|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 9|
|Is this an essential gene?||Possibly essential (E-score: 0.506)|
|Stock #||R1617 (G1)|
|Chromosomal Location||56994923-57062807 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 57027408 bp|
|Amino Acid Change||Isoleucine to Serine at position 152 (I152S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034832 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034832] [ENSMUST00000216034]|
|Predicted Effect||possibly damaging
AA Change: I152S
PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: I152S
|Predicted Effect||probably benign
AA Change: I75S
PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|Meta Mutation Damage Score||0.214|
|Coding Region Coverage||
|Validation Efficiency||98% (83/85)|
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 domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display hemorrhages, craniofacial anomalies, neural tube defects such as exencephaly and meningomyeloceles, cerebral infarctions, abnormal bone development, and >90% late embryonic lethality in addition to severe defectsin T lymphocyte and platelet activation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn9||
(F):5'- GGATGCATAAAACCCTCTGGAAAACAAC -3'
(R):5'- GGACCTCACCCCTTACATAGCTCA -3'
(F):5'- atggtggaaggaaaggacag -3'
(R):5'- cacttccttgaactcagaaatcc -3'