Ptprc - SNV Details



 Human Rare Diseases 
Severe combined immunodeficiency T- B+ due to CD45 deficiency

 Gene Information 
Gene Name Ptprc
Old Gene Names for Ptprc Cd45 , Ly-5 , Lyt-4
Gene Description protein tyrosine phosphatase, receptor type, C [Source:MGI Symbol;Acc:MGI:97810]
MGI phenotype Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death.
Uniprot Name
CCDS Name
Gene GO
negative regulation of protein autophosphorylation; activation of MAPK activity; regulation of humoral immune response mediated by circulating immunoglobulin; negative regulation of T cell mediated cytotoxicity; positive regulation of antigen receptor-mediated signaling pathway; membrane; protein dephosphorylation; regulation of cell cycle; positive regulation of T cell mediated cytotoxicity; negative regulation of peptidyl-tyrosine phosphorylation; dephosphorylation; negative thymic T cell selection; B cell differentiation; leukocyte cell-cell adhesion; positive regulation of T cell differentiation; negative regulation of cell adhesion involved in substrate-bound cell migration; membrane raft; positive regulation of MAPK cascade; negative regulation of protein kinase activity; positive regulation of gamma-delta T cell differentiation; protein tyrosine phosphatase activity; external side of plasma membrane; protein binding; positive regulation of T cell proliferation; regulation of B cell differentiation; cell surface; integral component of membrane; stem cell development; cell cycle phase transition; heterotypic cell-cell adhesion; response to gamma radiation; positive regulation of extrinsic apoptotic signaling pathway; positive regulation of stem cell proliferation; B cell proliferation; regulation of extrinsic apoptotic signaling pathway; extracellular vesicular exosome; positive regulation of B cell proliferation; heparin binding; positive regulation of T cell mediated immunity; defense response to virus; positive regulation of isotype switching to IgG isotypes; negative regulation of cytokine-mediated signaling pathway; T cell proliferation; bone marrow development; integral component of plasma membrane; positive thymic T cell selection; plasma membrane; immunoglobulin biosynthetic process; heparan sulfate proteoglycan binding; B cell receptor signaling pathway; protein kinase binding; cell periphery; release of sequestered calcium ion into cytosol; focal adhesion; peptidyl-tyrosine dephosphorylation; hematopoietic progenitor cell differentiation; phosphatase activity; regulation of B cell receptor signaling pathway; T cell differentiation; T cell receptor signaling pathway; positive regulation of alpha-beta T cell proliferation; positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of hematopoietic stem cell migration
Homolog in other species PTPRC
Omim http://omim.org/entry/151460
Immgen Expression
HIGH
Gnf Expression
MEDIAN
MEDIAN
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026395
Chromosome 1
Coordinate 138,093,001     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 36
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL03404
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved