|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, K|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2076 (G1)|
|Chromosomal Location||28074820-28597397 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 28589368 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Lysine at position 1349 (I1349K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359] [ENSMUST00000220357]|
AA Change: I1335K
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: I1335K
AA Change: I1349K
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: I1323K
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: I270K
PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|Meta Mutation Damage Score||0.3395|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
|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'- GACTCTAATTCCCTTCCCAGAG -3'
(R):5'- CTGGAACACATACTGTCCTGG -3'
(F):5'- CAGTACTGGCCAGAAGAAG -3'
(R):5'- TACTGTCCTGGAACTAAGACATAAGG -3'