Incidental Mutation 'R3508:Ppm1l'
ID 267452
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 040664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R3508 (G1)
Quality Score 167
Status Not validated
Chromosome 3
Chromosomal Location 69224251-69468131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69456813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 243 (K243N)
Ref Sequence ENSEMBL: ENSMUSP00000029355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029355]
AlphaFold Q8BHN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000029355
AA Change: K243N

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: K243N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,953,991 (GRCm39) F816L probably benign Het
Adgrl3 C A 5: 81,872,103 (GRCm39) N932K probably damaging Het
Apol8 T C 15: 77,633,643 (GRCm39) E311G probably damaging Het
Atad2b G A 12: 5,000,595 (GRCm39) probably null Het
Carmil1 A G 13: 24,203,659 (GRCm39) probably benign Het
Cdc20b T C 13: 113,217,576 (GRCm39) S332P possibly damaging Het
Cep162 A G 9: 87,114,030 (GRCm39) probably null Het
Cfap54 T A 10: 92,721,286 (GRCm39) S2482C unknown Het
Cnpy1 T C 5: 28,412,365 (GRCm39) E107G probably damaging Het
Crtac1 C T 19: 42,293,180 (GRCm39) V310I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Elmo1 T C 13: 20,789,402 (GRCm39) I706T probably damaging Het
F12 T C 13: 55,568,872 (GRCm39) T297A probably benign Het
Fanci A G 7: 79,083,220 (GRCm39) I736V probably benign Het
Fbn1 T C 2: 125,148,247 (GRCm39) N2667S probably benign Het
Flt4 T C 11: 49,524,941 (GRCm39) S596P probably damaging Het
Fndc1 G A 17: 7,983,940 (GRCm39) R1329* probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
H2-M10.1 T G 17: 36,636,506 (GRCm39) R99S possibly damaging Het
Homer3 T A 8: 70,744,005 (GRCm39) V243D probably benign Het
Hspa14 A G 2: 3,492,045 (GRCm39) S437P probably damaging Het
Inpp1 A T 1: 52,838,550 (GRCm39) I33N probably damaging Het
Ipo5 T A 14: 121,176,956 (GRCm39) Y714N probably damaging Het
Kif27 T C 13: 58,461,026 (GRCm39) E898G possibly damaging Het
Klhdc7b T A 15: 89,271,095 (GRCm39) M1K probably null Het
Krt87 A G 15: 101,386,039 (GRCm39) Y241H probably benign Het
Mfsd4b1 A G 10: 39,878,715 (GRCm39) I394T probably benign Het
Micall1 A G 15: 79,006,965 (GRCm39) D264G probably damaging Het
Mms22l T G 4: 24,586,224 (GRCm39) D905E probably benign Het
Musk A G 4: 58,327,347 (GRCm39) D217G probably damaging Het
Napb T C 2: 148,540,880 (GRCm39) T236A probably benign Het
Nbn T A 4: 15,962,387 (GRCm39) D38E probably damaging Het
Ncaph T C 2: 126,969,113 (GRCm39) N87D probably benign Het
Or4a78 A G 2: 89,497,816 (GRCm39) V138A probably benign Het
Pcdhb13 T A 18: 37,576,204 (GRCm39) V194E probably damaging Het
Pck1 T C 2: 173,000,177 (GRCm39) V536A possibly damaging Het
Pld5 C T 1: 175,821,603 (GRCm39) G188S probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Pnkd A G 1: 74,389,793 (GRCm39) T306A probably benign Het
Ppm1k T C 6: 57,491,975 (GRCm39) E279G probably damaging Het
Ppp1r13b T C 12: 111,838,801 (GRCm39) T26A probably damaging Het
Rtel1 T C 2: 180,964,202 (GRCm39) V67A probably benign Het
Rxfp4 T C 3: 88,559,899 (GRCm39) E184G probably damaging Het
Scp2d1 A G 2: 144,665,918 (GRCm39) I86V probably benign Het
Sec16a G T 2: 26,315,862 (GRCm39) P1718Q probably damaging Het
Sgcg T A 14: 61,459,195 (GRCm39) T245S probably benign Het
Slc18a2 A G 19: 59,261,989 (GRCm39) T215A probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sox17 G T 1: 4,562,378 (GRCm39) P146Q probably damaging Het
Spata31d1e A T 13: 59,890,319 (GRCm39) Y500* probably null Het
Stimate C T 14: 30,594,537 (GRCm39) L217F probably damaging Het
Sybu T A 15: 44,536,478 (GRCm39) E616V probably damaging Het
Tk2 C T 8: 104,957,825 (GRCm39) V174I probably benign Het
Tmc5 G A 7: 118,244,618 (GRCm39) V499I probably benign Het
Tonsl T C 15: 76,523,956 (GRCm39) T15A probably benign Het
Ttll12 A G 15: 83,464,831 (GRCm39) I448T probably damaging Het
Ttn A G 2: 76,584,101 (GRCm39) S22336P probably damaging Het
Ubap1 C A 4: 41,379,163 (GRCm39) H126N probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vmn2r84 T C 10: 130,226,777 (GRCm39) N354D probably damaging Het
Vpreb3 A C 10: 75,785,037 (GRCm39) H45P probably benign Het
Zc3h13 T A 14: 75,546,380 (GRCm39) Y160* probably null 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
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
R6168:Ppm1l UTSW 3 69,456,740 (GRCm39) missense probably damaging 1.00
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'- TTCTGTCTTGCAGGCACAAC -3'
(R):5'- AATCCTTCTCAGGGCTTTGG -3'

Sequencing Primer
(F):5'- CAGGCACAACGTGTTTGATC -3'
(R):5'- TGATCCATGCCTGGCACTGAAG -3'
Posted On 2015-02-18