Incidental Mutation 'IGL01997:Ppp2r2a'
ID 182110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r2a
Ensembl Gene ENSMUSG00000022052
Gene Name protein phosphatase 2, regulatory subunit B, alpha
Synonyms 2410004D02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01997
Quality Score
Status
Chromosome 14
Chromosomal Location 67251505-67309893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67253968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 400 (S400N)
Ref Sequence ENSEMBL: ENSMUSP00000086640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089230] [ENSMUST00000225251] [ENSMUST00000225380]
AlphaFold Q6P1F6
Predicted Effect probably benign
Transcript: ENSMUST00000089230
AA Change: S400N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: S400N

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 benign
Transcript: ENSMUST00000225380
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,583,027 (GRCm39) T83I probably damaging Het
Aoah A T 13: 21,184,108 (GRCm39) M391L probably benign Het
Apc A G 18: 34,448,476 (GRCm39) T1757A probably benign Het
B4galt5 A G 2: 167,143,261 (GRCm39) Y388H probably benign Het
Cyp3a25 A T 5: 145,931,766 (GRCm39) M114K possibly damaging Het
Dcbld1 A G 10: 52,193,206 (GRCm39) E246G probably damaging Het
Fstl4 T A 11: 53,053,881 (GRCm39) Y404* probably null Het
Gnat3 G T 5: 18,204,721 (GRCm39) E125* probably null Het
Hspa5 C T 2: 34,662,327 (GRCm39) probably benign Het
Krt72 A G 15: 101,693,315 (GRCm39) S200P probably damaging Het
Mab21l3 G A 3: 101,725,955 (GRCm39) T347I probably damaging Het
Map2k7 A G 8: 4,293,442 (GRCm39) E104G probably benign Het
Map3k9 T C 12: 81,819,471 (GRCm39) D261G probably damaging Het
Mepe C T 5: 104,485,466 (GRCm39) P202L probably damaging Het
Mill1 G A 7: 17,989,814 (GRCm39) G32D probably damaging Het
Mmp20 T G 9: 7,639,261 (GRCm39) M143R probably benign Het
Mms19 A T 19: 41,944,970 (GRCm39) L302H probably damaging Het
Myh13 T A 11: 67,257,992 (GRCm39) I1728K probably benign Het
Nsun2 C T 13: 69,771,365 (GRCm39) P290L probably damaging Het
Nwd2 A T 5: 63,961,938 (GRCm39) R507S probably damaging Het
Os9 T A 10: 126,955,312 (GRCm39) H147L probably benign Het
Piezo1 T C 8: 123,215,070 (GRCm39) probably benign Het
Plekhf1 A T 7: 37,920,752 (GRCm39) V272D probably damaging Het
Pnisr T C 4: 21,871,537 (GRCm39) I419T possibly damaging Het
Ppp1r3d G T 2: 178,055,447 (GRCm39) T185K possibly damaging Het
Rpl21 T C 5: 146,772,418 (GRCm39) I96T probably benign Het
S1pr3 C T 13: 51,573,751 (GRCm39) R311W probably damaging Het
Senp5 T C 16: 31,782,288 (GRCm39) K736R probably damaging Het
Slfn9 T C 11: 82,878,503 (GRCm39) I209V possibly damaging Het
Traf3ip1 T A 1: 91,435,292 (GRCm39) probably null Het
Tyk2 A G 9: 21,021,790 (GRCm39) F879L probably damaging Het
Vmn2r53 T C 7: 12,316,373 (GRCm39) D482G possibly damaging Het
Vmn2r65 A G 7: 84,589,978 (GRCm39) F646S probably damaging Het
Vps13b T A 15: 35,709,370 (GRCm39) S1772R probably damaging Het
Vwde C T 6: 13,215,705 (GRCm39) C117Y probably damaging Het
Zfyve26 T C 12: 79,291,174 (GRCm39) I2144V probably benign Het
Other mutations in Ppp2r2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Ppp2r2a APN 14 67,307,726 (GRCm39) missense probably damaging 0.96
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
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
Posted On 2014-05-07