|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, K|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8274 (G1)|
|Chromosomal Location||28074820-28597397 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 28580412 bp|
|Amino Acid Change||Arginine to Leucine at position 1056 (R1056L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126279 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166468]|
|Predicted Effect||probably damaging
AA Change: R1056L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R1056L
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
|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'- TAAGTTTGCAGGCCCTGTTAG -3'
(R):5'- GTAGTATAGGCAAGTACAAACCTCG -3'
(F):5'- GCAGGCCCTGTTAGACTAGTATC -3'
(R):5'- CCTCGTGAGCAACATTTAGC -3'