|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, M|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1873 (G1)|
|Chromosomal Location||66666947-67354457 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 66688355 bp|
|Amino Acid Change||Valine to Isoleucine at position 1293 (V1293I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045603 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037974] [ENSMUST00000223982]|
|Predicted Effect||probably damaging
AA Change: V1293I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V1293I
|Predicted Effect||possibly damaging
AA Change: V1259I
PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2421|
|Coding Region Coverage||
|Validation Efficiency||98% (82/84)|
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, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprm||
(F):5'- CAAATCTTTGCCGGGCCATG -3'
(R):5'- CCATTTTGGAGTTGACAAGGATG -3'
(F):5'- GTGGGGCTTGCACATCTTATACAAAC -3'
(R):5'- TTTTGGAGTTGACAAGGATGATAGAG -3'