Ptprk - SNV Details



 Gene Information 
Gene Name Ptprk
Old Gene Names for Ptprk Ai853699
Gene Description protein tyrosine phosphatase, receptor type, K [Source:MGI Symbol;Acc:MGI:103310]
Uniprot Name
CCDS Name
Gene GO
cellular response to UV; negative regulation of cell migration; cellular response to reactive oxygen species; leading edge membrane; membrane; protein dephosphorylation; negative regulation of transcription
DNA-templated; beta-catenin binding; signal transduction; cell adhesion; dephosphorylation; focal adhesion assembly; negative regulation of cell cycle; negative regulation of keratinocyte proliferation; gamma-catenin binding; protein tyrosine phosphatase activity; cell-cell junction; protein binding; cell surface; integral component of membrane; neuronal cell body; neuron projection development; negative regulation of cell proliferation; transforming growth factor beta receptor signaling pathway; axon; cell migration; protein localization to cell surface; dendrite; protein kinase binding; peptidyl-tyrosine dephosphorylation; photoreceptor outer segment; phosphatase activity
Homolog in other species PTPRK
Omim http://omim.org/entry/602545
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019889
Chromosome 10
Coordinate 28,592,811     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 36
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL02713
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved