|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, non-receptor type 23|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6296 (G1)|
|Chromosomal Location||110385082-110408213 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 110393826 bp|
|Amino Acid Change||Asparagine to Lysine at position 54 (N54K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039580 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040021]|
|Predicted Effect||probably damaging
AA Change: N54K
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: N54K
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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'- TGTCCAAGTTCACACCTTCTAAG -3'
(R):5'- GTTTCAGATGAAGAACTTCGGATC -3'
(F):5'- AAGTTCTCATCTGCCCAGC -3'
(R):5'- TCAAGCTGGAGCAATGTCTC -3'