Incidental Mutation 'IGL02517:Ppm1g'
ID 296850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1g
Ensembl Gene ENSMUSG00000029147
Gene Name protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform
Synonyms Fin13
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02517
Quality Score
Status
Chromosome 5
Chromosomal Location 31360012-31377889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31365425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 70 (Y70H)
Ref Sequence ENSEMBL: ENSMUSP00000031032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031032] [ENSMUST00000201407] [ENSMUST00000202294]
AlphaFold Q61074
Predicted Effect probably damaging
Transcript: ENSMUST00000031032
AA Change: Y70H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147
AA Change: Y70H

DomainStartEndE-ValueType
PP2Cc 15 500 9.7e-103 SMART
PP2C_SIG 219 502 1.05e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200778
AA Change: Y35H

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200853
Predicted Effect probably benign
Transcript: ENSMUST00000201407
SMART Domains Protein: ENSMUSP00000144556
Gene: ENSMUSG00000029147

DomainStartEndE-ValueType
Blast:PP2Cc 1 155 4e-87 BLAST
low complexity region 156 173 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202294
AA Change: Y70H
SMART Domains Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147
AA Change: Y70H

DomainStartEndE-ValueType
PP2Cc 15 393 6.6e-105 SMART
PP2C_SIG 38 395 3.7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202402
Coding Region Coverage
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 member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display perinatal lethality. Mice heterozygous for a targeted mutation display a decrease in prepulse inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T G 4: 49,380,647 (GRCm39) M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 (GRCm39) C228* probably null Het
Adam24 T C 8: 41,133,218 (GRCm39) S229P probably damaging Het
Alpk3 T C 7: 80,727,643 (GRCm39) S258P probably benign Het
Atad2b A G 12: 5,068,037 (GRCm39) T1012A probably benign Het
Bltp1 A G 3: 37,013,017 (GRCm39) E1899G probably damaging Het
C4b A T 17: 34,953,382 (GRCm39) S1034T probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Chrna4 C T 2: 180,670,926 (GRCm39) V277I probably benign Het
Col3a1 A G 1: 45,364,963 (GRCm39) probably null Het
Dpep2 C T 8: 106,715,388 (GRCm39) V369M probably damaging Het
Eml2 T A 7: 18,940,055 (GRCm39) N815K probably damaging Het
Enpp3 A G 10: 24,685,746 (GRCm39) probably benign Het
Git1 T C 11: 77,390,413 (GRCm39) V86A probably benign Het
Hivep2 C T 10: 14,006,926 (GRCm39) P1175S probably benign Het
Hydin T C 8: 111,293,604 (GRCm39) I3517T probably benign Het
Ift172 T A 5: 31,410,992 (GRCm39) probably null Het
Jmy A G 13: 93,589,316 (GRCm39) I647T probably benign Het
Kifap3 T A 1: 163,653,440 (GRCm39) probably benign Het
Lama3 G A 18: 12,670,915 (GRCm39) probably null Het
Lipa A C 19: 34,471,522 (GRCm39) I351S possibly damaging Het
Ltbp2 G T 12: 84,832,091 (GRCm39) A1631D probably benign Het
Masp2 A G 4: 148,698,477 (GRCm39) I519M probably damaging Het
Mfsd6 A G 1: 52,702,436 (GRCm39) probably benign Het
Numa1 T G 7: 101,661,216 (GRCm39) D1846E probably benign Het
Oog3 A T 4: 143,885,920 (GRCm39) I226K probably damaging Het
Or11h6 A G 14: 50,880,658 (GRCm39) T301A probably benign Het
Or5an6 A T 19: 12,372,265 (GRCm39) I213F probably benign Het
Or8b3b T C 9: 38,584,209 (GRCm39) Y177C probably damaging Het
Or8g53 T G 9: 39,683,800 (GRCm39) T99P probably damaging Het
Or9s13 A T 1: 92,548,183 (GRCm39) Y185F probably benign Het
Pkdcc T C 17: 83,531,295 (GRCm39) S435P probably damaging Het
Prcc C T 3: 87,776,984 (GRCm39) S330N probably damaging Het
Ror2 A T 13: 53,272,876 (GRCm39) L251Q probably damaging Het
Scn11a A G 9: 119,621,464 (GRCm39) L651P probably damaging Het
Skint6 A T 4: 112,805,737 (GRCm39) probably benign Het
Slc23a4 A G 6: 34,931,917 (GRCm39) F186L probably benign Het
Slc30a8 A T 15: 52,198,530 (GRCm39) D325V probably benign Het
Son C T 16: 91,452,099 (GRCm39) T282M possibly damaging Het
Tas2r118 A T 6: 23,969,891 (GRCm39) F57I probably damaging Het
Tcf7l1 A G 6: 72,606,966 (GRCm39) S447P probably benign Het
Thsd1 T A 8: 22,733,454 (GRCm39) V167E probably damaging Het
Tle3 T C 9: 61,322,063 (GRCm39) V696A probably damaging Het
Tmem67 A T 4: 12,069,463 (GRCm39) I405K possibly damaging Het
Tmem71 A C 15: 66,413,466 (GRCm39) V202G probably benign Het
Trim6 T C 7: 103,881,564 (GRCm39) probably benign Het
Trip12 A G 1: 84,721,535 (GRCm39) probably benign Het
Ubr1 A C 2: 120,694,854 (GRCm39) C1693G possibly damaging Het
Ush2a G A 1: 188,648,195 (GRCm39) R4600H probably damaging Het
Vil1 A G 1: 74,465,851 (GRCm39) I547M probably benign Het
Vmn1r219 A T 13: 23,347,266 (GRCm39) I152L probably benign Het
Vmn1r26 A G 6: 57,986,127 (GRCm39) F21L possibly damaging Het
Vmn2r45 T A 7: 8,486,185 (GRCm39) K368* probably null Het
Vmn2r68 C T 7: 84,871,153 (GRCm39) W710* probably null Het
Zfp808 T A 13: 62,321,032 (GRCm39) *754R probably null Het
Zyg11b C T 4: 108,123,515 (GRCm39) E151K probably damaging Het
Other mutations in Ppm1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0843:Ppm1g UTSW 5 31,364,895 (GRCm39) splice site probably benign
R1483:Ppm1g UTSW 5 31,360,465 (GRCm39) missense probably benign 0.45
R1750:Ppm1g UTSW 5 31,363,560 (GRCm39) missense probably damaging 1.00
R5611:Ppm1g UTSW 5 31,363,441 (GRCm39) missense probably damaging 1.00
R5776:Ppm1g UTSW 5 31,362,454 (GRCm39) missense probably benign 0.01
R6274:Ppm1g UTSW 5 31,363,750 (GRCm39) missense probably damaging 0.99
R6450:Ppm1g UTSW 5 31,360,468 (GRCm39) missense probably benign 0.01
R7360:Ppm1g UTSW 5 31,360,621 (GRCm39) missense probably damaging 1.00
R7642:Ppm1g UTSW 5 31,362,447 (GRCm39) nonsense probably null
R8508:Ppm1g UTSW 5 31,361,872 (GRCm39) missense probably damaging 1.00
R8828:Ppm1g UTSW 5 31,365,768 (GRCm39) missense probably benign 0.00
R8905:Ppm1g UTSW 5 31,361,437 (GRCm39) missense probably damaging 1.00
R9720:Ppm1g UTSW 5 31,360,914 (GRCm39) critical splice donor site probably null
Z1176:Ppm1g UTSW 5 31,377,780 (GRCm39) start gained probably benign
Z1177:Ppm1g UTSW 5 31,377,658 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16