Incidental Mutation 'IGL03118:Ppp2r2c'
ID 409870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r2c
Ensembl Gene ENSMUSG00000029120
Gene Name protein phosphatase 2, regulatory subunit B, gamma
Synonyms 6330548O06Rik, IMYPNO1, PR52
Accession Numbers
Essential gene? Possibly essential (E-score: 0.537) question?
Stock # IGL03118
Quality Score
Chromosome 5
Chromosomal Location 37025857-37112422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37083660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 67 (Y67C)
Ref Sequence ENSEMBL: ENSMUSP00000031003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031003] [ENSMUST00000201156]
AlphaFold Q8BG02
Predicted Effect probably damaging
Transcript: ENSMUST00000031003
AA Change: Y67C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031003
Gene: ENSMUSG00000029120
AA Change: Y67C

WD40 13 52 1.99e0 SMART
WD40 79 119 2.38e1 SMART
WD40 161 200 1.11e0 SMART
WD40 211 251 5.7e1 SMART
WD40 270 308 4.11e1 SMART
Blast:WD40 312 366 1e-24 BLAST
WD40 402 439 3.07e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201156
SMART Domains Protein: ENSMUSP00000144342
Gene: ENSMUSG00000029120

SCOP:d1kb0a2 4 51 3e-3 SMART
Blast:WD40 13 52 1e-21 BLAST
PDB:3DW8|E 21 64 5e-16 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 product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in Ppp2r2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Ppp2r2c APN 5 37,104,465 (GRCm39) missense possibly damaging 0.82
IGL01583:Ppp2r2c APN 5 37,026,166 (GRCm39) start codon destroyed probably null 0.99
IGL01662:Ppp2r2c APN 5 37,083,744 (GRCm39) missense probably damaging 1.00
IGL01674:Ppp2r2c APN 5 37,097,570 (GRCm39) missense possibly damaging 0.63
IGL02027:Ppp2r2c APN 5 37,109,816 (GRCm39) missense probably damaging 0.99
R0034:Ppp2r2c UTSW 5 37,084,883 (GRCm39) missense probably benign 0.02
R2036:Ppp2r2c UTSW 5 37,109,748 (GRCm39) missense possibly damaging 0.84
R4877:Ppp2r2c UTSW 5 37,026,214 (GRCm39) missense probably damaging 0.98
R4980:Ppp2r2c UTSW 5 37,109,732 (GRCm39) missense probably benign 0.01
R5838:Ppp2r2c UTSW 5 37,097,531 (GRCm39) missense probably benign 0.14
R6291:Ppp2r2c UTSW 5 37,097,468 (GRCm39) missense possibly damaging 0.95
R6940:Ppp2r2c UTSW 5 37,084,875 (GRCm39) missense probably damaging 0.98
R7405:Ppp2r2c UTSW 5 37,104,486 (GRCm39) missense possibly damaging 0.71
R7695:Ppp2r2c UTSW 5 37,104,526 (GRCm39) missense probably damaging 1.00
R7967:Ppp2r2c UTSW 5 37,097,450 (GRCm39) missense possibly damaging 0.88
R8307:Ppp2r2c UTSW 5 37,104,430 (GRCm39) missense probably damaging 1.00
R9643:Ppp2r2c UTSW 5 37,080,383 (GRCm39) missense probably damaging 0.99
R9715:Ppp2r2c UTSW 5 37,097,488 (GRCm39) missense possibly damaging 0.92
X0013:Ppp2r2c UTSW 5 37,083,669 (GRCm39) missense probably damaging 1.00
Z1176:Ppp2r2c UTSW 5 37,088,621 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02