MGI Symbol;Acc:MGI:2664670]
MGI phenotype Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.
Uniprot Name
Gene GO
cation transmembrane transporter activity; sour taste receptor activity; membrane; cation channel activity; integral to membrane; neuropeptide signaling pathway; protein binding; cell surface; detection of chemical stimulus involved in sensory perception of sour taste; ion channel activity; carbohydrate binding; ion transport; cation transport; transmembrane transport; cellular response to acidity; calcium ion binding
Homolog in other species PKD1L3
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048827
Chromosome 8
Coordinate 109,635,302     (Assembly: GRCm38)    
Ref Base C
Codon Change aCa/aTa
Var Base T
Zygosity Heterozygous
Read Depth 35
Allele Frequency
Amino Acid Position 1002
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL01645
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.2
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved