Incidental Mutation 'R2121:Ppp2r2a'
ID 231473
Institutional Source Beutler Lab
Gene Symbol Ppp2r2a
Ensembl Gene ENSMUSG00000022052
Gene Name protein phosphatase 2, regulatory subunit B, alpha
Synonyms 2410004D02Rik
MMRRC Submission 040125-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2121 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 67251505-67309893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67260577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 234 (F234I)
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: F234I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: F234I

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: F234I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225469
Meta Mutation Damage Score 0.8815 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adnp2 A G 18: 80,172,385 (GRCm39) F675L probably benign Het
Akna G A 4: 63,295,137 (GRCm39) T1024I probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Aox3 T C 1: 58,191,708 (GRCm39) probably benign Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef26 A T 3: 62,247,704 (GRCm39) N263Y probably damaging Het
Arpp21 A G 9: 111,965,738 (GRCm39) S375P probably damaging Het
Bscl2 G T 19: 8,817,146 (GRCm39) E25* probably null Het
Ccl12 T A 11: 81,992,776 (GRCm39) S17R probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Ceacam9 T A 7: 16,455,928 (GRCm39) F12I probably benign Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Cldn23 A G 8: 36,293,389 (GRCm39) V33A probably benign Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Col20a1 G C 2: 180,638,249 (GRCm39) A346P probably damaging Het
Col6a3 T C 1: 90,738,087 (GRCm39) D537G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Diaph1 A T 18: 38,029,442 (GRCm39) M330K unknown Het
Dnah5 C T 15: 28,297,151 (GRCm39) probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancl G T 11: 26,409,841 (GRCm39) probably benign Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gstm7 T C 3: 107,834,230 (GRCm39) M175V probably benign Het
Hcn4 T C 9: 58,731,341 (GRCm39) S183P unknown Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Kdm3b T C 18: 34,929,833 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Lyst A G 13: 13,835,556 (GRCm39) Y1746C probably damaging Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mlc1 A G 15: 88,847,634 (GRCm39) Y305H probably benign Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Muc4 A G 16: 32,580,612 (GRCm39) Y2474C unknown Het
Mybphl A C 3: 108,282,492 (GRCm39) N175T probably damaging Het
Ncbp3 T C 11: 72,944,304 (GRCm39) V102A possibly damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Odad4 T A 11: 100,457,837 (GRCm39) probably null Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Or8j3 T A 2: 86,028,340 (GRCm39) Y252F possibly damaging Het
Palb2 T C 7: 121,727,004 (GRCm39) T289A possibly damaging Het
Pde10a A T 17: 9,196,047 (GRCm39) Q657L probably damaging Het
Prl3c1 T A 13: 27,383,325 (GRCm39) probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Serpina3m A G 12: 104,355,941 (GRCm39) M203V possibly damaging Het
Slc6a21 A T 7: 44,937,886 (GRCm39) I726F probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tfdp2 T C 9: 96,177,067 (GRCm39) S75P probably damaging Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmed11 G A 5: 108,943,198 (GRCm39) probably benign Het
Tmem81 C A 1: 132,435,847 (GRCm39) Q218K probably benign Het
Tnfsf11 G A 14: 78,537,333 (GRCm39) T110I probably benign Het
Tub G A 7: 108,625,944 (GRCm39) G232S probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,315,880 (GRCm39) T621A probably benign Het
Ythdf3 T C 3: 16,259,356 (GRCm39) F501S possibly damaging 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
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
R5429:Ppp2r2a UTSW 14 67,261,205 (GRCm39) missense probably damaging 1.00
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'- GGCTTCCAGTGGAATAAACAACAC -3'
(R):5'- CCACCCTGTCTATAGATGGGAAG -3'

Sequencing Primer
(F):5'- CACAGGCTCAGGTCAAGTC -3'
(R):5'- CCCTGTCTATAGATGGGAAGAACTC -3'
Posted On 2014-09-18