Incidental Mutation 'R1827:Ppm1e'
ID 206940
Institutional Source Beutler Lab
Gene Symbol Ppm1e
Ensembl Gene ENSMUSG00000046442
Gene Name protein phosphatase 1E (PP2C domain containing)
Synonyms PP2CH, POPX1, B930008A12Rik
MMRRC Submission 039854-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.315) question?
Stock # R1827 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87117732-87249849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87122521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 479 (T479A)
Ref Sequence ENSEMBL: ENSMUSP00000061278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055438]
AlphaFold Q80TL0
Predicted Effect probably damaging
Transcript: ENSMUST00000055438
AA Change: T479A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: T479A

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb G C 7: 131,043,004 (GRCm39) R355T probably damaging Het
Ackr2 C T 9: 121,738,581 (GRCm39) R319C probably benign Het
Acot4 G A 12: 84,088,712 (GRCm39) A187T probably damaging Het
Adgrb2 A C 4: 129,906,350 (GRCm39) Q926P probably damaging Het
Adgrb3 T C 1: 25,571,658 (GRCm39) T420A probably damaging Het
Adra1b A T 11: 43,726,476 (GRCm39) V147E probably damaging Het
Bco1 A G 8: 117,832,498 (GRCm39) Y98C probably damaging Het
Car5a C T 8: 122,650,547 (GRCm39) V166M probably benign Het
Cdh5 T C 8: 104,839,541 (GRCm39) L4P possibly damaging Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cmya5 G A 13: 93,210,956 (GRCm39) T3279I possibly damaging Het
Col4a4 C T 1: 82,517,709 (GRCm39) G105D unknown Het
Cyp2d34 A T 15: 82,500,295 (GRCm39) H481Q probably benign Het
Dhx15 A T 5: 52,327,422 (GRCm39) C307* probably null Het
Dnah9 A G 11: 65,740,887 (GRCm39) Y4100H probably damaging Het
Dock10 T C 1: 80,508,009 (GRCm39) N1647S probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Esyt1 T C 10: 128,352,238 (GRCm39) E763G probably benign Het
Fbh1 G T 2: 11,768,699 (GRCm39) D332E possibly damaging Het
Fndc8 G A 11: 82,790,355 (GRCm39) V275M probably damaging Het
Focad T G 4: 88,147,620 (GRCm39) Y420D probably benign Het
Gml A T 15: 74,688,280 (GRCm39) H62Q probably benign Het
Gpr158 A T 2: 21,832,129 (GRCm39) L1076F probably benign Het
Gpr161 A G 1: 165,134,136 (GRCm39) T133A possibly damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gsg1l A T 7: 125,509,369 (GRCm39) I256K possibly damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hnf1a G A 5: 115,098,254 (GRCm39) A116V probably damaging Het
Hrh4 A T 18: 13,155,261 (GRCm39) T267S probably damaging Het
Igfals A T 17: 25,099,278 (GRCm39) N123I probably benign Het
Iglon5 T A 7: 43,128,545 (GRCm39) T91S probably benign Het
Impg2 A T 16: 56,087,583 (GRCm39) N1134I possibly damaging Het
Incenp A G 19: 9,850,093 (GRCm39) V860A possibly damaging Het
Irf5 A T 6: 29,536,672 (GRCm39) H461L possibly damaging Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kank2 A G 9: 21,706,761 (GRCm39) S86P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnn3 A T 3: 89,428,301 (GRCm39) M176L possibly damaging Het
Mccc1 A T 3: 36,039,150 (GRCm39) I281N probably damaging Het
Mms19 G A 19: 41,942,116 (GRCm39) A584V probably benign Het
Mon2 A T 10: 122,882,216 (GRCm39) D184E probably damaging Het
Mrpl1 T C 5: 96,374,202 (GRCm39) V159A possibly damaging Het
Mtrex C A 13: 113,049,633 (GRCm39) probably null Het
Myo18a C T 11: 77,709,597 (GRCm39) T190I probably benign Het
Myo7a A T 7: 97,725,938 (GRCm39) M1038K probably damaging Het
Myrfl T A 10: 116,668,852 (GRCm39) I304F probably damaging Het
Neo1 G A 9: 58,824,314 (GRCm39) R705* probably null Het
Nfat5 T C 8: 108,093,966 (GRCm39) S736P probably benign Het
Nlrp4c C T 7: 6,068,765 (GRCm39) P222L probably damaging Het
Nmt1 T A 11: 102,955,664 (GRCm39) W481R probably damaging Het
Ntrk3 T A 7: 77,897,049 (GRCm39) I663L probably damaging Het
Nup210l A T 3: 90,061,864 (GRCm39) E681V probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or56b1b A T 7: 108,164,282 (GRCm39) V240D probably benign Het
Pald1 ATGCTGCTGCTGCTGC ATGCTGCTGCTGC 10: 61,191,701 (GRCm39) probably benign Het
Ppp1r7 A G 1: 93,288,518 (GRCm39) E298G probably benign Het
Pramel29 G A 4: 143,936,180 (GRCm39) P27S probably damaging Het
Prkaca T C 8: 84,717,616 (GRCm39) probably null Het
Prss36 A G 7: 127,532,664 (GRCm39) V718A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rrp12 G C 19: 41,868,920 (GRCm39) D519E possibly damaging Het
Rufy4 T C 1: 74,173,279 (GRCm39) L415P probably damaging Het
Ryk T A 9: 102,765,706 (GRCm39) D335E probably benign Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Scin T C 12: 40,118,922 (GRCm39) R625G possibly damaging Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc28a1 T C 7: 80,787,950 (GRCm39) V279A possibly damaging Het
Slc30a8 T A 15: 52,194,953 (GRCm39) probably null Het
Slco6d1 A G 1: 98,348,941 (GRCm39) D4G probably damaging Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Trpm1 G A 7: 63,884,755 (GRCm39) R812H probably damaging Het
Tsga10 T A 1: 37,874,661 (GRCm39) I75F probably damaging Het
Tyms C T 5: 30,267,014 (GRCm39) probably null Het
Ubr4 A G 4: 139,153,008 (GRCm39) probably null Het
Unc45a A G 7: 79,981,488 (GRCm39) V438A possibly damaging Het
Usf2 T C 7: 30,654,765 (GRCm39) D110G probably damaging Het
Vit T C 17: 78,853,875 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,262,497 (GRCm39) M211K probably damaging Het
Vmn2r11 T C 5: 109,199,938 (GRCm39) H505R probably benign Het
Vmn2r77 G A 7: 86,450,821 (GRCm39) A236T probably damaging Het
Xpo1 T C 11: 23,235,155 (GRCm39) M608T probably benign Het
Zfp112 T C 7: 23,824,385 (GRCm39) F116L probably damaging Het
Zfp84 A G 7: 29,476,768 (GRCm39) T487A possibly damaging Het
Zfpl1 A C 19: 6,131,901 (GRCm39) L241R 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
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
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'- GGCTGAGGCTAGTTCTATCAG -3'
(R):5'- GGATGGGACTGAAGACTACCTC -3'

Sequencing Primer
(F):5'- TCTATCAGTGAATGAATCCACTCGC -3'
(R):5'- GGGACTGAAGACTACCTCATTCTG -3'
Posted On 2014-06-23