Incidental Mutation 'IGL02939:Ppp2r3c'
ID 365962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r3c
Ensembl Gene ENSMUSG00000021022
Gene Name protein phosphatase 2, regulatory subunit B'', gamma
Synonyms G5pr, G4-1, 4930511A21Rik, 5730412A08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL02939
Quality Score
Status
Chromosome 12
Chromosomal Location 55327594-55350024 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 55345192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021410] [ENSMUST00000021411] [ENSMUST00000183475] [ENSMUST00000183654] [ENSMUST00000184766] [ENSMUST00000184980]
AlphaFold Q9JK24
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000021411
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
Pfam:PRORP 339 575 4.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183475
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
low complexity region 410 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183654
SMART Domains Protein: ENSMUSP00000138821
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 33 185 8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184249
Predicted Effect probably benign
Transcript: ENSMUST00000184766
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
PDB:4G26|A 153 581 1e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000184980
SMART Domains Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
low complexity region 113 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218116
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 73,340,924 (GRCm39) D47G probably benign Het
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Fgf14 C T 14: 124,369,891 (GRCm39) G136D possibly damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Gosr1 A G 11: 76,641,732 (GRCm39) probably benign Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Or6c1 A T 10: 129,517,857 (GRCm39) Y250* probably null Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Plekha4 C T 7: 45,181,787 (GRCm39) Q64* probably null Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Tmtc2 A G 10: 105,206,411 (GRCm39) S295P probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly damaging Het
Other mutations in Ppp2r3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Ppp2r3c APN 12 55,339,283 (GRCm39) splice site probably null
IGL01122:Ppp2r3c APN 12 55,344,587 (GRCm39) missense probably benign 0.20
IGL01954:Ppp2r3c APN 12 55,339,353 (GRCm39) missense probably damaging 1.00
R0045:Ppp2r3c UTSW 12 55,340,606 (GRCm39) missense probably damaging 0.99
R0129:Ppp2r3c UTSW 12 55,345,207 (GRCm39) missense probably damaging 0.96
R2411:Ppp2r3c UTSW 12 55,345,269 (GRCm39) missense probably benign 0.19
R4468:Ppp2r3c UTSW 12 55,344,668 (GRCm39) nonsense probably null
R4746:Ppp2r3c UTSW 12 55,349,420 (GRCm39) splice site probably null
R5499:Ppp2r3c UTSW 12 55,335,411 (GRCm39) missense probably benign 0.09
R5724:Ppp2r3c UTSW 12 55,344,617 (GRCm39) missense probably benign 0.45
R6724:Ppp2r3c UTSW 12 55,335,281 (GRCm39) missense probably benign 0.02
R6776:Ppp2r3c UTSW 12 55,345,252 (GRCm39) nonsense probably null
R7706:Ppp2r3c UTSW 12 55,328,490 (GRCm39) missense probably benign 0.23
R8111:Ppp2r3c UTSW 12 55,344,634 (GRCm39) missense probably benign
R8698:Ppp2r3c UTSW 12 55,328,499 (GRCm39) missense probably benign 0.10
R8892:Ppp2r3c UTSW 12 55,336,453 (GRCm39) missense possibly damaging 0.80
R9349:Ppp2r3c UTSW 12 55,345,268 (GRCm39) missense probably benign 0.36
RF006:Ppp2r3c UTSW 12 55,340,600 (GRCm39) missense probably benign 0.24
Posted On 2015-12-18