|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, N polypeptide 2|
|Synonyms||phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta|
|Is this an essential gene?||Possibly non essential (E-score: 0.294)|
|Stock #||R8716 (G1)|
|Chromosomal Location||116485720-117276849 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 117255548 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 933 (D933G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]|
|Predicted Effect||possibly damaging
AA Change: D933G
PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D933G
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprn2||
(F):5'- GGGCCACATCTCAGAGTAAAGG -3'
(R):5'- TCAACACCACTTGACTCAGG -3'
(F):5'- AGCATTCTGAGAGAACCGTTCCTG -3'
(R):5'- CCACTTGACTCAGGAAAGGGAC -3'