|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 14|
|Synonyms||C130080N23Rik, PTP36, OTTMUSG00000022087|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7599 (G1)|
|Chromosomal Location||189728268-189876695 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 189850745 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 596 (D596E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095051 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]|
AA Change: D596E
PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: D596E
|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 contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn14||
(F):5'- CCAAAATTGTGCGATGCCTATC -3'
(R):5'- ATGCTGTTCATCACCTCCAGG -3'
(F):5'- AATTGTGCGATGCCTATCAAGCC -3'
(R):5'- CCAGGCTGTGGCGTTTATTCAC -3'