Incidental Mutation 'IGL01319:Ppp2r2c'
ID73976
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: 0.412) question?
Stock #IGL01319
Quality Score
Status
Chromosome5
Chromosomal Location36868513-36955078 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36947121 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 282 (S282T)
Ref Sequence ENSEMBL: ENSMUSP00000031003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031003]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031003
AA Change: S282T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031003
Gene: ENSMUSG00000029120
AA Change: S282T

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
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
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging Het
Other mutations in Ppp2r2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03118:Ppp2r2c APN 5 36926316 missense probably damaging 1.00
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 On2013-10-07