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
CCDS 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
Omim http://omim.org/entry/607895
Immgen Expression
MEDIAN
Gnf Expression
LOW
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
C:R0.51
T:V0.49
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

 Predictions 
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