|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, K|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7831 (G1)|
|Chromosomal Location||28074820-28597397 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 28568408 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Valine at position 946 (I946V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359]|
AA Change: I932V
PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: I932V
AA Change: I946V
PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: I920V
PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|Coding Region Coverage||
|Validation Efficiency||100% (87/87)|
|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'- AATGTGCTCATGGCCGTAG -3'
(R):5'- GGCATTACCCCAATATTCTTCAAC -3'
(F):5'- TCATGGCCGTAGACAGTCGTG -3'
(R):5'- CAGCAAGTTTTTCAAAGGCAAG -3'