Incidental Mutation 'R6949:Ppm1l'
ID 543229
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 045061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R6949 (G1)
Quality Score 209.009
Status Validated
Chromosome 3
Chromosomal Location 69224251-69468131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69456736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 218 (C218S)
Ref Sequence ENSEMBL: ENSMUSP00000029355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029355]
AlphaFold Q8BHN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000029355
AA Change: C218S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: C218S

DomainStartEndE-ValueType
PP2Cc 77 349 3.17e-75 SMART
PP2C_SIG 103 351 1.28e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G T 3: 126,804,533 (GRCm39) D679E probably benign Het
Catsper4 A T 4: 133,953,058 (GRCm39) Y96N probably benign Het
Cnksr3 T C 10: 7,110,757 (GRCm39) I35V probably benign Het
Col16a1 A G 4: 129,953,116 (GRCm39) E424G probably damaging Het
Ctsc G T 7: 87,930,666 (GRCm39) G82W probably damaging Het
Cxcr4 T C 1: 128,517,352 (GRCm39) D101G probably benign Het
Dapk1 T A 13: 60,884,138 (GRCm39) N635K probably benign Het
Dop1a T C 9: 86,382,913 (GRCm39) M282T probably damaging Het
Dpysl4 G A 7: 138,671,915 (GRCm39) E172K probably damaging Het
Efcab3 A C 11: 104,799,896 (GRCm39) T2931P probably damaging Het
Eif2ak3 T C 6: 70,855,829 (GRCm39) I211T probably damaging Het
Fbxw22 A T 9: 109,211,144 (GRCm39) W386R probably benign Het
Garin1b T A 6: 29,323,905 (GRCm39) I210N probably damaging Het
Grm7 A G 6: 110,623,265 (GRCm39) K146R probably benign Het
Grm7 C A 6: 111,472,690 (GRCm39) P843Q probably damaging Het
Gtf2e2 A G 8: 34,248,726 (GRCm39) D171G probably damaging Het
Hyal5 T C 6: 24,876,303 (GRCm39) S59P probably benign Het
Il7r T A 15: 9,508,090 (GRCm39) T411S probably damaging Het
Kcp T A 6: 29,484,611 (GRCm39) probably null Het
Krcc1 T C 6: 71,261,135 (GRCm39) Y56H probably benign Het
Lmo2 T A 2: 103,801,018 (GRCm39) M1K probably null Het
Lrit3 G A 3: 129,582,934 (GRCm39) T351I probably damaging Het
Mcu T G 10: 59,292,566 (GRCm39) T38P possibly damaging Het
Mylk T A 16: 34,820,688 (GRCm39) I89N probably damaging Het
Ncoa2 A T 1: 13,226,725 (GRCm39) C996S possibly damaging Het
Npr2 A G 4: 43,640,597 (GRCm39) E350G probably damaging Het
Or5an1b T C 19: 12,299,792 (GRCm39) Y133C probably damaging Het
Pald1 T C 10: 61,156,996 (GRCm39) E818G probably benign Het
Phf19 G T 2: 34,794,143 (GRCm39) Q210K probably damaging Het
Pomgnt1 G A 4: 116,011,351 (GRCm39) V250M probably damaging Het
Prkdc G A 16: 15,617,853 (GRCm39) R3228H probably benign Het
Pros1 A T 16: 62,744,938 (GRCm39) T518S probably benign Het
Rdh8 T A 9: 20,734,003 (GRCm39) V63D probably benign Het
Rexo1 A G 10: 80,386,470 (GRCm39) V196A possibly damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Scn11a A G 9: 119,594,580 (GRCm39) V1271A probably benign Het
Serac1 C A 17: 6,102,090 (GRCm39) D395Y probably damaging Het
Syne2 A G 12: 76,012,771 (GRCm39) D2655G probably benign Het
Tm4sf19 T C 16: 32,224,676 (GRCm39) V8A probably benign Het
Usp3 A T 9: 66,427,972 (GRCm39) D334E probably benign Het
Uty C T Y: 1,240,000 (GRCm39) probably null Het
Vmn2r7 T C 3: 64,598,542 (GRCm39) N672D probably damaging Het
Vmn2r96 T A 17: 18,818,100 (GRCm39) L751H probably damaging Het
Wnk2 T C 13: 49,254,616 (GRCm39) S300G probably damaging Het
Zp3r G T 1: 130,505,632 (GRCm39) S508R probably benign 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
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
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'- GAGTGAAGCTTCTCTGGCAAG -3'
(R):5'- CACTATGTGATTGCTGCGTG -3'

Sequencing Primer
(F):5'- TCTGGCAAGAGAGGCTCTAAG -3'
(R):5'- CGTGAAATTTGCTCCCGAG -3'
Posted On 2018-11-28