Incidental Mutation 'IGL00908:Ppp1cb'
ID 27390
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 # IGL00908
Quality Score
Status
Chromosome 5
Chromosomal Location 32616192-32651057 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 32635412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 19 (R19*)
Ref Sequence ENSEMBL: ENSMUSP00000144047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015100] [ENSMUST00000201360] [ENSMUST00000202078]
AlphaFold P62141
Predicted Effect probably null
Transcript: ENSMUST00000015100
AA Change: R19*
SMART Domains Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956
AA Change: R19*

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201207
Predicted Effect probably null
Transcript: ENSMUST00000201360
AA Change: R19*
SMART Domains Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956
AA Change: R19*

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 G T 15: 83,206,790 (GRCm39) P266Q probably benign Het
Atp6v1b2 T A 8: 69,548,918 (GRCm39) D61E probably benign Het
Cad T C 5: 31,216,398 (GRCm39) I190T possibly damaging Het
Chd9 C T 8: 91,723,508 (GRCm39) T558I probably damaging Het
Dmkn G A 7: 30,477,695 (GRCm39) probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ifi213 A T 1: 173,422,649 (GRCm39) V72E probably damaging Het
Ift122 A G 6: 115,890,870 (GRCm39) D803G probably benign Het
Il2rg A T X: 100,308,454 (GRCm39) probably benign Het
Ing2 T C 8: 48,122,296 (GRCm39) Q84R possibly damaging Het
Kdm6a T C X: 18,102,905 (GRCm39) F211L possibly damaging Het
Lmnb2 T C 10: 80,745,821 (GRCm39) D105G probably damaging Het
Magee2 A G X: 103,900,447 (GRCm39) I68T probably benign Het
Magi2 T A 5: 20,596,299 (GRCm39) D415E probably benign Het
Mospd2 C T X: 163,745,121 (GRCm39) R135Q probably damaging Het
Mysm1 T C 4: 94,847,172 (GRCm39) D508G probably damaging Het
Naip2 T C 13: 100,297,157 (GRCm39) I960V probably benign Het
Ncald C A 15: 37,372,451 (GRCm39) M131I possibly damaging Het
Nup188 T C 2: 30,223,412 (GRCm39) S1096P probably damaging Het
Plekha5 G A 6: 140,496,656 (GRCm39) E69K probably damaging Het
Rasl11b G A 5: 74,356,772 (GRCm39) V50I probably damaging Het
Robo2 C T 16: 73,782,579 (GRCm39) R319K probably damaging Het
Trip4 T C 9: 65,782,216 (GRCm39) D172G probably damaging Het
Zc3h7a G A 16: 10,963,106 (GRCm39) R752C probably damaging Het
Other mutations in Ppp1cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Ppp1cb APN 5 32,642,682 (GRCm39) splice site probably benign
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 2013-04-17