|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 12|
|Synonyms||P19-PTP, PTP-PEST, PTP-P19|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1018 (G1)|
|Chromosomal Location||20986645-21055911 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 21029869 bp (GRCm38)|
|Amino Acid Change||Serine to Threonine at position 39 (S39T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030556 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813] [ENSMUST00000199774]|
AA Change: S39T
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S39T
|Meta Mutation Damage Score||0.3904|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn12||
(F):5'- TGCTCCACGAGAAGAAACGGAGTC -3'
(R):5'- TTTGAGAGAGCCTGGCACATCCTG -3'
(F):5'- CCTTAGCTATTCAGTTCAGGAACAG -3'
(R):5'- AGGGGAAACCTGTGCTTAATTC -3'