Incidental Mutation 'R1693:Ppp2r5e'
ID 191953
Institutional Source Beutler Lab
Gene Symbol Ppp2r5e
Ensembl Gene ENSMUSG00000021051
Gene Name protein phosphatase 2, regulatory subunit B', epsilon
Synonyms B56beta, protein phosphatase 2A subunit beta, 4633401M22Rik
MMRRC Submission 039726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1693 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 75497655-75643019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 75516341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 239 (A239P)
Ref Sequence ENSEMBL: ENSMUSP00000021447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021447] [ENSMUST00000218012] [ENSMUST00000220035]
AlphaFold Q61151
Predicted Effect probably damaging
Transcript: ENSMUST00000021447
AA Change: A239P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: A239P

DomainStartEndE-ValueType
low complexity region 18 41 N/A INTRINSIC
Pfam:B56 48 453 3.2e-195 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218012
Predicted Effect probably damaging
Transcript: ENSMUST00000220035
AA Change: A205P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6233 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 96% (69/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by 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 epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 A G 11: 53,287,380 (GRCm39) D378G probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Aox1 T C 1: 58,124,701 (GRCm39) Y981H probably damaging Het
Arfgap2 T A 2: 91,100,420 (GRCm39) probably null Het
Ccnf TGGGGG TGGGGGGG 17: 24,445,514 (GRCm39) probably null Het
Cd53 T C 3: 106,676,205 (GRCm39) N54S possibly damaging Het
Cep152 C A 2: 125,408,174 (GRCm39) A1390S probably benign Het
Cfap91 A G 16: 38,162,085 (GRCm39) Y19H probably benign Het
Chd7 T C 4: 8,864,307 (GRCm39) probably null Het
Chrm5 A G 2: 112,309,625 (GRCm39) L497P probably damaging Het
Colec12 G A 18: 9,866,765 (GRCm39) V659M unknown Het
Creb3 C A 4: 43,566,755 (GRCm39) H390Q probably damaging Het
D1Pas1 T C 1: 186,700,226 (GRCm39) F52L probably benign Het
D5Ertd579e A G 5: 36,771,441 (GRCm39) F985L probably damaging Het
Dock4 C T 12: 40,884,721 (GRCm39) P1742S probably benign Het
Ehmt2 G T 17: 35,125,386 (GRCm39) V534L possibly damaging Het
Epcam A G 17: 87,947,324 (GRCm39) D26G probably benign Het
F2 C T 2: 91,459,524 (GRCm39) V420M probably damaging Het
Fbxw16 A T 9: 109,265,327 (GRCm39) D401E possibly damaging Het
Fiz1 T C 7: 5,011,727 (GRCm39) T264A probably benign Het
Fsbp T C 4: 11,583,745 (GRCm39) V148A probably benign Het
Furin A G 7: 80,042,230 (GRCm39) L455P probably damaging Het
Ggt7 G A 2: 155,348,395 (GRCm39) R10W probably damaging Het
Gucy2g T C 19: 55,211,358 (GRCm39) E624G probably damaging Het
Igf2r A G 17: 12,923,203 (GRCm39) F1202S probably damaging Het
Ikzf1 C T 11: 11,657,838 (GRCm39) P32S probably damaging Het
Itgal G A 7: 126,904,453 (GRCm39) V309M probably damaging Het
Kcnk5 C A 14: 20,191,964 (GRCm39) R399L probably damaging Het
Kdm5b C T 1: 134,525,314 (GRCm39) probably benign Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Lrp4 T C 2: 91,322,698 (GRCm39) Y1096H probably damaging Het
Lrrc7 C G 3: 157,790,170 (GRCm39) S1465T possibly damaging Het
Map3k5 A G 10: 19,979,988 (GRCm39) N832S probably damaging Het
Mrtfb C A 16: 13,216,334 (GRCm39) L349I possibly damaging Het
Mrtfb T A 16: 13,216,335 (GRCm39) L349Q probably damaging Het
Myh13 A C 11: 67,232,310 (GRCm39) M495L possibly damaging Het
Myh9 A C 15: 77,697,097 (GRCm39) Y106D probably damaging Het
Naa16 A T 14: 79,588,896 (GRCm39) W452R probably damaging Het
Nsd1 T C 13: 55,395,074 (GRCm39) S892P probably benign Het
Nup205 A G 6: 35,187,906 (GRCm39) I939V probably benign Het
Oit3 A G 10: 59,261,239 (GRCm39) F476S probably damaging Het
Or7e174 T C 9: 20,012,883 (GRCm39) V276A probably benign Het
Panx3 A T 9: 37,580,203 (GRCm39) M50K possibly damaging Het
Panx3 A C 9: 37,580,242 (GRCm39) M37R possibly damaging Het
Pip4p2 T A 4: 14,886,631 (GRCm39) D68E probably benign Het
