Incidental Mutation 'IGL01954:Ppp2r3c'
ID181373
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 #IGL01954
Quality Score
Status
Chromosome12
Chromosomal Location55278991-55302998 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55292568 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 170 (L170P)
Ref Sequence ENSEMBL: ENSMUSP00000021410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021410]
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
2310007B03Rik T A 1: 93,152,072 D432V probably damaging Het
4931406P16Rik A T 7: 34,245,035 W91R probably damaging Het
Acsm3 T C 7: 119,775,083 probably benign Het
Ankrd26 T A 6: 118,559,005 Y156F possibly damaging Het
Bcr G A 10: 75,175,341 probably null Het
Cpn2 C T 16: 30,260,320 A188T probably benign Het
Ctdsp1 T C 1: 74,394,083 probably benign Het
Cts7 T A 13: 61,352,823 R303S probably benign Het
Dock7 T C 4: 99,083,151 D59G probably damaging Het
Gm436 A T 4: 144,670,171 D330E probably damaging Het
Gpr149 T C 3: 62,530,927 N603S probably benign Het
Gucy2g A G 19: 55,198,691 I1099T probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Ighv1-80 A T 12: 115,912,633 V21D probably benign Het
Klhl18 T C 9: 110,428,866 Y432C probably damaging Het
Lama4 A G 10: 39,087,299 D1289G probably benign Het
Mcm7 T C 5: 138,167,245 T466A probably damaging Het
Megf8 A G 7: 25,349,014 E1704G possibly damaging Het
Mettl25 C T 10: 105,823,207 C405Y probably damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Ndc1 T A 4: 107,395,804 I590N probably damaging Het
Npnt G T 3: 132,909,963 N137K probably damaging Het
Numa1 C T 7: 101,996,093 R309* probably null Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr110 C A 17: 37,498,649 probably benign Het
Olfr266 A G 3: 106,821,995 I188T possibly damaging Het
Pcdhb9 G T 18: 37,401,741 V263F probably damaging Het
Pld4 T C 12: 112,767,921 probably null Het
Prex2 T A 1: 11,140,011 D558E possibly damaging Het
Rasal2 A G 1: 157,177,699 S227P possibly damaging Het
Rasal2 A T 1: 157,176,116 D324E probably damaging Het
Rcbtb1 A G 14: 59,229,967 Y418C probably damaging Het
Rhag T C 17: 40,828,450 F92S possibly damaging Het
Scel T C 14: 103,603,242 probably benign Het
Serinc5 A G 13: 92,682,933 N125S probably damaging Het
Sgpl1 A T 10: 61,100,893 M561K probably benign Het
Sostdc1 T C 12: 36,317,122 V99A probably damaging Het
Them6 A G 15: 74,721,689 Y132C probably damaging Het
Vmn2r27 A T 6: 124,192,248 F641Y probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13c A G 9: 67,969,298 Y3384C probably damaging Het
Zbtb32 G T 7: 30,589,928 probably null Het
Other mutations in Ppp2r3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Ppp2r3c APN 12 55292498 splice site probably null
IGL01122:Ppp2r3c APN 12 55297802 missense probably benign 0.20
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 On2014-05-07