Incidental Mutation 'IGL01935:Ppp1r15b'
ID 180625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r15b
Ensembl Gene ENSMUSG00000046062
Gene Name protein phosphatase 1, regulatory subunit 15B
Synonyms 1810033K10Rik, CReP, C530022L24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01935
Quality Score
Status
Chromosome 1
Chromosomal Location 133058904-133067538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133059761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000057062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052529]
AlphaFold Q8BFW3
Predicted Effect probably benign
Transcript: ENSMUST00000052529
AA Change: F93L

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057062
Gene: ENSMUSG00000046062
AA Change: F93L

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
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Napsa G T 7: 44,236,046 (GRCm39) A362S probably benign Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef4 C A 2: 72,064,467 (GRCm39) T623K probably benign Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
Ssrp1 T C 2: 84,877,056 (GRCm39) *709Q probably null Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmed7 T C 18: 46,730,190 (GRCm39) T54A probably benign Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Unc13d T C 11: 115,960,577 (GRCm39) M496V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably damaging Het
Other mutations in Ppp1r15b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07