Ptpre - SNV Details



 Gene Information 
Gene Name Ptpre
Gene Description protein tyrosine phosphatase, receptor type, E [Source:MGI Symbol;Acc:MGI:97813]
Uniprot Name
CCDS Name
Gene GO
regulation of mast cell activation; transmembrane receptor protein tyrosine phosphatase signaling pathway; protein dephosphorylation; integral to membrane; negative regulation of insulin receptor signaling pathway; cytoplasm; dephosphorylation; protein homodimerization activity; protein tyrosine phosphatase activity; protein binding; nucleus; intermediate filament cytoskeleton; protein phosphorylation; plasma membrane; peptidyl-tyrosine dephosphorylation; phosphatase activity
Homolog in other species PTPRE
Omim http://omim.org/entry/600926
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041836
Chromosome 7
Coordinate 135,659,102     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gTa
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.53
T:V0.47
Amino Acid Position 156
Amino Acid Change E->V (Glutamic acid -> Valine)
Sample ID IGL02108
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000073616:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Protein-tyrosine phosphatase, receptor/non-receptor type Tyr_Pase_rcpt/non-rcpt IPR000242 ENSMUSP00000073616 Prosite_profiles 134
393 Description available Search pathways
Protein-tyrosine phosphatase, receptor/non-receptor type Tyr_Pase_rcpt/non-rcpt IPR000242 ENSMUSP00000073616 Smart 133
395 Description available Search pathways
Receptor tyrosine-protein phosphatase, alpha/epsilon-type Tyr_Pase_rcpt_a/e-type IPR016336 ENSMUSP00000073616 PIRSF 1
699 Description available Search pathways

 Availability Details 
Availability