Incidental Mutation 'R6168:Ppm1l'
ID 490238
Institutional Source Beutler Lab
Gene Symbol Ppm1l
Ensembl Gene ENSMUSG00000027784
Gene Name protein phosphatase 1 (formerly 2C)-like
Synonyms Pp2ce, 5930404J21Rik, PP2C-epsilon
MMRRC Submission 044430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R6168 (G1)
Quality Score 195.009
Status Not validated
Chromosome 3
Chromosomal Location 69224251-69468131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69456740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 219 (D219G)
Ref Sequence ENSEMBL: ENSMUSP00000029355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029355]
AlphaFold Q8BHN0
Predicted Effect probably damaging
Transcript: ENSMUST00000029355
AA Change: D219G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: D219G

DomainStartEndE-ValueType
PP2Cc 77 349 3.17e-75 SMART
PP2C_SIG 103 351 1.28e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134037
SMART Domains Protein: ENSMUSP00000120467
Gene: ENSMUSG00000027784

DomainStartEndE-ValueType
PP2Cc 3 106 6.3e-2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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 is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a null allele show increased body weight and total fat mass, higher blood pressure and plasma glucose levels, lower free fatty acid levels and improved glucose tolerance. Homozygotes for another null allele show postnatal lethality, motor deficits and altered forebrain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,571,827 (GRCm39) L568F possibly damaging Het
Adam3 A T 8: 25,171,630 (GRCm39) probably null Het
Adamts13 G T 2: 26,894,898 (GRCm39) A1069S probably benign Het
Adarb1 A G 10: 77,158,153 (GRCm39) L98P probably damaging Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Alox12b T A 11: 69,060,460 (GRCm39) I672N probably damaging Het
Ark2n A G 18: 77,761,653 (GRCm39) S220P probably damaging Het
Ash1l C T 3: 88,960,080 (GRCm39) R2271* probably null Het
Atf7ip A G 6: 136,536,817 (GRCm39) T17A probably damaging Het
Col6a5 A G 9: 105,752,986 (GRCm39) probably null Het
Crcp A G 5: 130,066,737 (GRCm39) N41S probably damaging Het
Defb15 A C 8: 22,420,069 (GRCm39) N19K possibly damaging Het
Dnah7a T A 1: 53,450,727 (GRCm39) D3901V probably damaging Het
Dnah7b A C 1: 46,329,863 (GRCm39) T3236P probably damaging Het
Dnmbp A G 19: 43,838,679 (GRCm39) S608P probably damaging Het
Efcab12 T C 6: 115,791,577 (GRCm39) K532E probably damaging Het
Fbrsl1 C T 5: 110,543,922 (GRCm39) V54M probably damaging Het
Gm14496 T A 2: 181,642,750 (GRCm39) V807E probably damaging Het
Hoxa2 A G 6: 52,140,461 (GRCm39) L175P probably damaging Het
Igkv4-58 A C 6: 69,477,281 (GRCm39) D105E probably damaging Het
Igkv8-27 A T 6: 70,148,880 (GRCm39) S91R probably benign Het
Itgax T C 7: 127,732,269 (GRCm39) V175A probably damaging Het
Kcnc2 A G 10: 112,291,661 (GRCm39) D283G probably benign Het
Lepr G A 4: 101,592,789 (GRCm39) G135R probably damaging Het
Mcf2l A G 8: 13,051,823 (GRCm39) S378G probably benign Het
Mta1 T A 12: 113,086,739 (GRCm39) D145E probably damaging Het
Nkd1 T A 8: 89,311,859 (GRCm39) N44K probably damaging Het
