|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, E|
|Synonyms||PTPe, RPTPepsilon, PTPepsilon|
|Essential gene?||Possibly essential (E-score: 0.523)|
|Stock #||R7855 (G1)|
|Chromosomal Location||135537481-135686293 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 135651995 bp (GRCm38)|
|Amino Acid Change||Asparagine to Aspartic acid at position 6 (N6D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000147613 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073961] [ENSMUST00000209256] [ENSMUST00000209979] [ENSMUST00000210833] [ENSMUST00000211140] [ENSMUST00000211788]|
AA Change: N6D
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset peripheral myelination defects, increased activity of voltage-gated potassium channels in Schwann cells, and increased trabecular bone mass due to cell-specific defects in osteoclast function in young females. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpre||
(F):5'- TCCCCTGGAAAGAACTGAAGG -3'
(R):5'- GCCCAGTGTACAATACCTTGC -3'
(F):5'- TAGCATGGGGGAAGTCCTTAC -3'
(R):5'- GCTCTTCTAAGATCCCGTTAGG -3'