Incidental Mutation 'IGL02973:Ppm1e'
ID 365892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1e
Ensembl Gene ENSMUSG00000046442
Gene Name protein phosphatase 1E (PP2C domain containing)
Synonyms PP2CH, POPX1, B930008A12Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # IGL02973
Quality Score
Status
Chromosome 11
Chromosomal Location 87117732-87249849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87131488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 302 (A302S)
Ref Sequence ENSEMBL: ENSMUSP00000061278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055438]
AlphaFold Q80TL0
Predicted Effect probably damaging
Transcript: ENSMUST00000055438
AA Change: A302S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: A302S

DomainStartEndE-ValueType
low complexity region 20 65 N/A INTRINSIC
low complexity region 70 106 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
PP2Cc 216 483 2.26e-71 SMART
PP2C_SIG 243 485 1.01e-2 SMART
low complexity region 506 515 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155154
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Ppm1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Ppm1e APN 11 87,122,568 (GRCm39) missense probably benign 0.09
R0013:Ppm1e UTSW 11 87,139,884 (GRCm39) splice site probably benign
R0013:Ppm1e UTSW 11 87,139,884 (GRCm39) splice site probably benign
R0118:Ppm1e UTSW 11 87,122,564 (GRCm39) missense probably benign 0.19
R0420:Ppm1e UTSW 11 87,131,440 (GRCm39) missense probably damaging 0.98
R1400:Ppm1e UTSW 11 87,122,592 (GRCm39) missense probably damaging 0.98
R1827:Ppm1e UTSW 11 87,122,521 (GRCm39) missense probably damaging 1.00
R1912:Ppm1e UTSW 11 87,135,196 (GRCm39) missense probably benign 0.00
R3778:Ppm1e UTSW 11 87,139,754 (GRCm39) splice site probably null
R4632:Ppm1e UTSW 11 87,122,356 (GRCm39) missense probably damaging 1.00
R5250:Ppm1e UTSW 11 87,121,744 (GRCm39) missense probably benign 0.22
R5288:Ppm1e UTSW 11 87,249,377 (GRCm39) missense possibly damaging 0.96
R5364:Ppm1e UTSW 11 87,128,007 (GRCm39) missense probably benign 0.18
R5384:Ppm1e UTSW 11 87,249,377 (GRCm39) missense possibly damaging 0.96
R5386:Ppm1e UTSW 11 87,249,377 (GRCm39) missense possibly damaging 0.96
R5468:Ppm1e UTSW 11 87,121,716 (GRCm39) missense probably benign 0.00
R8247:Ppm1e UTSW 11 87,122,101 (GRCm39) missense probably benign 0.01
R9550:Ppm1e UTSW 11 87,121,919 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18