Prkaca T A 8: 84,707,827 (GRCm39) D37E probably benign Het
Prkcq T A 2: 11,259,010 (GRCm39) I310N probably damaging Het
Prrc2c A G 1: 162,546,282 (GRCm39) Y235H probably damaging Het
Ptprj A T 2: 90,280,141 (GRCm39) C1052* probably null Het
Rad52 C A 6: 119,892,996 (GRCm39) P180Q probably damaging Het
Sdhaf3 T A 6: 7,038,964 (GRCm39) D95E probably benign Het
Slitrk6 A G 14: 110,988,360 (GRCm39) I449T probably damaging Het
Spata7 T A 12: 98,630,516 (GRCm39) M358K possibly damaging Het
Tada2a C T 11: 83,972,895 (GRCm39) G178D probably damaging Het
Tap2 G C 17: 34,428,186 (GRCm39) V287L probably benign Het
Tmem200a A G 10: 25,869,877 (GRCm39) F131L possibly damaging Het
Traip A T 9: 107,847,229 (GRCm39) K356M probably damaging Het
Tspan8 T A 10: 115,679,949 (GRCm39) probably benign Het
U2surp A T 9: 95,393,913 (GRCm39) M1K probably null Het
Vars1 A T 17: 35,217,172 (GRCm39) D427E probably benign Het
Vmn1r113 G A 7: 20,521,532 (GRCm39) C108Y probably damaging Het
Vmn2r63 T A 7: 42,577,743 (GRCm39) Q265L probably benign Het
Vps33b T A 7: 79,937,641 (GRCm39) V463E probably damaging Het
Vrtn T C 12: 84,695,429 (GRCm39) S60P probably benign Het
Zfp53 T A 17: 21,729,884 (GRCm39) V639D possibly damaging Het
Zfp964 T A 8: 70,116,800 (GRCm39) S466T possibly damaging Het
Other mutations in Ppp2r5e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Ppp2r5e APN 12 75,540,213 (GRCm39) missense probably damaging 1.00
IGL03398:Ppp2r5e APN 12 75,509,179 (GRCm39) missense possibly damaging 0.73
IGL03402:Ppp2r5e APN 12 75,511,667 (GRCm39) missense probably damaging 0.99
R0129:Ppp2r5e UTSW 12 75,509,164 (GRCm39) missense probably damaging 1.00
R0466:Ppp2r5e UTSW 12 75,509,216 (GRCm39) splice site probably benign
R0894:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R1452:Ppp2r5e UTSW 12 75,516,310 (GRCm39) splice site probably benign
R1551:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R1614:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R1844:Ppp2r5e UTSW 12 75,516,540 (GRCm39) missense possibly damaging 0.81
R1864:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R1908:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R1909:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R1933:Ppp2r5e UTSW 12 75,516,341 (GRCm39) missense probably damaging 1.00
R2181:Ppp2r5e UTSW 12 75,509,098 (GRCm39) missense probably benign 0.08
R3084:Ppp2r5e UTSW 12 75,515,390 (GRCm39) missense probably benign 0.23
R4212:Ppp2r5e UTSW 12 75,516,325 (GRCm39) missense probably damaging 1.00
R4213:Ppp2r5e UTSW 12 75,516,325 (GRCm39) missense probably damaging 1.00
R4680:Ppp2r5e UTSW 12 75,516,533 (GRCm39) missense probably damaging 1.00
R4761:Ppp2r5e UTSW 12 75,640,035 (GRCm39) missense possibly damaging 0.92
R5147:Ppp2r5e UTSW 12 75,516,544 (GRCm39) missense probably damaging 0.96
R5262:Ppp2r5e UTSW 12 75,640,045 (GRCm39) missense probably damaging 1.00
R5304:Ppp2r5e UTSW 12 75,562,459 (GRCm39) missense possibly damaging 0.75
R5429:Ppp2r5e UTSW 12 75,500,537 (GRCm39) missense probably damaging 0.99
R5439:Ppp2r5e UTSW 12 75,540,250 (GRCm39) missense probably benign
R7225:Ppp2r5e UTSW 12 75,515,353 (GRCm39) missense probably damaging 0.96
R7453:Ppp2r5e UTSW 12 75,509,116 (GRCm39) missense probably damaging 0.99
R7558:Ppp2r5e UTSW 12 75,511,766 (GRCm39) missense probably damaging 1.00
R8017:Ppp2r5e UTSW 12 75,511,703 (GRCm39) missense probably damaging 1.00
R8019:Ppp2r5e UTSW 12 75,511,703 (GRCm39) missense probably damaging 1.00
R8902:Ppp2r5e UTSW 12 75,500,570 (GRCm39) missense probably benign 0.19
R8969:Ppp2r5e UTSW 12 75,500,492 (GRCm39) missense possibly damaging 0.72
R9144:Ppp2r5e UTSW 12 75,506,468 (GRCm39) missense possibly damaging 0.95
R9228:Ppp2r5e UTSW 12 75,640,063 (GRCm39) nonsense probably null
R9524:Ppp2r5e UTSW 12 75,509,167 (GRCm39) missense possibly damaging 0.66
R9572:Ppp2r5e UTSW 12 75,562,468 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GCCCTTGAGAGTCACTTGGGAAAC -3'
(R):5'- TTGCCTAAAAGTGTCTCTAACCGCC -3'

Sequencing Primer
(F):5'- TCACTTGGGAAACAGGCTAAGC -3'
(R):5'- TTTGACAGTGAAGACCCTCG -3'
Posted On 2014-05-14