Incidental Mutation 'IGL02024:Ppp2r2a'
ID184069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r2a
Ensembl Gene ENSMUSG00000022052
Gene Nameprotein phosphatase 2, regulatory subunit B, alpha
Synonyms2410004D02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02024
Quality Score
Status
Chromosome14
Chromosomal Location67014056-67072444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67038912 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 48 (K48R)
Ref Sequence ENSEMBL: ENSMUSP00000153191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089230] [ENSMUST00000225251] [ENSMUST00000225380]
Predicted Effect probably benign
Transcript: ENSMUST00000089230
AA Change: K48R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: K48R

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 probably benign
Transcript: ENSMUST00000225251
Predicted Effect probably benign
Transcript: ENSMUST00000225380
AA Change: K48R

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225469
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik G A X: 89,931,523 T356I probably benign Het
Aass G A 6: 23,113,706 H246Y probably damaging Het
Abat G A 16: 8,611,136 A322T probably damaging Het
Bcat1 A G 6: 145,032,838 V152A probably damaging Het
Btaf1 A G 19: 36,992,426 probably benign Het
Elavl2 T C 4: 91,253,539 T291A probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Fcgbp G A 7: 28,106,374 C2026Y probably damaging Het
Fcgrt T A 7: 45,095,258 H258L probably damaging Het
Galnt6 C T 15: 100,703,493 D302N probably benign Het
Gldc T A 19: 30,100,827 R923S probably damaging Het
Hspg2 G T 4: 137,540,073 A2033S probably damaging Het
Htr2c T A X: 147,075,925 M77K probably damaging Het
Ifi208 A G 1: 173,683,290 Y337C probably damaging Het
Ints11 G T 4: 155,888,515 W554L probably damaging Het
Itgbl1 T A 14: 123,857,492 C186S probably damaging Het
Lipf A G 19: 33,976,595 Y362C probably damaging Het
Map2k7 T A 8: 4,247,663 S421R possibly damaging Het
Mroh9 T G 1: 163,062,502 N222T possibly damaging Het
Msl3 C A X: 168,670,251 R89L probably benign Het
Nrip1 T A 16: 76,291,675 D998V probably benign Het
Nrk T A X: 138,995,929 I1265N probably damaging Het
Ntn5 A G 7: 45,691,406 probably benign Het
Olfr1153 A T 2: 87,896,899 R233S possibly damaging Het
Olfr743 A G 14: 50,533,850 N146S probably benign Het
Olfr750 T G 14: 51,071,309 E28A probably benign Het
Plch2 T C 4: 155,043,138 probably benign Het
Porcn C T X: 8,201,662 V233I probably benign Het
Rccd1 A T 7: 80,319,007 D268E probably benign Het
Sacs C A 14: 61,189,678 S178R probably damaging Het
Samd12 T A 15: 53,658,466 D116V probably damaging Het
Slc12a8 A G 16: 33,608,198 E46G probably damaging Het
Slc30a10 A T 1: 185,455,241 I60F possibly damaging Het
Slc6a8 C T X: 73,678,977 probably benign Het
Sos2 A G 12: 69,618,048 probably benign Het
Tbc1d31 T C 15: 57,919,942 V79A probably benign Het
Tmem184c A T 8: 77,604,814 V102E probably benign Het
Ttc19 G T 11: 62,313,113 R300I probably damaging Het
Unc5d T A 8: 28,652,827 I866F probably benign Het
Vmn1r7 A T 6: 57,024,889 C129S probably benign Het
Vps41 T A 13: 18,791,657 probably benign Het
Vwa8 C T 14: 79,094,284 A1275V possibly damaging Het
Other mutations in Ppp2r2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Ppp2r2a APN 14 67070277 missense probably damaging 0.96
IGL01997:Ppp2r2a APN 14 67016519 missense probably benign
IGL02178:Ppp2r2a APN 14 67023097 missense probably damaging 1.00
IGL03148:Ppp2r2a APN 14 67022295 missense probably benign 0.00
IGL03304:Ppp2r2a APN 14 67016528 missense probably benign 0.13
limber UTSW 14 67019804 missense probably damaging 1.00
R1216:Ppp2r2a UTSW 14 67028998 nonsense probably null
R1576:Ppp2r2a UTSW 14 67038869 splice site probably benign
R1629:Ppp2r2a UTSW 14 67019759 missense possibly damaging 0.93
R1662:Ppp2r2a UTSW 14 67016603 missense probably benign
R1808:Ppp2r2a UTSW 14 67038963 missense probably damaging 1.00
R1937:Ppp2r2a UTSW 14 67016429 missense possibly damaging 0.93
R2121:Ppp2r2a UTSW 14 67023128 missense probably damaging 1.00
R2134:Ppp2r2a UTSW 14 67016475 missense possibly damaging 0.63
R3150:Ppp2r2a UTSW 14 67023765 missense probably damaging 1.00
R3694:Ppp2r2a UTSW 14 67019750 missense probably damaging 1.00
R3695:Ppp2r2a UTSW 14 67019750 missense probably damaging 1.00
R3825:Ppp2r2a UTSW 14 67022443 missense probably damaging 0.98
R4031:Ppp2r2a UTSW 14 67028976 missense probably damaging 1.00
R4209:Ppp2r2a UTSW 14 67028879 missense probably damaging 1.00
R4353:Ppp2r2a UTSW 14 67028937 missense probably damaging 1.00
R4639:Ppp2r2a UTSW 14 67038957 missense probably damaging 1.00
R4976:Ppp2r2a UTSW 14 67016637 missense possibly damaging 0.71
R5001:Ppp2r2a UTSW 14 67022308 nonsense probably null
R5106:Ppp2r2a UTSW 14 67023097 missense probably damaging 1.00
R5322:Ppp2r2a UTSW 14 67038873 critical splice donor site probably null
R5360:Ppp2r2a UTSW 14 67016571 nonsense probably null
R5429:Ppp2r2a UTSW 14 67023756 missense probably damaging 1.00
R5439:Ppp2r2a UTSW 14 67022323 missense possibly damaging 0.70
R6250:Ppp2r2a UTSW 14 67038954 missense probably damaging 1.00
R6582:Ppp2r2a UTSW 14 67019804 missense probably damaging 1.00
R8263:Ppp2r2a UTSW 14 67023756 missense probably damaging 1.00
R8315:Ppp2r2a UTSW 14 67023728 missense probably damaging 1.00
Posted On2014-05-07