|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 13B|
|Is this an essential gene?||Probably essential (E-score: 0.865)|
|Stock #||R5250 (G1)|
|Chromosomal Location||111828457-111908110 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 111844960 bp|
|Amino Acid Change||Arginine to Serine at position 165 (R165S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486]|
|Predicted Effect||probably benign
AA Change: R165S
PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: R165S
AA Change: R7S
|Meta Mutation Damage Score||0.1018|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
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'- TAGAAACGTGCAGTGCCATTTG -3'
(R):5'- TGGTCTGACGTGTGCAGAATTC -3'
(F):5'- CAGTGCCATTTGGGATTGTGACC -3'
(R):5'- ACGTGTGCAGAATTCCTTCAG -3'