|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 23|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7797 (G1)|
|Chromosomal Location||110385082-110408213 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 110393807 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 61 (D61N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039580 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040021]|
|PDB Structure||MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: D61N
PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D61N
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
PHENOTYPE: Embryos homozygous for a gene trap allele are significantly growth retarded and fail to reach the E8.5 stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptpn23||
(F):5'- AGCTGTCCAAGTTCACACC -3'
(R):5'- AGTTTCAGATGAAGAACTTCGGATC -3'
(F):5'- AGCTGTCCAAGTTCACACCTTCTAAG -3'
(R):5'- TCAAGCTGGAGCAATGTCTC -3'