Incidental Mutation 'R0102:Ppp1r15b'
ID 63270
Institutional Source Beutler Lab
Gene Symbol Ppp1r15b
Ensembl Gene ENSMUSG00000046062
Gene Name protein phosphatase 1, regulatory subunit 15B
Synonyms 1810033K10Rik, CReP, C530022L24Rik
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0102 (G1)
Quality Score 207
Status Validated
Chromosome 1
Chromosomal Location 133058904-133067538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133060908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 475 (N475S)
Ref Sequence ENSEMBL: ENSMUSP00000057062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052529]
AlphaFold Q8BFW3
Predicted Effect probably damaging
Transcript: ENSMUST00000052529
AA Change: N475S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057062
Gene: ENSMUSG00000046062
AA Change: N475S

DomainStartEndE-ValueType
Pfam:CReP_N 1 394 1.3e-205 PFAM
Pfam:PP1c_bdg 397 682 1.5e-154 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195676
Meta Mutation Damage Score 0.2236 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.8%
Validation Efficiency 98% (65/66)
MGI Phenotype 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
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Col1a2 T A 6: 4,520,775 (GRCm39) S371T possibly damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gad1 G A 2: 70,417,583 (GRCm39) probably null Het
Golgb1 C A 16: 36,695,830 (GRCm39) probably benign Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lrp1b G A 2: 41,298,997 (GRCm39) probably benign Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Med25 C T 7: 44,534,904 (GRCm39) V80I possibly damaging Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mki67 T C 7: 135,315,532 (GRCm39) R81G probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or11g27 T A 14: 50,771,088 (GRCm39) L73Q probably damaging Het
Or2w6 T C 13: 21,842,905 (GRCm39) D196G probably damaging Het
Or4a77 T C 2: 89,486,999 (GRCm39) N262S probably benign Het
Or4c111 T C 2: 88,844,015 (GRCm39) Y131C probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Or8h10 A T 2: 86,808,549 (GRCm39) I197N possibly damaging Het
Otp T C 13: 95,013,663 (GRCm39) V27A probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Tbc1d9b T C 11: 50,026,676 (GRCm39) V48A probably damaging Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Other mutations in Ppp1r15b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Ppp1r15b APN 1 133,059,761 (GRCm39) missense probably benign 0.15
IGL02803:Ppp1r15b APN 1 133,061,081 (GRCm39) missense probably damaging 1.00
R0102:Ppp1r15b UTSW 1 133,060,908 (GRCm39) missense probably damaging 1.00
R0565:Ppp1r15b UTSW 1 133,064,391 (GRCm39) splice site probably benign
R1513:Ppp1r15b UTSW 1 133,061,088 (GRCm39) missense probably benign 0.06
R1604:Ppp1r15b UTSW 1 133,060,287 (GRCm39) missense probably benign 0.21
R1932:Ppp1r15b UTSW 1 133,059,363 (GRCm39) start gained probably benign
R4084:Ppp1r15b UTSW 1 133,060,805 (GRCm39) missense probably damaging 1.00
R4687:Ppp1r15b UTSW 1 133,059,873 (GRCm39) missense probably benign 0.00
R5654:Ppp1r15b UTSW 1 133,059,382 (GRCm39) start gained probably benign
R6181:Ppp1r15b UTSW 1 133,060,261 (GRCm39) nonsense probably null
R8862:Ppp1r15b UTSW 1 133,064,506 (GRCm39) missense probably damaging 1.00
RF018:Ppp1r15b UTSW 1 133,059,352 (GRCm39) start gained probably benign
X0025:Ppp1r15b UTSW 1 133,060,038 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TGGAAGCCAGCTCTGATTCTGAAAG -3'
(R):5'- AGAAGGCCACTGTAGCCTCAGAAG -3'

Sequencing Primer
(F):5'- CAGCTCTGATTCTGAAAGTGAGG -3'
(R):5'- TCTTCCCTGACGGTTGAAAAG -3'
Posted On 2013-07-30