|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 13|
|Synonyms||PTPL1, Ptpri, PTP-BL|
|Is this an essential gene?||Possibly non essential (E-score: 0.300)|
|Stock #||R7253 (G1)|
|Chromosomal Location||103425192-103598303 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 103565284 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 1758 (E1758K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048119 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048957]|
|Predicted Effect||possibly damaging
AA Change: E1758K
PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: E1758K
|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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn13||
(F):5'- CTGCTGTGTTCTAAATATTGGCCC -3'
(R):5'- GTCCCCTAATTTCTCACCAGGG -3'
(F):5'- TGGCCCTGAAATGTATCCACAAGTAG -3'
(R):5'- TTTCTCACCAGGGAAACATCAGAGAG -3'