|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 15b|
|Synonyms||1810033K10Rik, CReP, C530022L24Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4687 (G1)|
|Chromosomal Location||133131143-133139783 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 133132135 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 130 (V130A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057062 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052529]|
AA Change: V130A
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V130A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a null allele die within the first day after birth with decreased weight at birth and red blood cell counts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r15b||
(F):5'- GTACTGGACCAAATTGCTTTCTCAG -3'
(R):5'- GACTAGACCAGCTTGAAGGC -3'
(F):5'- AGCCTATTCCAGAAGCTGCTG -3'
(R):5'- CTAGACCAGCTTGAAGGCTACTG -3'