|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, F|
|Is this an essential gene?||Probably essential (E-score: 0.781)|
|Stock #||R7399 (G1)|
|Chromosomal Location||118208213-118291405 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 118226523 bp|
|Amino Acid Change||Valine to Isoleucine at position 788 (V788I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039368 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049074]|
|PDB Structure||Tandem Ig domains of tyrosine phosphatase LAR [X-RAY DIFFRACTION]|
|Predicted Effect||probably benign
AA Change: V788I
PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V788I
AA Change: V210I
AA Change: V362I
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
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 intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups. Other characteristics of null mice include defective nerve regeneration and hyperactivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprf||
(F):5'- TATTGGAGACGGTAGCCCAG -3'
(R):5'- AGGATTTGTCCAGCTTCACCTC -3'
(F):5'- TAGCCCAGCAGCTCTCCAG -3'
(R):5'- GTCCAGCTTCACCTCCCAGG -3'