|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, F|
|Is this an essential gene?||Possibly essential (E-score: 0.719)|
|Stock #||R2912 (G1)|
|Chromosomal Location||118208213-118291405 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 118248980 bp|
|Amino Acid Change||Serine to Proline at position 206 (S206P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152568 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049074] [ENSMUST00000222620]|
|Predicted Effect||probably benign
AA Change: S200P
PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: S200P
|Predicted Effect||probably damaging
AA Change: S206P
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|Coding Region Coverage||
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'- TTGCACCAAGGTCTCCTCTAG -3'
(R):5'- AACAGTGGTGGACGCTCTATG -3'
(F):5'- AAGGTCTCCTCTAGGCAGCAATG -3'
(R):5'- TGGCTCATCAGAAAGAACTTCCTG -3'