Incidental Mutation 'IGL02210:Ppp1cb'
ID 284692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1cb
Ensembl Gene ENSMUSG00000014956
Gene Name protein phosphatase 1, catalytic subunit, beta isoform
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02210
Quality Score
Status
Chromosome 5
Chromosomal Location 32458843-32517433 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 32483474 bp (GRCm38)
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: ENSMUST00000118396
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Ppp1cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Ppp1cb APN 5 32485338 splice site probably benign
IGL00908:Ppp1cb APN 5 32478068 nonsense probably null
IGL01881:Ppp1cb APN 5 32478143 missense probably benign 0.15
R0081:Ppp1cb UTSW 5 32487614 missense probably damaging 1.00
R0124:Ppp1cb UTSW 5 32483478 splice site probably benign
R1137:Ppp1cb UTSW 5 32487671 missense probably damaging 1.00
R2198:Ppp1cb UTSW 5 32483360 missense probably damaging 1.00
R5371:Ppp1cb UTSW 5 32485988 missense probably damaging 1.00
R5931:Ppp1cb UTSW 5 32483466 critical splice donor site probably null
R6299:Ppp1cb UTSW 5 32483454 nonsense probably null
R6781:Ppp1cb UTSW 5 32480762 missense probably damaging 1.00
R7238:Ppp1cb UTSW 5 32491032 missense probably benign
R9061:Ppp1cb UTSW 5 32478148 missense possibly damaging 0.55
Posted On 2015-04-16