Incidental Mutation 'IGL00928:Ppp2r3c'
ID28736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r3c
Ensembl Gene ENSMUSG00000021022
Gene Nameprotein phosphatase 2, regulatory subunit B'', gamma
Synonyms4930511A21Rik, G5pr, G4-1, 5730412A08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL00928
Quality Score
Status
Chromosome12
Chromosomal Location55278991-55302998 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to G at 55292498 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021410]
Predicted Effect probably null
Transcript: ENSMUST00000021410
SMART Domains Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022

DomainStartEndE-ValueType
PDB:4I5K|B 188 437 1e-25 PDB
SCOP:d1dgua_ 258 413 4e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219809
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,398,970 probably benign Het
Ablim3 T C 18: 61,849,406 E156G possibly damaging Het
Adgrb2 A G 4: 129,992,303 T79A probably benign Het
Arel1 A T 12: 84,934,162 V357E probably damaging Het
Asph T C 4: 9,594,675 I241V probably benign Het
B3galt2 A G 1: 143,647,155 Y343C probably damaging Het
Brf1 A G 12: 112,963,600 probably benign Het
Col3a1 A G 1: 45,340,858 probably benign Het
Cps1 A C 1: 67,123,234 T24P probably benign Het
Cyp3a25 A G 5: 145,986,954 L293P possibly damaging Het
Engase C A 11: 118,482,970 R313S possibly damaging Het
Espn A G 4: 152,135,602 S28P probably damaging Het
Gm732 T A X: 107,945,843 E488V possibly damaging Het
Gnas T A 2: 174,297,953 L31* probably null Het
Gorasp2 A G 2: 70,690,864 T393A probably benign Het
Gpc6 T A 14: 116,925,958 V8E possibly damaging Het
Gtf2a1l T C 17: 88,694,462 S202P probably benign Het
Gucy1a2 T C 9: 3,759,777 F528L probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Igsf10 T C 3: 59,330,597 H721R probably benign Het
Kcnu1 T C 8: 25,849,735 F27S probably damaging Het
Mprip T A 11: 59,744,752 W366R probably damaging Het
Myom1 T C 17: 71,089,913 V954A probably damaging Het
Nudt13 T C 14: 20,316,163 I303T possibly damaging Het
Olfr91 A C 17: 37,093,332 S181A probably benign Het
Olfr982 T A 9: 40,074,776 H160Q probably damaging Het
Orc4 A G 2: 48,910,269 V289A probably benign Het
Pamr1 C A 2: 102,639,341 Q411K probably benign Het
Pdcl A G 2: 37,357,374 M1T probably null Het
Phf20 T C 2: 156,304,816 probably null Het
Pla2r1 T C 2: 60,535,080 S49G probably damaging Het
Rdh14 G A 12: 10,394,803 S218N probably damaging Het
Rfx4 A G 10: 84,840,114 R16G probably benign Het
Scarb2 A C 5: 92,446,344 F453C probably damaging Het
Sh2d7 A G 9: 54,541,231 T179A probably benign Het
Spag6l C T 16: 16,767,013 A424T possibly damaging Het
Trim71 T C 9: 114,525,015 D307G probably benign Het
Ufl1 A T 4: 25,267,790 L294M probably damaging Het
Wdr93 C A 7: 79,775,553 P540Q probably damaging Het
Other mutations in Ppp2r3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Ppp2r3c APN 12 55297802 missense probably benign 0.20
IGL01954:Ppp2r3c APN 12 55292568 missense probably damaging 1.00
IGL02939:Ppp2r3c APN 12 55298407 unclassified probably benign
R0045:Ppp2r3c UTSW 12 55293821 missense probably damaging 0.99
R0129:Ppp2r3c UTSW 12 55298422 missense probably damaging 0.96
R2411:Ppp2r3c UTSW 12 55298484 missense probably benign 0.19
R4468:Ppp2r3c UTSW 12 55297883 nonsense probably null
R4746:Ppp2r3c UTSW 12 55302635 unclassified probably null
R5499:Ppp2r3c UTSW 12 55288626 missense probably benign 0.09
R5724:Ppp2r3c UTSW 12 55297832 missense probably benign 0.45
R6724:Ppp2r3c UTSW 12 55288496 missense probably benign 0.02
R6776:Ppp2r3c UTSW 12 55298467 nonsense probably null
R7706:Ppp2r3c UTSW 12 55281705 missense probably benign 0.23
R7975:Ppp2r3c UTSW 12 55287993 nonsense probably null
R8111:Ppp2r3c UTSW 12 55297849 missense probably benign
RF006:Ppp2r3c UTSW 12 55293815 missense probably benign 0.24
Posted On2013-04-17