Incidental Mutation 'R5429:Ppp2r2a'
ID 427088
Institutional Source Beutler Lab
Gene Symbol Ppp2r2a
Ensembl Gene ENSMUSG00000022052
Gene Name protein phosphatase 2, regulatory subunit B, alpha
Synonyms 2410004D02Rik
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 67251505-67309893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67261205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 172 (F172I)
Ref Sequence ENSEMBL: ENSMUSP00000153191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089230] [ENSMUST00000225251] [ENSMUST00000225380]
AlphaFold Q6P1F6
Predicted Effect probably damaging
Transcript: ENSMUST00000089230
AA Change: F172I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: F172I

DomainStartEndE-ValueType
WD40 21 56 1.33e1 SMART
WD40 83 123 6.88e0 SMART
WD40 165 204 2.3e0 SMART
WD40 215 255 8.88e0 SMART
WD40 274 312 5.11e1 SMART
WD40 339 370 1.42e2 SMART
WD40 406 443 2.47e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223630
Predicted Effect probably benign
Transcript: ENSMUST00000225251
Predicted Effect probably damaging
Transcript: ENSMUST00000225380
AA Change: F172I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225469
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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 an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,252,652 (GRCm39) S261A possibly damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Auts2 G A 5: 131,501,173 (GRCm39) T289M probably damaging Het
Btaf1 G A 19: 36,972,257 (GRCm39) V1331I possibly damaging Het
Ciz1 T A 2: 32,266,055 (GRCm39) I609K possibly damaging Het
Clca3b C T 3: 144,552,220 (GRCm39) V154I probably damaging Het
Csde1 A G 3: 102,960,157 (GRCm39) T564A possibly damaging Het
Csrnp2 A G 15: 100,379,935 (GRCm39) V452A probably benign Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dock6 T C 9: 21,744,177 (GRCm39) D677G probably damaging Het
Filip1l A T 16: 57,390,618 (GRCm39) E402V probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ghr G A 15: 3,418,157 (GRCm39) Q37* probably null Het
Gm10770 C T 2: 150,021,343 (GRCm39) R58H probably benign Het
Gm12789 T C 4: 101,847,158 (GRCm39) Y148H possibly damaging Het
Herc4 T A 10: 63,110,792 (GRCm39) N234K probably benign Het
Itih3 A G 14: 30,645,478 (GRCm39) V10A probably benign Het
Kat14 T A 2: 144,235,243 (GRCm39) D234E probably benign Het
Kif13a A G 13: 46,926,245 (GRCm39) probably null Het
Kif2b A G 11: 91,468,055 (GRCm39) V76A probably benign Het
Mboat1 A G 13: 30,403,650 (GRCm39) T150A probably benign Het
Mfsd1 T A 3: 67,507,293 (GRCm39) L398H probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm39) C705R probably damaging Het
Or13a27 A G 7: 139,925,186 (GRCm39) F239L possibly damaging Het
Or2ak5 T A 11: 58,611,350 (GRCm39) N175Y probably damaging Het
Pcdh10 T C 3: 45,338,635 (GRCm39) S931P probably benign Het
Pdpk1 T C 17: 24,310,534 (GRCm39) E205G probably benign Het
Ppp2r5e T A 12: 75,500,537 (GRCm39) D452V probably damaging Het
Rims2 A T 15: 39,208,751 (GRCm39) T185S probably damaging Het
Rpusd4 T C 9: 35,183,898 (GRCm39) V209A probably benign Het
Safb T C 17: 56,895,822 (GRCm39) V20A probably benign Het
Scaf8 C A 17: 3,247,385 (GRCm39) P903T probably benign Het
Slc30a7 A G 3: 115,800,574 (GRCm39) S31P possibly damaging Het
