|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 18|
|Synonyms||PTP-K1, FLP1, PTP-HSCF, HSCF, Ptpk1|
|Is this an essential gene?||Probably non essential (E-score: 0.117)|
|Stock #||R7678 (G1)|
|Chromosomal Location||34459762-34475733 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 34473364 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Asparagine at position 417 (D417N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027302 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000188972] [ENSMUST00000190122]|
AA Change: D417N
PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: D417N
AA Change: D68N
PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
|MGI Phenotype||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, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn18||
(F):5'- AGACCTCCGAACTTGGACAC -3'
(R):5'- GATGCGCAAGTTGAAGCCTAAG -3'
(F):5'- AACTTGGACACGCCCATGG -3'
(R):5'- GGCTCCATGCAGAAGCTAAG -3'