Incidental Mutation 'R0420:Ppm1e'
ID 37008
Institutional Source Beutler Lab
Gene Symbol Ppm1e
Ensembl Gene ENSMUSG00000046442
Gene Name protein phosphatase 1E (PP2C domain containing)
Synonyms PP2CH, POPX1, B930008A12Rik
MMRRC Submission 038622-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.315) question?
Stock # R0420 (G1)
Quality Score 222
Status Validated
Chromosome 11
Chromosomal Location 87117732-87249849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87131440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 318 (A318T)
Ref Sequence ENSEMBL: ENSMUSP00000061278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055438]
AlphaFold Q80TL0
Predicted Effect probably damaging
Transcript: ENSMUST00000055438
AA Change: A318T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: A318T

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
Meta Mutation Damage Score 0.1239 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.2%
Validation Efficiency 100% (76/76)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,991,050 (GRCm39) V870A probably benign Het
Adam6b A T 12: 113,453,614 (GRCm39) M144L probably benign Het
Adrb2 T A 18: 62,312,610 (GRCm39) I72L possibly damaging Het
Ankrd53 A T 6: 83,740,674 (GRCm39) H99L probably damaging Het
Ap4e1 C T 2: 126,891,280 (GRCm39) T17M probably damaging Het
Arnt T A 3: 95,377,705 (GRCm39) probably benign Het
Atp1a3 C T 7: 24,680,052 (GRCm39) G884E probably benign Het
Atp6v1b1 T C 6: 83,729,826 (GRCm39) probably benign Het
Atp8a2 G T 14: 60,011,193 (GRCm39) T971K probably damaging Het
BC048562 A T 9: 108,323,165 (GRCm39) T167S probably benign Het
Brd9 A G 13: 74,103,592 (GRCm39) M491V probably benign Het
Btnl10 A T 11: 58,814,277 (GRCm39) D319V probably damaging Het
Cadps T A 14: 12,491,800 (GRCm38) R783S probably damaging Het
Ccdc149 A G 5: 52,557,581 (GRCm39) probably benign Het
Ccm2l A T 2: 152,912,782 (GRCm39) D107V probably null Het
Cep192 A G 18: 67,946,964 (GRCm39) E213G possibly damaging Het
Cyp2c37 A C 19: 39,984,238 (GRCm39) N242T probably benign Het
Dnah17 A G 11: 117,930,765 (GRCm39) V3750A probably damaging Het
Ehbp1 T A 11: 22,101,836 (GRCm39) I231L probably benign Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eya4 T C 10: 23,031,861 (GRCm39) N254S possibly damaging Het
Fam184b A G 5: 45,741,854 (GRCm39) S126P probably damaging Het
Fancd2 T C 6: 113,513,940 (GRCm39) L108P probably damaging Het
Fgf12 A T 16: 27,981,281 (GRCm39) M145K possibly damaging Het
Gabbr1 A G 17: 37,357,654 (GRCm39) N23S possibly damaging Het
Ggt1 T A 10: 75,412,047 (GRCm39) probably benign Het
Gm6434 T A 7: 25,581,786 (GRCm39) noncoding transcript Het
Grik4 A T 9: 42,533,392 (GRCm39) L376* probably null Het
Gvin3 T A 7: 106,203,090 (GRCm39) L51F probably damaging Het
Gzf1 A G 2: 148,525,753 (GRCm39) T75A probably benign Het
Hcn1 T C 13: 118,111,911 (GRCm39) I625T unknown Het
Hhat C T 1: 192,235,242 (GRCm39) probably null Het
Ifit1bl1 T C 19: 34,571,914 (GRCm39) E181G probably damaging Het
Kif21a T C 15: 90,852,257 (GRCm39) probably benign Het
Lrrc45 A C 11: 120,606,045 (GRCm39) S118R probably damaging Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Ms4a5 A G 19: 11,261,018 (GRCm39) L47S probably damaging Het
Mynn A T 3: 30,661,608 (GRCm39) N230I probably benign Het
Nck2 T C 1: 43,593,278 (GRCm39) S162P probably damaging Het
Nfat5 T C 8: 108,094,093 (GRCm39) F259S probably damaging Het
Obox1 T G 7: 15,290,178 (GRCm39) S174A possibly damaging Het
Ociad1 T A 5: 73,470,772 (GRCm39) probably null Het
Pgbd1 A T 13: 21,607,336 (GRCm39) V286E possibly damaging Het
Phlpp2 T C 8: 110,666,567 (GRCm39) V1032A probably damaging Het
Prex1 T A 2: 166,431,491 (GRCm39) D757V probably benign Het
Ptpdc1 C A 13: 48,742,595 (GRCm39) probably null Het
Rbbp5 T G 1: 132,421,582 (GRCm39) I94R possibly damaging Het
Rnpc3 A G 3: 113,415,518 (GRCm39) V173A probably benign Het
Sgsm1 A T 5: 113,411,625 (GRCm39) N700K probably benign Het
Slco1a8 T G 6: 141,931,203 (GRCm39) probably benign Het
Sox14 T A 9: 99,757,175 (GRCm39) H188L probably damaging Het
Spmip11 A G 15: 98,468,975 (GRCm39) S17G probably benign Het
Supt5 T A 7: 28,016,754 (GRCm39) probably benign Het
Synpo A G 18: 60,735,490 (GRCm39) S819P probably damaging Het
Tenm2 A G 11: 36,097,951 (GRCm39) probably benign Het
Tenm4 T C 7: 96,522,973 (GRCm39) V1468A possibly damaging Het
Tiam2 A G 17: 3,553,193 (GRCm39) N83S probably benign Het
Tle6 T C 10: 81,431,145 (GRCm39) probably benign Het
Tm2d2 T G 8: 25,508,130 (GRCm39) N91K probably damaging Het
Tmem132d T G 5: 127,941,710 (GRCm39) Q463H probably benign Het
Tmf1 A G 6: 97,153,102 (GRCm39) S324P probably damaging Het
Tnc T C 4: 63,918,396 (GRCm39) T1172A probably benign Het
Usp17lb A T 7: 104,489,746 (GRCm39) C393S probably benign Het
Usp42 G A 5: 143,700,616 (GRCm39) L1136F probably damaging Het
Vmn2r92 T G 17: 18,389,183 (GRCm39) M499R probably benign Het
Vps54 T A 11: 21,261,071 (GRCm39) probably benign Het
Wdr6 C T 9: 108,450,300 (GRCm39) R1076H probably benign Het
Wdr72 T A 9: 74,118,039 (GRCm39) M917K possibly damaging Het
Wee2 T C 6: 40,433,929 (GRCm39) V281A probably benign Het
Zc3h6 A G 2: 128,856,747 (GRCm39) D609G probably benign Het
Zfp345 G A 2: 150,315,163 (GRCm39) H125Y possibly damaging Het
Zhx2 A G 15: 57,685,236 (GRCm39) K202E probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Ppm1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Ppm1e APN 11 87,122,568 (GRCm39) missense probably benign 0.09
IGL02973:Ppm1e APN 11 87,131,488 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TATCAGTGTGCCCCACAGAAGGAG -3'
(R):5'- TGTGTGTAAACACAGATGCCCTAGC -3'

Sequencing Primer
(F):5'- CCACAGAAGGAGTCCTCAAGAG -3'
(R):5'- GCACCAGATCACTTGCATGG -3'
Posted On 2013-05-09