|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 3|
|Synonyms||9530011I20Rik, PTPCL, PTP-H1|
|Is this an essential gene?||Possibly essential (E-score: 0.558)|
|Stock #||R7237 (G1)|
|Chromosomal Location||57190841-57301837 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 57239625 bp|
|Amino Acid Change||Valine to Isoleucine at position 302 (V302I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075063 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075637]|
|Predicted Effect||probably damaging
AA Change: V302I
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V302I
|Coding Region Coverage||
|Validation Efficiency||98% (83/85)|
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn3||
(F):5'- CAGGGATCTCAAATCTGGAGTCC -3'
(R):5'- TGATTCCTAGGACACTGGGGTG -3'
(F):5'- TGGAGTCCAGCCCCAGAG -3'
(R):5'- ACACTGGGGTGCATCTGAG -3'