Incidental Mutation 'IGL03398:Ppp2r5e'
ID421331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r5e
Ensembl Gene ENSMUSG00000021051
Gene Nameprotein phosphatase 2, regulatory subunit B', epsilon
SynonymsB56beta, protein phosphatase 2A subunit beta, 4633401M22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03398
Quality Score
Status
Chromosome12
Chromosomal Location75450881-75596245 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 75462405 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Glycine at position 367 (W367G)
Ref Sequence ENSEMBL: ENSMUSP00000021447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021447] [ENSMUST00000218012] [ENSMUST00000220035]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021447
AA Change: W367G

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: W367G

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 benign
Transcript: ENSMUST00000220035
AA Change: W333G

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A T 3: 108,461,221 V818D possibly damaging Het
Aasdh T A 5: 76,891,719 I248L probably benign Het
Ackr2 C T 9: 121,908,588 L10F probably damaging Het
Ankhd1 A G 18: 36,656,837 probably benign Het
Arhgap5 A G 12: 52,517,311 E355G probably damaging Het
Arhgef12 A G 9: 42,978,226 V1031A probably damaging Het
Ash1l T A 3: 89,007,220 V1719E probably benign Het
Chd5 A G 4: 152,377,082 N1284D probably damaging Het
Dennd4a A G 9: 64,871,882 D549G probably benign Het
Dhx32 A G 7: 133,759,525 Y60H probably damaging Het
Fcamr A G 1: 130,803,248 I79M probably damaging Het
Filip1 A G 9: 79,818,943 V798A probably benign Het
Gm13119 A G 4: 144,363,491 D367G probably damaging Het
Ifi208 A C 1: 173,683,251 N324T probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nsl1 T C 1: 191,082,164 probably benign Het
Parp6 T C 9: 59,641,053 I483T probably damaging Het
Serpini2 G A 3: 75,259,545 T135I probably benign Het
Sgsm1 T A 5: 113,255,316 N955I possibly damaging Het
Tenm2 A G 11: 36,024,543 Y2055H probably damaging Het
Tex2 T C 11: 106,568,272 N111D probably damaging Het
Ttc5 T C 14: 50,781,507 E51G possibly damaging Het
Usp47 A T 7: 112,074,503 E334V probably damaging Het
Wdfy4 T C 14: 33,047,290 K2227E probably benign Het
Xkr4 T C 1: 3,216,575 E464G probably damaging Het
Other mutations in Ppp2r5e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Ppp2r5e APN 12 75493439 missense probably damaging 1.00
IGL03402:Ppp2r5e APN 12 75464893 missense probably damaging 0.99
R0129:Ppp2r5e UTSW 12 75462390 missense probably damaging 1.00
R0466:Ppp2r5e UTSW 12 75462442 splice site probably benign
R0894:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1452:Ppp2r5e UTSW 12 75469536 splice site probably benign
R1551:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1614:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1693:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1844:Ppp2r5e UTSW 12 75469766 missense possibly damaging 0.81
R1864:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1908:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1909:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R1933:Ppp2r5e UTSW 12 75469567 missense probably damaging 1.00
R2181:Ppp2r5e UTSW 12 75462324 missense probably benign 0.08
R3084:Ppp2r5e UTSW 12 75468616 missense probably benign 0.23
R4212:Ppp2r5e UTSW 12 75469551 missense probably damaging 1.00
R4213:Ppp2r5e UTSW 12 75469551 missense probably damaging 1.00
R4680:Ppp2r5e UTSW 12 75469759 missense probably damaging 1.00
R4761:Ppp2r5e UTSW 12 75593261 missense possibly damaging 0.92
R5147:Ppp2r5e UTSW 12 75469770 missense probably damaging 0.96
R5262:Ppp2r5e UTSW 12 75593271 missense probably damaging 1.00
R5304:Ppp2r5e UTSW 12 75515685 missense possibly damaging 0.75
R5429:Ppp2r5e UTSW 12 75453763 missense probably damaging 0.99
R5439:Ppp2r5e UTSW 12 75493476 missense probably benign
R7225:Ppp2r5e UTSW 12 75468579 missense probably damaging 0.96
R7453:Ppp2r5e UTSW 12 75462342 missense probably damaging 0.99
R7558:Ppp2r5e UTSW 12 75464992 missense probably damaging 1.00
R8017:Ppp2r5e UTSW 12 75464929 missense probably damaging 1.00
R8019:Ppp2r5e UTSW 12 75464929 missense probably damaging 1.00
Posted On2016-08-02