Ptprr - SNV Details



 Gene Information 
Gene Name Ptprr
Gene Description protein tyrosine phosphatase, receptor type, R [Source:MGI Symbol;Acc:MGI:109559]
MGI phenotype Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.
Uniprot Name
CCDS Name
Gene GO
protein dephosphorylation; integral to membrane; cytoplasm; dephosphorylation; protein tyrosine phosphatase activity; cell surface; nucleus; in utero embryonic development; neuron differentiation; plasma membrane; protein kinase binding; peptidyl-tyrosine dephosphorylation; phosphatase activity; Golgi apparatus
Homolog in other species PTPRR
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020151
Chromosome 10
Coordinate 116,188,317     (Assembly: GRCm38)    
Ref Base A
Codon Change Acc/Gcc
Var Base G
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Position 285
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01123
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.73
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000064392:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 Tyr_Pase_rcpt_R/non-rcpt_5 IPR016334 ENSMUSP00000064392 PIRSF 1
656 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved