Incidental Mutation 'R5371:Ppp1cb'
ID 428713
Institutional Source Beutler Lab
Gene Symbol Ppp1cb
Ensembl Gene ENSMUSG00000014956
Gene Name protein phosphatase 1 catalytic subunit beta
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5371 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 32616192-32651057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32643332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 234 (F234L)
Ref Sequence ENSEMBL: ENSMUSP00000144047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015100] [ENSMUST00000201360] [ENSMUST00000201880] [ENSMUST00000202078]
AlphaFold P62141
Predicted Effect probably damaging
Transcript: ENSMUST00000015100
AA Change: F234L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956
AA Change: F234L

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131300
AA Change: F234L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121550
Gene: ENSMUSG00000014956
AA Change: F234L

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201207
Predicted Effect probably damaging
Transcript: ENSMUST00000201360
AA Change: F234L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956
AA Change: F234L

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201880
AA Change: F7L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144350
Gene: ENSMUSG00000014956
AA Change: F7L

DomainStartEndE-ValueType
PP2Ac 1 72 1.1e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202078
SMART Domains Protein: ENSMUSP00000144167
Gene: ENSMUSG00000014956

DomainStartEndE-ValueType
Blast:PP2Ac 1 56 7e-25 BLAST
SCOP:d1auia_ 18 53 4e-11 SMART
PDB:1S70|A 18 56 5e-21 PDB
Meta Mutation Damage Score 0.8448 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 96% (71/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,261,918 (GRCm39) noncoding transcript Het
Arpp21 G A 9: 111,895,000 (GRCm39) P755S probably benign Het
Aspm C T 1: 139,398,279 (GRCm39) Q982* probably null Het
Atp5f1e C T 2: 174,304,319 (GRCm39) probably benign Het
BC024139 A G 15: 76,004,886 (GRCm39) *598Q probably null Het
Bcl6 T A 16: 23,788,736 (GRCm39) D544V possibly damaging Het
Ccdc9 A T 7: 16,014,655 (GRCm39) D195E probably damaging Het
Cd38 A G 5: 44,026,225 (GRCm39) N3S probably benign Het
Cfap46 A T 7: 139,212,097 (GRCm39) probably null Het
Cmtr2 T C 8: 110,948,044 (GRCm39) F118S probably damaging Het
Cyp7a1 A G 4: 6,268,378 (GRCm39) F449S probably damaging Het
Dnah10 C T 5: 124,820,693 (GRCm39) A509V probably benign Het
Dsp A T 13: 38,378,865 (GRCm39) Q1271L probably damaging Het
Edar A C 10: 58,443,274 (GRCm39) V284G possibly damaging Het
Fdft1 A G 14: 63,388,750 (GRCm39) V294A probably damaging Het
Gba1 T A 3: 89,112,778 (GRCm39) V140E probably benign Het
Gm12185 A T 11: 48,806,566 (GRCm39) S208R probably benign Het
Gm21028 C A 7: 42,227,946 (GRCm39) E23* probably null Het
Gm6871 A G 7: 41,222,992 (GRCm39) L32P probably benign Het
Hhip C T 8: 80,724,220 (GRCm39) V341M probably damaging Het
Kcnq2 C A 2: 180,776,813 (GRCm39) V25L probably damaging Het
Krit1 C A 5: 3,881,551 (GRCm39) H548N probably damaging Het
Kynu C T 2: 43,479,406 (GRCm39) A100V probably benign Het
Lpp T C 16: 24,708,554 (GRCm39) C295R probably damaging Het
Mdp1 A G 14: 55,897,806 (GRCm39) V9A probably damaging Het
Mllt3 T C 4: 87,759,093 (GRCm39) I318M possibly damaging Het
Mpzl3 A G 9: 44,966,510 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mup8 A G 4: 60,222,423 (GRCm39) V16A probably benign Het
Myh13 T A 11: 67,235,616 (GRCm39) probably null Het
Myh4 A T 11: 67,150,150 (GRCm39) Q1869L probably damaging Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or13c7b A T 4: 43,821,058 (GRCm39) M101K probably damaging Het
Or51h7 T A 7: 102,591,719 (GRCm39) M22L probably benign Het
Or5d43 C A 2: 88,104,976 (GRCm39) C139F probably damaging Het
Parp11 T C 6: 127,447,755 (GRCm39) F30L probably damaging Het
Pcdhgc3 A T 18: 37,941,507 (GRCm39) D636V possibly damaging Het
Rras2 A T 7: 113,649,572 (GRCm39) V164E probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Scg3 T C 9: 75,568,583 (GRCm39) T390A probably damaging Het
Shh C A 5: 28,671,688 (GRCm39) C25F probably damaging Het
Slc24a1 T C 9: 64,856,550 (GRCm39) K119R unknown Het
Speg G T 1: 75,408,037 (GRCm39) R3244L possibly damaging Het
Spns1 A G 7: 125,972,936 (GRCm39) probably benign Het
Sptbn4 A C 7: 27,059,166 (GRCm39) probably null Het
Stap1 T A 5: 86,244,375 (GRCm39) F214Y possibly damaging Het
Tcerg1 T A 18: 42,652,600 (GRCm39) M76K unknown Het
Tjp1 A T 7: 64,963,059 (GRCm39) Y959* probably null Het
Tmprss11e A T 5: 86,875,225 (GRCm39) C14S probably benign Het
Tnfrsf14 T C 4: 155,006,934 (GRCm39) probably null Het
Tsfm A C 10: 126,847,512 (GRCm39) V193G probably benign Het
Ube2q2l T A 6: 136,378,371 (GRCm39) Y153F probably benign Het
Ush2a A T 1: 188,175,267 (GRCm39) I1122L probably benign Het
Vmn1r74 T A 7: 11,580,984 (GRCm39) S95T probably damaging Het
Vmn2r98 G A 17: 19,290,015 (GRCm39) C517Y probably damaging Het
Vstm2b G A 7: 40,550,702 (GRCm39) S99N possibly damaging Het
Zbtb24 A G 10: 41,327,537 (GRCm39) N141S probably benign Het
Zcchc4 T G 5: 52,942,512 (GRCm39) C106G probably benign Het
Other mutations in Ppp1cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Ppp1cb APN 5 32,642,682 (GRCm39) splice site probably benign
IGL00908:Ppp1cb APN 5 32,635,412 (GRCm39) nonsense probably null
IGL01881:Ppp1cb APN 5 32,635,487 (GRCm39) missense probably benign 0.15
IGL02210:Ppp1cb APN 5 32,640,818 (GRCm39) splice site probably benign
R0081:Ppp1cb UTSW 5 32,644,958 (GRCm39) missense probably damaging 1.00
R0124:Ppp1cb UTSW 5 32,640,822 (GRCm39) splice site probably benign
R1137:Ppp1cb UTSW 5 32,645,015 (GRCm39) missense probably damaging 1.00
R2198:Ppp1cb UTSW 5 32,640,704 (GRCm39) missense probably damaging 1.00
R5931:Ppp1cb UTSW 5 32,640,810 (GRCm39) critical splice donor site probably null
R6299:Ppp1cb UTSW 5 32,640,798 (GRCm39) nonsense probably null
R6781:Ppp1cb UTSW 5 32,638,106 (GRCm39) missense probably damaging 1.00
R7238:Ppp1cb UTSW 5 32,648,376 (GRCm39) missense probably benign
R9061:Ppp1cb UTSW 5 32,635,492 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- GGCAGGAGAGATGTGCTGTA -3'
(R):5'- AGAGTCTTGCCTCCTCATCTATG -3'

Sequencing Primer
(F):5'- AGAGATGTGCTGTAAATGTGTGC -3'
(R):5'- TGAGAATCAAACCTGGGTCCTCTAG -3'
Posted On 2016-09-06