|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 22 (lymphoid)|
|Is this an essential gene?||Probably essential (E-score: 0.856)|
|Stock #||R8129 (G1)|
|Chromosomal Location||103859795-103912247 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||G to A at 103890284 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000029433 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000146071]|
|PDB Structure||Solution structure of the SH3 domain from C-terminal Src Kinase complexed with a peptide from the tyrosine phosphatase PEP [SOLUTION NMR]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (99/101)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice display antigen dependent increases in T cell proliferation and cytokine production, enlarged spleens and lymph nodes, increased spontaneous germinal center formation, increased B cell numbers, and increased serum IgG and IgE levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn22||
(F):5'- GTGAAGAACAATTAGCCCTTTTCAG -3'
(R):5'- TAAAGGACCTTGCCCTTACTTTGC -3'
(F):5'- AGATCACTGTAAGAGTTAAGGGTTCC -3'
(R):5'- CTTACTTTGCCCATGACAGAAC -3'