|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 1|
|Is this an essential gene?||Probably essential (E-score: 0.913)|
|Stock #||R7296 (G1)|
|Chromosomal Location||167932057-167979385 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 167974772 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 249 (V249A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029053 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029053]|
AA Change: V249A
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V249A
|Coding Region Coverage||
|Validation Efficiency||98% (85/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. 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 has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn1||
(F):5'- GTACGCTAAGACATCCACGG -3'
(R):5'- GCTAGGAACAGAGCTGAACACC -3'
(F):5'- GCTAAGACATCCACGGGGTAC -3'
(R):5'- CACCAACATGTATTCTTGAAGCAGAG -3'