Incidental Mutation 'V5622:Ppp2r5a'
ID166123
Institutional Source Beutler Lab
Gene Symbol Ppp2r5a
Ensembl Gene ENSMUSG00000026626
Gene Nameprotein phosphatase 2, regulatory subunit B', alpha
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.278) question?
Stock #V5622 () of strain 521
Quality Score109
Status Not validated
Chromosome1
Chromosomal Location191351975-191403272 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 191359001 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 210 (V210I)
Ref Sequence ENSEMBL: ENSMUSP00000070726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067976]
Predicted Effect probably benign
Transcript: ENSMUST00000067976
AA Change: V210I

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626
AA Change: V210I

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 30 51 N/A INTRINSIC
Pfam:B56 56 462 3.6e-193 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191920
Predicted Effect probably benign
Transcript: ENSMUST00000191925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195605
Coding Region Coverage
  • 1x: 94.1%
  • 3x: 94.1%
  • 10x: 94.0%
  • 20x: 93.9%
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 an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C T 4: 147,941,776 S251F probably benign Het
Ccar2 G T 14: 70,151,289 L158I probably damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
Gm10719 A G 9: 3,021,253 probably null Het
Gm10720 A C 9: 3,015,669 N6H probably benign Het
Gm13212 C T 4: 145,585,321 probably benign Het
Gm21738 C T 14: 19,417,180 C116Y probably damaging Het
Gm8688 T G 8: 99,664,520 noncoding transcript Het
Hjurp A G 1: 88,277,525 probably benign Het
Hspg2 C A 4: 137,533,738 Q1648K probably damaging Het
Hvcn1 TGAGGAGGAGGAGGAGGAG TGAGGAGGAGGAGGAG 5: 122,233,539 probably benign Het
Megf11 C A 9: 64,690,069 C674* probably null Het
Mroh2a C T 1: 88,227,091 probably benign Het
Muc4 T C 16: 32,751,825 S568P probably benign Het
Naip2 A T 13: 100,155,021 D1136E probably benign Het
Npm1 C T 11: 33,161,186 V60I probably benign Het
Trim43b T C 9: 89,092,545 probably benign Het
Vmn2r115 T C 17: 23,346,227 S363P probably damaging Het
Vmn2r115 T C 17: 23,359,359 I602T probably benign Het
Vmn2r117 C T 17: 23,477,840 A198T probably damaging Het
Vmn2r117 C G 17: 23,479,505 Q31H possibly damaging Het
Vmn2r88 C G 14: 51,413,127 T99S probably benign Het
Wdr17 C T 8: 54,693,096 A90T possibly damaging Het
Zbtb12 C A 17: 34,896,301 A354E possibly damaging Het
Zfp180 A G 7: 24,082,031 probably benign Het
Other mutations in Ppp2r5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03297:Ppp2r5a APN 1 191354762 missense probably benign 0.28
R1640:Ppp2r5a UTSW 1 191353929 missense probably damaging 0.99
R3005:Ppp2r5a UTSW 1 191358976 missense probably damaging 1.00
R4810:Ppp2r5a UTSW 1 191356392 unclassified probably benign
R5730:Ppp2r5a UTSW 1 191372535 missense probably benign 0.04
R5769:Ppp2r5a UTSW 1 191372666 missense probably benign 0.02
R5783:Ppp2r5a UTSW 1 191354640 missense probably damaging 0.98
R6215:Ppp2r5a UTSW 1 191362250 missense probably benign 0.02
R7311:Ppp2r5a UTSW 1 191357801 missense probably damaging 1.00
R7485:Ppp2r5a UTSW 1 191396335 missense probably benign 0.07
R7545:Ppp2r5a UTSW 1 191372609 missense probably benign 0.00
V5622:Ppp2r5a UTSW 1 191358992 missense probably damaging 1.00
Predicted Primers
Posted On2014-04-07