|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, N|
|Is this an essential gene?||Possibly essential (E-score: 0.518)|
|Stock #||R8233 (G1)|
|Chromosomal Location||75247027-75264502 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 75253152 bp|
|Amino Acid Change||Methionine to Lysine at position 701 (M701K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027404 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027404]|
|Predicted Effect||probably damaging
AA Change: M701K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: M701K
|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 a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprn||
(F):5'- CTCACAAATGACCTTCTGGCCC -3'
(R):5'- ACAGCAGCACACCATCTTGG -3'
(F):5'- AGCCTCGAACTGCTCCTAG -3'
(R):5'- CCATCTTGGTGCGAGGAG -3'