Notch2 A G 3: 98,052,533 (GRCm39) K2010E probably damaging Het
Nsd3 G A 8: 26,181,188 (GRCm39) G930S probably null Het
Or2w1 T G 13: 21,317,399 (GRCm39) I151M possibly damaging Het
Or6c203 A G 10: 129,010,035 (GRCm39) F285S probably damaging Het
Or8g35 A G 9: 39,381,953 (GRCm39) L23P probably damaging Het
Or8k3 T G 2: 86,058,938 (GRCm39) I126L probably damaging Het
Or8u8 T C 2: 86,012,309 (GRCm39) I49V probably damaging Het
Pde4c G A 8: 71,202,688 (GRCm39) E625K probably benign Het
Pdgfb T C 15: 79,884,587 (GRCm39) T151A probably benign Het
Pik3r5 T C 11: 68,383,501 (GRCm39) V440A probably benign Het
Piwil2 T C 14: 70,632,800 (GRCm39) T591A probably benign Het
Psmc6 T C 14: 45,581,140 (GRCm39) I312T probably damaging Het
Rasl10a T C 11: 5,008,442 (GRCm39) V46A possibly damaging Het
Rhov T C 2: 119,101,453 (GRCm39) Y51C probably damaging Het
S100a16 C T 3: 90,449,879 (GRCm39) Q121* probably null Het
Slc5a12 T C 2: 110,447,089 (GRCm39) V199A probably damaging Het
Slc6a7 A T 18: 61,134,734 (GRCm39) M447K probably benign Het
Tarbp1 A G 8: 127,175,144 (GRCm39) V764A possibly damaging Het
Vmn1r197 T C 13: 22,512,678 (GRCm39) Y200H possibly damaging Het
Vmn2r102 G A 17: 19,914,402 (GRCm39) A656T possibly damaging Het
Vmn2r49 G T 7: 9,718,713 (GRCm39) D450E probably benign Het
Wdr7 T A 18: 63,911,048 (GRCm39) N813K probably damaging Het
Yeats2 T C 16: 19,998,308 (GRCm39) S288P probably benign Het
Zfta T C 19: 7,400,305 (GRCm39) V257A probably benign Het
Zswim6 G A 13: 107,924,299 (GRCm39) noncoding transcript Het
Other mutations in Ppm1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Ppm1l APN 3 69,225,283 (GRCm39) missense probably damaging 1.00
IGL02834:Ppm1l APN 3 69,456,676 (GRCm39) missense probably damaging 1.00
R0270:Ppm1l UTSW 3 69,225,309 (GRCm39) splice site probably benign
R0310:Ppm1l UTSW 3 69,456,794 (GRCm39) missense probably benign 0.39
R0557:Ppm1l UTSW 3 69,405,234 (GRCm39) missense probably benign 0.39
R1577:Ppm1l UTSW 3 69,460,403 (GRCm39) missense probably damaging 1.00
R3508:Ppm1l UTSW 3 69,456,813 (GRCm39) missense possibly damaging 0.81
R4750:Ppm1l UTSW 3 69,456,661 (GRCm39) missense probably damaging 0.99
R4864:Ppm1l UTSW 3 69,449,844 (GRCm39) intron probably benign
R5007:Ppm1l UTSW 3 69,224,931 (GRCm39) missense probably damaging 1.00
R5406:Ppm1l UTSW 3 69,224,927 (GRCm39) missense possibly damaging 0.66
R6256:Ppm1l UTSW 3 69,405,230 (GRCm39) missense probably benign
R6474:Ppm1l UTSW 3 69,460,374 (GRCm39) missense probably damaging 0.99
R6517:Ppm1l UTSW 3 69,224,916 (GRCm39) missense probably damaging 0.98
R6949:Ppm1l UTSW 3 69,456,736 (GRCm39) missense possibly damaging 0.90
R7029:Ppm1l UTSW 3 69,460,399 (GRCm39) missense probably benign 0.16
R7086:Ppm1l UTSW 3 69,225,186 (GRCm39) missense probably damaging 1.00
R7312:Ppm1l UTSW 3 69,225,044 (GRCm39) missense probably benign 0.03
R9225:Ppm1l UTSW 3 69,460,244 (GRCm39) missense probably benign 0.13
R9329:Ppm1l UTSW 3 69,460,453 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGAAGCTTCTCTGGCAAG -3'
(R):5'- CACTATGTGATTGCTGCGTG -3'

Sequencing Primer
(F):5'- TCTGGCAAGAGAGGCTCTAAG -3'
(R):5'- CGTGAAATTTGCTCCCGAG -3'
Posted On 2017-10-10