Incidental Mutation 'IGL01881:Ppp1cb'
ID 179030
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 # IGL01881
Quality Score
Status
Chromosome 5
Chromosomal Location 32616192-32651057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32635487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 44 (I44V)
Ref Sequence ENSEMBL: ENSMUSP00000144047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015100] [ENSMUST00000201360] [ENSMUST00000202078]
AlphaFold P62141
Predicted Effect probably benign
Transcript: ENSMUST00000015100
AA Change: I44V

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956
AA Change: I44V

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201207
Predicted Effect probably benign
Transcript: ENSMUST00000201360
AA Change: I44V

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956
AA Change: I44V

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asl A T 5: 130,047,379 (GRCm39) probably benign Het
Cd3g A T 9: 44,882,566 (GRCm39) Y160N probably damaging Het
Exoc8 T A 8: 125,623,090 (GRCm39) R426W probably damaging Het
Fam216a A G 5: 122,505,698 (GRCm39) Y114H probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3402 A T 5: 146,451,408 (GRCm39) I89F possibly damaging Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Mterf4 A G 1: 93,232,363 (GRCm39) S163P probably damaging Het
Myo7b G A 18: 32,133,320 (GRCm39) probably benign Het
Pde6b A T 5: 108,569,366 (GRCm39) M358L probably benign Het
Slitrk3 T C 3: 72,956,639 (GRCm39) E711G probably benign Het
Trappc9 A T 15: 72,871,841 (GRCm39) L492Q probably damaging Het
Tulp2 C T 7: 45,170,219 (GRCm39) R297W probably damaging 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
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 2014-05-07