|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, R|
|Synonyms||PTPBR7, PTP-SL, RPTPRR|
|Is this an essential gene?||Possibly non essential (E-score: 0.313)|
|Stock #||R5717 (G1)|
|Chromosomal Location||116018213-116274932 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 116048113 bp|
|Amino Acid Change||Asparagine to Serine at position 25 (N25S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064392 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063470]|
|Predicted Effect||probably benign
AA Change: N25S
PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: N25S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0602|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
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 a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprr||
(F):5'- AAATAAGGATGCTATCAGACAATCAA -3'
(R):5'- ATGCAGGTCTAGGAAATGCTGA -3'
(F):5'- CTATTGCATGTGCCAGCAAG -3'
(R):5'- GGAAATGCTGAATTAATAATCTGGTG -3'