Incidental Mutation 'IGL03118:Ppp2r2c'
ID409870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r2c
Ensembl Gene ENSMUSG00000029120
Gene Nameprotein phosphatase 2, regulatory subunit B, gamma
Synonyms6330548O06Rik, IMYPNO1, PR52
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock #IGL03118
Quality Score
Status
Chromosome5
Chromosomal Location36868513-36955078 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36926316 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 24,400,450 G921S probably benign Het
Abca8b T C 11: 109,947,181 T1082A possibly damaging Het
AF366264 C T 8: 13,838,096 probably benign Het
B9d2 T C 7: 25,681,476 probably null Het
Bfsp1 T C 2: 143,827,333 E442G possibly damaging Het
Bpifb5 C T 2: 154,236,753 probably benign Het
Ccl1 A G 11: 82,178,070 I47T probably damaging Het
Cln3 T C 7: 126,575,397 I285V probably null Het
Cyp4a12b G T 4: 115,432,976 R242I possibly damaging Het
Dcc T C 18: 71,420,273 T771A probably benign Het
Erbb4 T C 1: 68,042,719 D1052G probably benign Het
Fcnb T C 2: 28,076,618 N301S probably benign Het
Gm28043 A C 17: 29,634,731 E403A probably damaging Het
Gria4 A G 9: 4,793,804 probably benign Het
Ighv5-12 T A 12: 113,702,578 M1L probably benign Het
Il17rd A G 14: 27,093,395 probably null Het
Kcnn3 T A 3: 89,667,161 L660Q probably damaging Het
Lcor C T 19: 41,558,369 P131S probably damaging Het
Leng1 T C 7: 3,665,410 N13S probably damaging Het
Loxhd1 T C 18: 77,380,464 V827A probably damaging Het
Mapk13 A G 17: 28,777,735 Y208C probably benign Het
Mybpc3 T C 2: 91,124,503 V453A probably damaging Het
Odam T C 5: 87,885,754 S15P unknown Het
Olfr26 A T 9: 38,855,230 H56L probably damaging Het
Olfr323 A T 11: 58,625,443 V201D probably damaging Het
Pcdhb19 T C 18: 37,499,565 probably benign Het
Per2 G T 1: 91,444,619 Y244* probably null Het
Pik3ca A T 3: 32,459,935 I857F probably damaging Het
Pold1 T A 7: 44,539,400 I447F probably benign Het
Ppm1f T A 16: 16,914,078 W131R probably null Het
Psmb10 A T 8: 105,936,900 H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 A149V probably benign Het
Pygb T A 2: 150,820,811 V566E probably benign Het
Rictor G A 15: 6,759,518 R205Q possibly damaging Het
Ryr1 T A 7: 29,015,786 R4638W unknown Het
Sept3 G A 15: 82,284,514 probably null Het
Serpina3b A T 12: 104,131,054 D198V probably benign Het
Slc27a6 C A 18: 58,556,743 H94N probably benign Het
Taf2 C T 15: 55,052,163 V456M probably damaging Het
Tbpl2 T C 2: 24,087,289 E238G probably benign Het
Ttn C T 2: 76,754,207 V20440I possibly damaging Het
Zfp638 T A 6: 83,935,018 probably benign Het
Zfp865 T C 7: 5,034,645 probably benign Het
Other mutations in Ppp2r2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Ppp2r2c APN 5 36947121 missense possibly damaging 0.82
IGL01583:Ppp2r2c APN 5 36868822 start codon destroyed probably null 0.99
IGL01662:Ppp2r2c APN 5 36926400 missense probably damaging 1.00
IGL01674:Ppp2r2c APN 5 36940226 missense possibly damaging 0.63
IGL02027:Ppp2r2c APN 5 36952472 missense probably damaging 0.99
R0034:Ppp2r2c UTSW 5 36927539 missense probably benign 0.02
R2036:Ppp2r2c UTSW 5 36952404 missense possibly damaging 0.84
R4877:Ppp2r2c UTSW 5 36868870 missense probably damaging 0.98
R4980:Ppp2r2c UTSW 5 36952388 missense probably benign 0.01
R5838:Ppp2r2c UTSW 5 36940187 missense probably benign 0.14
R6291:Ppp2r2c UTSW 5 36940124 missense possibly damaging 0.95
R6940:Ppp2r2c UTSW 5 36927531 missense probably damaging 0.98
R7405:Ppp2r2c UTSW 5 36947142 missense possibly damaging 0.71
R7695:Ppp2r2c UTSW 5 36947182 missense probably damaging 1.00
R7967:Ppp2r2c UTSW 5 36940106 missense possibly damaging 0.88
R8307:Ppp2r2c UTSW 5 36947086 missense probably damaging 1.00
X0013:Ppp2r2c UTSW 5 36926325 missense probably damaging 1.00
Z1176:Ppp2r2c UTSW 5 36931277 missense probably benign 0.09
Posted On2016-08-02