|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, K|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7810 (G1)|
|Chromosomal Location||28074820-28597397 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 28592857 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 1438 (H1438Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359] [ENSMUST00000220357]|
AA Change: H1424Q
PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: H1424Q
AA Change: H1438Q
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: H1412Q
PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|Coding Region Coverage||
|Validation Efficiency||99% (91/92)|
|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, 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 was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprk||
(F):5'- AAGATAAGTGTCCTTTCCCAGG -3'
(R):5'- CCAACAGGTTATGTGATGGGG -3'
(F):5'- CTTTCCCAGGAGAGTGTGATG -3'
(R):5'- TGGGGAATGCATTTATACAGGC -3'