Slc9b1 T C 3: 135,079,024 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tbc1d32 T C 10: 55,904,089 (GRCm39) D1226G probably damaging Het
Tlnrd1 G T 7: 83,531,522 (GRCm39) T303N probably damaging Het
Tmc1 G T 19: 20,766,986 (GRCm39) N738K possibly damaging Het
Tmem41a A G 16: 21,753,606 (GRCm39) I255T probably benign Het
Trim7 G A 11: 48,740,782 (GRCm39) C293Y probably damaging Het
Trpc6 C T 9: 8,634,075 (GRCm39) Q385* probably null Het
Ttc39b A G 4: 83,162,190 (GRCm39) I330T possibly damaging Het
Vil1 C T 1: 74,471,490 (GRCm39) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm39) V1201A probably damaging Het
Zfp473 T A 7: 44,382,272 (GRCm39) E686V possibly damaging Het
Zfp998 G A 13: 66,579,887 (GRCm39) P199S probably benign Het
Other mutations in Ppp2r2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Ppp2r2a APN 14 67,307,726 (GRCm39) missense probably damaging 0.96
IGL01997:Ppp2r2a APN 14 67,253,968 (GRCm39) missense probably benign
IGL02024:Ppp2r2a APN 14 67,276,361 (GRCm39) missense probably benign 0.06
IGL02178:Ppp2r2a APN 14 67,260,546 (GRCm39) missense probably damaging 1.00
IGL03148:Ppp2r2a APN 14 67,259,744 (GRCm39) missense probably benign 0.00
IGL03304:Ppp2r2a APN 14 67,253,977 (GRCm39) missense probably benign 0.13
limber UTSW 14 67,257,253 (GRCm39) missense probably damaging 1.00
R1216:Ppp2r2a UTSW 14 67,266,447 (GRCm39) nonsense probably null
R1576:Ppp2r2a UTSW 14 67,276,318 (GRCm39) splice site probably benign
R1629:Ppp2r2a UTSW 14 67,257,208 (GRCm39) missense possibly damaging 0.93
R1662:Ppp2r2a UTSW 14 67,254,052 (GRCm39) missense probably benign
R1808:Ppp2r2a UTSW 14 67,276,412 (GRCm39) missense probably damaging 1.00
R1937:Ppp2r2a UTSW 14 67,253,878 (GRCm39) missense possibly damaging 0.93
R2121:Ppp2r2a UTSW 14 67,260,577 (GRCm39) missense probably damaging 1.00
R2134:Ppp2r2a UTSW 14 67,253,924 (GRCm39) missense possibly damaging 0.63
R3150:Ppp2r2a UTSW 14 67,261,214 (GRCm39) missense probably damaging 1.00
R3694:Ppp2r2a UTSW 14 67,257,199 (GRCm39) missense probably damaging 1.00
R3695:Ppp2r2a UTSW 14 67,257,199 (GRCm39) missense probably damaging 1.00
R3825:Ppp2r2a UTSW 14 67,259,892 (GRCm39) missense probably damaging 0.98
R4031:Ppp2r2a UTSW 14 67,266,425 (GRCm39) missense probably damaging 1.00
R4209:Ppp2r2a UTSW 14 67,266,328 (GRCm39) missense probably damaging 1.00
R4353:Ppp2r2a UTSW 14 67,266,386 (GRCm39) missense probably damaging 1.00
R4639:Ppp2r2a UTSW 14 67,276,406 (GRCm39) missense probably damaging 1.00
R4976:Ppp2r2a UTSW 14 67,254,086 (GRCm39) missense possibly damaging 0.71
R5001:Ppp2r2a UTSW 14 67,259,757 (GRCm39) nonsense probably null
R5106:Ppp2r2a UTSW 14 67,260,546 (GRCm39) missense probably damaging 1.00
R5322:Ppp2r2a UTSW 14 67,276,322 (GRCm39) critical splice donor site probably null
R5360:Ppp2r2a UTSW 14 67,254,020 (GRCm39) nonsense probably null
R5439:Ppp2r2a UTSW 14 67,259,772 (GRCm39) missense possibly damaging 0.70
R6250:Ppp2r2a UTSW 14 67,276,403 (GRCm39) missense probably damaging 1.00
R6582:Ppp2r2a UTSW 14 67,257,253 (GRCm39) missense probably damaging 1.00
R8263:Ppp2r2a UTSW 14 67,261,205 (GRCm39) missense probably damaging 1.00
R8315:Ppp2r2a UTSW 14 67,261,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAGGACTCAAATATATCTAGGAGAG -3'
(R):5'- TGCTTAACAGAACCAACATCAGTG -3'

Sequencing Primer
(F):5'- TAGGAGAGAAGATAAATCTAATGGGG -3'
(R):5'- TCATGGTCTTGTGACTCTT -3'
Posted On 2016-09-01