Ptprs - SNV Details



 Gene Information 
Gene Name Ptprs
Old Gene Names for Ptprs Al022616
Gene Description protein tyrosine phosphatase, receptor type, S [Source:MGI Symbol;Acc:MGI:97815]
MGI phenotype Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impaired olfaction.
Uniprot Name
CCDS Name
Gene GO
spinal cord development; corpus callosum development; protein dephosphorylation; integral to membrane; cell adhesion; dephosphorylation; protein tyrosine phosphatase activity; protein binding; cerebellum development; cerebral cortex development; hippocampus development; phosphatase activity
Homolog in other species PTPRS
Omim http://omim.org/entry/601576
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000013236
Chromosome 17
Coordinate 56,458,243     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:R0.56
T:V0.44
Amino Acid Change G->S (Glycine -> Serine)
Sample ID IGL00979
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

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

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved