Incidental Mutation 'IGL00678:Ppp1cb'
ID 13123
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00678
Quality Score
Status
Chromosome 5
Chromosomal Location 32616192-32651057 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 32642682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015100] [ENSMUST00000201360] [ENSMUST00000201880] [ENSMUST00000202078]
AlphaFold P62141
Predicted Effect probably benign
Transcript: ENSMUST00000015100
SMART Domains Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201207
Predicted Effect probably benign
Transcript: ENSMUST00000201360
SMART Domains Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201880
SMART Domains Protein: ENSMUSP00000144350
Gene: ENSMUSG00000014956

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
Coding Region Coverage
Validation Efficiency
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz2b T C 2: 59,836,527 (GRCm39) E2G unknown Het
Bbs2 T A 8: 94,815,795 (GRCm39) probably null Het
Cdk14 T C 5: 5,299,237 (GRCm39) probably benign Het
Cubn A T 2: 13,472,521 (GRCm39) I477N possibly damaging Het
Dtl A C 1: 191,278,738 (GRCm39) probably null Het
Ercc6l2 T A 13: 63,992,427 (GRCm39) V292E probably damaging Het
Eri3 A G 4: 117,422,088 (GRCm39) H122R probably benign Het
Glrx3 T A 7: 137,054,442 (GRCm39) V75D probably damaging Het
Ifi213 A G 1: 173,421,619 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,304,309 (GRCm39) T66A probably damaging Het
Slco6d1 A G 1: 98,424,069 (GRCm39) S574G probably benign Het
Tas2r136 A T 6: 132,754,161 (GRCm39) L322Q probably damaging Het
Tead1 A G 7: 112,441,087 (GRCm39) probably null Het
Tsfm G A 10: 126,864,311 (GRCm39) Q135* probably null Het
Other mutations in Ppp1cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5371:Ppp1cb UTSW 5 32,643,332 (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
Posted On 2012-12-06