|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, J|
|Synonyms||CD148, Byp, Scc1, Scc-1, DEP-1, RPTPJ|
|Is this an essential gene?||Probably non essential (E-score: 0.187)|
|Stock #||R6972 (G1)|
|Chromosomal Location||90429754-90580647 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 90580403 bp|
|Amino Acid Change||Serine to Phenylalanine at position 62 (S62F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129592 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000168621]|
|Predicted Effect||possibly damaging
AA Change: S62F
PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S62F
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die in utero displaying severe growth retardation and cardiovascular defects. Homozygotes for a second null allele are viable, fertile and healthy with no spontaneous tumor formation. Homozygotes for a third null allele show sterility and a block B cell development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprj||
(F):5'- CACTCGAGAGCTTACCTGGC -3'
(R):5'- CCATCCATACTAGCTCGTGG -3'
(F):5'- AGAGCTTACCTGGCCCTGG -3'
(R):5'- TCCCGAGTCCCAGGAATGTG -3'