|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, Q|
|Essential gene?||Possibly non essential (E-score: 0.273)|
|Stock #||R8830 (G1)|
|Chromosomal Location||107517049-107720051 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 107586695 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 1612 (V1612A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058572 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050702]|
AA Change: V1612A
PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: V1612A
|Meta Mutation Damage Score||0.0797|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprq||
(F):5'- TCAGAGCACACATCCTTTCTTG -3'
(R):5'- ATTTCTCAGAGCAATCTGACTCCAAAG -3'
(F):5'- GCACACATCCTTTCTTGAGAAGAGTG -3'
(R):5'- GTCAATGACTAAATATTGGCCAGAG -3'