Incidental Mutation 'R4212:Ppp2r5e'
ID 319263
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 041641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4212 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 75497655-75643019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75516325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 244 (I244T)
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: I244T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: I244T

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: I210T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9400 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E 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
R1693: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
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'- AGCCCTTGAGAGTCACTTGG -3'
(R):5'- CAAGTTTCTCGGGCTTAGAGC -3'

Sequencing Primer
(F):5'- CCCTTGAGAGTCACTTGGGAAAC -3'
(R):5'- AGGTAAGTTGATGTTTTTGCAGAAGC -3'
Posted On 2015-06-10