Incidental Mutation 'R5406:Ppm1l'
ID 426267
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 042976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R5406 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 69224251-69468131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69224927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 10 (S10P)
Ref Sequence ENSEMBL: ENSMUSP00000029355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029355]
AlphaFold Q8BHN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000029355
AA Change: S10P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: S10P

DomainStartEndE-ValueType
PP2Cc 77 349 3.17e-75 SMART
PP2C_SIG 103 351 1.28e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164501
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 (GRCm39) V17D probably damaging Het
Abcb1a C A 5: 8,752,946 (GRCm39) Q566K probably damaging Het
Adam26a A T 8: 44,022,141 (GRCm39) C450S probably damaging Het
Adar C T 3: 89,643,418 (GRCm39) P433L probably damaging Het
Aldh1a2 G T 9: 71,162,403 (GRCm39) A151S possibly damaging Het
Arsk T A 13: 76,242,066 (GRCm39) H69L probably benign Het
Atf6b T A 17: 34,872,771 (GRCm39) Y600* probably null Het
Blk C A 14: 63,618,180 (GRCm39) G242V probably damaging Het
Bmt2 A T 6: 13,677,831 (GRCm39) M1K probably null Het
Catsperg1 G A 7: 28,884,948 (GRCm39) T891M probably damaging Het
Ccdc32 A C 2: 118,852,560 (GRCm39) S131A possibly damaging Het
Cdh8 A G 8: 99,923,002 (GRCm39) V298A probably damaging Het
Cfap54 T A 10: 92,837,720 (GRCm39) Q1060L probably benign Het
Cfap58 G A 19: 48,017,541 (GRCm39) M800I possibly damaging Het
Cntn5 A T 9: 9,833,465 (GRCm39) V362D probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
G2e3 T C 12: 51,419,449 (GRCm39) S699P probably damaging Het
Gbp4 G T 5: 105,267,387 (GRCm39) Q511K possibly damaging Het
Gdap2 T A 3: 100,098,991 (GRCm39) I361N probably damaging Het
Ino80c T A 18: 24,245,819 (GRCm39) H92L probably benign Het
Lipo4 A G 19: 33,480,618 (GRCm39) V250A probably benign Het
Llgl1 C T 11: 60,604,010 (GRCm39) R1055W probably damaging Het
Lrriq3 T C 3: 154,835,138 (GRCm39) probably null Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Ncstn A G 1: 171,899,731 (GRCm39) V317A probably benign Het
Nfxl1 G A 5: 72,713,541 (GRCm39) T134I possibly damaging Het
Nup155 A T 15: 8,183,122 (GRCm39) probably null Het
Nup214 C A 2: 31,892,619 (GRCm39) P680T probably damaging Het
Or6c212 G A 10: 129,558,799 (GRCm39) L205F probably damaging Het
Or7h8 A G 9: 20,124,454 (GRCm39) K270E probably benign Het
Or8b12 A G 9: 37,657,943 (GRCm39) N171S probably benign Het
Or8b9 G A 9: 37,766,515 (GRCm39) V134I probably benign Het
Pkd2 T C 5: 104,628,198 (GRCm39) F424S probably damaging Het
Plb1 A G 5: 32,499,259 (GRCm39) D1074G probably damaging Het
Rnf213 A G 11: 119,331,634 (GRCm39) H2281R probably damaging Het
Rpa2 G T 4: 132,503,559 (GRCm39) A3S probably benign Het
Sardh A G 2: 27,101,096 (GRCm39) V698A possibly damaging Het
Saxo2 A T 7: 82,284,586 (GRCm39) C91S probably benign Het
Slc3a2 T C 19: 8,685,406 (GRCm39) D198G probably damaging Het
Spata31d1d T A 13: 59,876,592 (GRCm39) E314D probably benign Het
Sptlc3 T C 2: 139,388,398 (GRCm39) V130A probably benign Het
Stpg3 C A 2: 25,103,580 (GRCm39) E115* probably null Het
Tbcd T A 11: 121,342,927 (GRCm39) D19E probably benign Het
Xrcc3 T C 12: 111,778,545 (GRCm39) D2G probably damaging 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
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'- AAGGGAAACTGCCATCGTTC -3'
(R):5'- TCAAGTCCTCCAAGACGATCG -3'

Sequencing Primer
(F):5'- GAAACTGCCATCGTTCTGGAC -3'
(R):5'- AGACGATCGTTCTGCATAATCTCGG -3'
Posted On 2016-09-01