Incidental Mutation 'R9061:Ppp1cb'
ID 688968
Institutional Source Beutler Lab
Gene Symbol Ppp1cb
Ensembl Gene ENSMUSG00000014956
Gene Name protein phosphatase 1 catalytic subunit beta
Synonyms
MMRRC Submission 068887-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9061 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 32616192-32651057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32635492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 45 (F45L)
Ref Sequence ENSEMBL: ENSMUSP00000015100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015100] [ENSMUST00000201360] [ENSMUST00000202078]
AlphaFold P62141
Predicted Effect possibly damaging
Transcript: ENSMUST00000015100
AA Change: F45L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956
AA Change: F45L

DomainStartEndE-ValueType
PP2Ac 29 299 1.14e-164 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000201360
AA Change: F45L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956
AA Change: F45L

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
Meta Mutation Damage Score 0.2004 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,133 (GRCm39) M1T probably null Het
Abca13 A G 11: 9,227,847 (GRCm39) E630G probably benign Het
Abcf2 T A 5: 24,778,504 (GRCm39) H218L possibly damaging Het
Abo A T 2: 26,733,395 (GRCm39) M268K probably benign Het
Ankrd33 G T 15: 101,014,029 (GRCm39) probably benign Het
Apc G C 18: 34,446,251 (GRCm39) R1049T probably damaging Het
Atg16l2 T C 7: 100,941,338 (GRCm39) K412E probably damaging Het
Cachd1 G A 4: 100,809,202 (GRCm39) probably null Het
Ccdc152 T G 15: 3,330,643 (GRCm39) K11Q probably damaging Het
Ccdc38 T A 10: 93,401,735 (GRCm39) W232R probably damaging Het
Cluh C T 11: 74,551,192 (GRCm39) P347L possibly damaging Het
Cntn3 A G 6: 102,314,288 (GRCm39) L142P probably damaging Het
Ctnnd2 T A 15: 30,806,884 (GRCm39) M601K probably damaging Het
D930048N14Rik G A 11: 51,545,734 (GRCm39) D209N unknown Het
Dcaf6 A T 1: 165,164,332 (GRCm39) N814K probably damaging Het
Dhx8 A T 11: 101,632,406 (GRCm39) D455V possibly damaging Het
Fcna A C 2: 25,514,956 (GRCm39) L301W possibly damaging Het
Garin1b C T 6: 29,323,902 (GRCm39) T209I probably benign Het
Gdf9 T G 11: 53,324,269 (GRCm39) C13G probably damaging Het
Hells T A 19: 38,933,858 (GRCm39) N226K probably damaging Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ifi207 A T 1: 173,564,153 (GRCm39) probably benign Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kirrel2 T C 7: 30,150,305 (GRCm39) I508V probably benign Het
Klhl38 T A 15: 58,186,022 (GRCm39) I236F probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc1 A T 1: 153,126,870 (GRCm39) C425* probably null Het
Letm1 A G 5: 33,918,213 (GRCm39) F311L probably damaging Het
Lypd11 A T 7: 24,422,173 (GRCm39) I192N possibly damaging Het
Mapk8ip2 T C 15: 89,342,016 (GRCm39) V409A possibly damaging Het
Mybpc1 C T 10: 88,391,501 (GRCm39) C318Y probably damaging Het
Myo15a A G 11: 60,393,692 (GRCm39) Y1141C Het
Ndufv2 T A 17: 66,390,475 (GRCm39) D165V probably damaging Het
Nrde2 T C 12: 100,110,123 (GRCm39) K303E probably benign Het
Nup205 T A 6: 35,196,808 (GRCm39) probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2f2 A T 6: 42,767,141 (GRCm39) H56L probably damaging Het
Or5b118 A G 19: 13,448,523 (GRCm39) N21S probably damaging Het
Otof C T 5: 30,546,001 (GRCm39) V451I possibly damaging Het
Pask G A 1: 93,253,191 (GRCm39) Q399* probably null Het
Pbk T A 14: 66,049,439 (GRCm39) F39I probably benign Het
Pdzd2 T C 15: 12,374,753 (GRCm39) K1794R possibly damaging Het
Pibf1 T C 14: 99,424,069 (GRCm39) probably null Het
Ppip5k2 G A 1: 97,645,187 (GRCm39) T1089I probably damaging Het
Pramel21 T G 4: 143,342,741 (GRCm39) S283A possibly damaging Het
Samd4 T C 14: 47,301,728 (GRCm39) F344S probably damaging Het
Slc2a13 C T 15: 91,234,333 (GRCm39) M334I possibly damaging Het
Slc37a1 C T 17: 31,556,365 (GRCm39) A363V probably damaging Het
Slc8a3 T A 12: 81,263,540 (GRCm39) I616F probably damaging Het
Srcin1 A G 11: 97,427,206 (GRCm39) L257P probably damaging Het
Tarbp1 A G 8: 127,173,880 (GRCm39) F945L probably damaging Het
Thbs4 A T 13: 92,911,187 (GRCm39) probably null Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim62 G A 4: 128,802,963 (GRCm39) V338M probably damaging Het
Ttll9 C T 2: 152,818,113 (GRCm39) H20Y possibly damaging Het
Uevld A T 7: 46,587,806 (GRCm39) I298N probably damaging Het
Zan T C 5: 137,462,653 (GRCm39) E842G probably damaging Het
Zdbf2 T G 1: 63,346,296 (GRCm39) S1558R 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
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
Predicted Primers PCR Primer
(F):5'- TACAACCCAGTCCATGTGTG -3'
(R):5'- TAGCAATCTCCTAGAATCTGCCC -3'

Sequencing Primer
(F):5'- AAGCTGATGAGCTTCCTC -3'
(R):5'- AGAATCTGCCCATTTTTCTTAACAC -3'
Posted On 2021-11-19