Incidental Mutation 'IGL02714:Ppp2r5b'
ID304690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r5b
Ensembl Gene ENSMUSG00000024777
Gene Nameprotein phosphatase 2, regulatory subunit B', beta
SynonymsB'beta
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.418) question?
Stock #IGL02714
Quality Score
Status
Chromosome19
Chromosomal Location6227765-6235872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 6234707 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 42 (R42H)
Ref Sequence ENSEMBL: ENSMUSP00000025695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025695]
Predicted Effect probably damaging
Transcript: ENSMUST00000025695
AA Change: R42H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777
AA Change: R42H

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
low complexity region 32 48 N/A INTRINSIC
Pfam:B56 62 467 5.2e-187 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153155
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 2A regulatory subunit B family. Protein phosphatase 2A 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 beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam T A 7: 19,758,807 probably benign Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cd86 T C 16: 36,620,928 D59G possibly damaging Het
Ckmt2 A G 13: 91,858,308 M306T possibly damaging Het
Dsc1 T C 18: 20,087,485 E744G probably damaging Het
Gpr139 T A 7: 119,145,119 D81V possibly damaging Het
Lsg1 T C 16: 30,585,550 probably null Het
Ly9 A G 1: 171,605,118 V109A possibly damaging Het
Mcm3ap T A 10: 76,511,033 S1806T probably benign Het
Met T A 6: 17,491,852 Y204* probably null Het
Olfr881 T A 9: 37,993,086 I198N possibly damaging Het
Ppp1r13l T C 7: 19,377,643 S798P possibly damaging Het
Prg2 T A 2: 84,983,505 I220N probably damaging Het
Prph A G 15: 99,056,866 D271G probably damaging Het
Rassf9 T A 10: 102,512,563 L9Q possibly damaging Het
Rpap3 A G 15: 97,696,577 Y157H possibly damaging Het
Tacstd2 A T 6: 67,535,069 I213N probably damaging Het
Tlr12 A G 4: 128,617,713 L248P probably damaging Het
Trip11 A T 12: 101,884,001 I1268N probably damaging Het
Zp1 C T 19: 10,918,612 G220D probably damaging Het
Other mutations in Ppp2r5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ppp2r5b APN 19 6230968 missense probably damaging 1.00
IGL02937:Ppp2r5b APN 19 6230986 missense probably damaging 1.00
PIT4696001:Ppp2r5b UTSW 19 6234683 missense probably benign 0.12
R0114:Ppp2r5b UTSW 19 6228431 missense probably benign
R0333:Ppp2r5b UTSW 19 6229047 unclassified probably benign
R0627:Ppp2r5b UTSW 19 6232634 unclassified probably benign
R1477:Ppp2r5b UTSW 19 6230227 missense probably benign 0.01
R1628:Ppp2r5b UTSW 19 6230905 critical splice donor site probably null
R4066:Ppp2r5b UTSW 19 6229330 missense probably damaging 1.00
R4834:Ppp2r5b UTSW 19 6230510 missense possibly damaging 0.81
R5854:Ppp2r5b UTSW 19 6230944 missense probably damaging 1.00
R5895:Ppp2r5b UTSW 19 6234734 missense probably damaging 1.00
R6102:Ppp2r5b UTSW 19 6234738 missense probably benign 0.00
R6285:Ppp2r5b UTSW 19 6230536 missense probably benign 0.08
R7087:Ppp2r5b UTSW 19 6232550 missense possibly damaging 0.46
R7391:Ppp2r5b UTSW 19 6228514 missense probably benign 0.00
Posted On2015-04-16