|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 13B|
|Essential gene?||Probably essential (E-score: 0.795)|
|Stock #||R6836 (G1)|
|Chromosomal Location||111828457-111908110 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 111835195 bp (GRCm38)|
|Amino Acid Change||Serine to Glycine at position 352 (S352G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152424 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486] [ENSMUST00000222843]|
AA Change: S475G
PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: S475G
AA Change: S352G
PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|Meta Mutation Damage Score||0.0591|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r13b||
(F):5'- ATCTCCAGTTGGAAAGGCAGG -3'
(R):5'- AATGTGTCCTATGTCCTTTAATGGC -3'
(F):5'- TGCTGAATCTGCTGTGAG -3'
(R):5'- GGCTTACAAATTGTACTGTGTACTG -3'