|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, F|
|Essential gene?||Possibly essential (E-score: 0.690)|
|Stock #||R7448 (G1)|
|Chromosomal Location||118208213-118291405 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 118235667 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 517 (D517G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039368 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049074] [ENSMUST00000222620]|
|PDB Structure||Tandem Ig domains of tyrosine phosphatase LAR [X-RAY DIFFRACTION]|
AA Change: D517G
PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: D517G
AA Change: D41G
AA Change: D184G
|Meta Mutation Damage Score||0.1429|
|Coding Region Coverage||
|Validation Efficiency||100% (117/117)|
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'- GTATCACACGGGCCACTAAC -3'
(R):5'- CAGGCTGTGAAGTTTGGAGC -3'
(F):5'- AAACCTAGGGTCTGCAGCC -3'
(R):5'- AAGTTTGGAGCTTGGGAGG -3'