|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 6|
|Synonyms||Hcph, hcp, SHP-1, Ptp1C|
|Is this an essential gene?||Possibly essential (E-score: 0.566)|
|Stock #||R6374 (G1)|
|Chromosomal Location||124720707-124738714 bp(-) (GRCm38)|
|Type of Mutation||unclassified|
|DNA Base Change (assembly)||A to T at 124732569 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000133747 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000173647]|
|Predicted Effect||probably null
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
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. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn6||
(F):5'- ACTTAAGGTGGATGATGGTGCC -3'
(R):5'- CAAGAACCAGGGTGACTTCTC -3'
(F):5'- TGCGTGTAATACTCGACCAG -3'
(R):5'- TCCCTCTCAGTCAGGTGG -3'