Incidental Mutation 'IGL01954:Ppp2r3c'
ID 181373
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: 0.962) question?
Stock # IGL01954
Quality Score
Status
Chromosome 12
Chromosomal Location 55327594-55350024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55339353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 170 (L170P)
Ref Sequence ENSEMBL: ENSMUSP00000021410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021410]
AlphaFold Q9JK24
Predicted Effect probably damaging
Transcript: ENSMUST00000021410
AA Change: L170P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022
AA Change: L170P

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,396,741 (GRCm39) D330E probably damaging Het
Acsm3 T C 7: 119,374,306 (GRCm39) probably benign Het
Ankrd26 T A 6: 118,535,966 (GRCm39) Y156F possibly damaging Het
Bcr G A 10: 75,011,173 (GRCm39) probably null Het
Cpn2 C T 16: 30,079,138 (GRCm39) A188T probably benign Het
Ctdsp1 T C 1: 74,433,242 (GRCm39) probably benign Het
Cts7 T A 13: 61,500,637 (GRCm39) R303S probably benign Het
Dock7 T C 4: 98,971,388 (GRCm39) D59G probably damaging Het
Garre1 A T 7: 33,944,460 (GRCm39) W91R probably damaging Het
Gpr149 T C 3: 62,438,348 (GRCm39) N603S probably benign Het
Gucy2g A G 19: 55,187,123 (GRCm39) I1099T probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Ighv1-80 A T 12: 115,876,253 (GRCm39) V21D probably benign Het
Klhl18 T C 9: 110,257,934 (GRCm39) Y432C probably damaging Het
Lama4 A G 10: 38,963,295 (GRCm39) D1289G probably benign Het
Mab21l4 T A 1: 93,079,794 (GRCm39) D432V probably damaging Het
Mcm7 T C 5: 138,165,507 (GRCm39) T466A probably damaging Het
Megf8 A G 7: 25,048,439 (GRCm39) E1704G possibly damaging Het
Mettl25 C T 10: 105,659,068 (GRCm39) C405Y probably damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Ndc1 T A 4: 107,253,001 (GRCm39) I590N probably damaging Het
Npnt G T 3: 132,615,724 (GRCm39) N137K probably damaging Het
Numa1 C T 7: 101,645,300 (GRCm39) R309* probably null Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or11i1 A G 3: 106,729,311 (GRCm39) I188T possibly damaging Het
Or5v1 C A 17: 37,809,540 (GRCm39) probably benign Het
Pcdhb9 G T 18: 37,534,794 (GRCm39) V263F probably damaging Het
Pld4 T C 12: 112,734,355 (GRCm39) probably null Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Rasal2 A G 1: 157,005,269 (GRCm39) S227P possibly damaging Het
Rasal2 A T 1: 157,003,686 (GRCm39) D324E probably damaging Het
Rcbtb1 A G 14: 59,467,416 (GRCm39) Y418C probably damaging Het
Rhag T C 17: 41,139,341 (GRCm39) F92S possibly damaging Het
Scel T C 14: 103,840,678 (GRCm39) probably benign Het
Serinc5 A G 13: 92,819,441 (GRCm39) N125S probably damaging Het
Sgpl1 A T 10: 60,936,672 (GRCm39) M561K probably benign Het
Sostdc1 T C 12: 36,367,121 (GRCm39) V99A probably damaging Het
Them6 A G 15: 74,593,538 (GRCm39) Y132C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 A T 6: 124,169,207 (GRCm39) F641Y probably damaging Het
Vps13c A G 9: 67,876,580 (GRCm39) Y3384C probably damaging Het
Zbtb32 G T 7: 30,289,353 (GRCm39) probably null 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
IGL02939:Ppp2r3c APN 12 55,345,192 (GRCm39) unclassified probably benign
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 2014-05-07