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; detection of mechanical stimulus; neuropeptide signaling pathway; protein binding; integral component of membrane; ion channel activity; carbohydrate binding; ion transport; transmembrane transport; calcium channel activity; calcium ion transmembrane transport; 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 117,065,745     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 68
Allele Frequency
G:R0.53
A:V0.47
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL03059
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved