Incidental Mutation 'R0047:Ppm1m'
ID15984
Institutional Source Beutler Lab
Gene Symbol Ppm1m
Ensembl Gene ENSMUSG00000020253
Gene Nameprotein phosphatase 1M
Synonyms2810423O19Rik, PP2C eta
MMRRC Submission 038341-MU
Accession Numbers

Ncbi RefSeq: NM_026447.4, NM_198931.3; MGI:1915155

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0047 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location106194947-106199746 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 106196696 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 273 (E273*)
Ref Sequence ENSEMBL: ENSMUSP00000117908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076258] [ENSMUST00000140761]
Predicted Effect probably null
Transcript: ENSMUST00000076258
AA Change: E217*
SMART Domains Protein: ENSMUSP00000075607
Gene: ENSMUSG00000020253
AA Change: E217*

DomainStartEndE-ValueType
PP2Cc 14 394 7.38e-44 SMART
PP2C_SIG 50 396 1.51e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000136431
AA Change: E34*
SMART Domains Protein: ENSMUSP00000118165
Gene: ENSMUSG00000020253
AA Change: E34*

DomainStartEndE-ValueType
PP2Cc 2 200 1.93e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000140761
AA Change: E273*
SMART Domains Protein: ENSMUSP00000117908
Gene: ENSMUSG00000020253
AA Change: E273*

DomainStartEndE-ValueType
PP2Cc 60 450 8.04e-45 SMART
PP2C_SIG 106 452 1.51e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152359
Predicted Effect probably benign
Transcript: ENSMUST00000213197
Predicted Effect probably benign
Transcript: ENSMUST00000215742
Meta Mutation Damage Score 0.606 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.8%
  • 20x: 65.9%
Validation Efficiency 95% (110/116)
Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,066,264 T405A probably damaging Het
4932438A13Rik T A 3: 36,908,192 L481M possibly damaging Het
Acer1 A T 17: 56,955,624 D175E possibly damaging Het
Adamts9 G A 6: 92,905,306 probably benign Het
Amigo3 T C 9: 108,054,658 S427P probably benign Het
Arid4a T G 12: 71,075,419 L858W probably damaging Het
Bbox1 A G 2: 110,268,302 F310S probably damaging Het
Bmper T A 9: 23,406,686 C534S probably damaging Het
Cacna1d T G 14: 30,346,790 probably benign Het
Capn12 G A 7: 28,890,387 probably null Het
Chchd1 T C 14: 20,704,163 S48P possibly damaging Het
Cnot7 A G 8: 40,495,921 probably benign Het
Cux1 T C 5: 136,363,253 probably benign Het
Cyp2b19 T A 7: 26,766,826 D351E probably benign Het
Dctn1 G T 6: 83,182,632 G31* probably null Het
Duox1 T A 2: 122,346,641 probably benign Het
Egflam T G 15: 7,253,430 E382A possibly damaging Het
Ext1 T C 15: 53,345,146 N73S probably benign Het
Glg1 A T 8: 111,165,582 M866K probably damaging Het
Gm3333 A G 13: 62,274,471 noncoding transcript Het
Golm1 T A 13: 59,645,100 H197L probably benign Het
Gtse1 A G 15: 85,862,378 K132E probably damaging Het
Gxylt2 A T 6: 100,733,378 probably benign Het
Hrc T A 7: 45,336,689 S421R probably benign Het
Ighg2c T A 12: 113,288,168 probably benign Het
Ihh A G 1: 74,946,591 I245T probably benign Het
Ilf3 T A 9: 21,388,714 M65K possibly damaging Het
Kif9 A G 9: 110,485,038 I33V probably benign Het
Lama1 A T 17: 67,795,186 probably benign Het
Lamb1 T C 12: 31,278,601 I188T possibly damaging Het
Lpp T A 16: 24,661,800 probably benign Het
Mark2 A C 19: 7,283,577 probably benign Het
Mmp3 T C 9: 7,451,910 probably benign Het
Mthfd1l T A 10: 3,978,727 probably benign Het
Mtr A T 13: 12,222,226 S569T probably damaging Het
Myh13 T A 11: 67,367,237 S1752T probably benign Het
Myo5a T A 9: 75,156,207 L565H probably damaging Het
Numa1 A G 7: 102,009,453 K296E probably damaging Het
Olfr1477 A G 19: 13,502,589 E82G probably benign Het
Olfr201 C T 16: 59,269,211 G152D probably damaging Het
Olfr613 A T 7: 103,552,322 Y179F probably damaging Het
Pla2g2c T C 4: 138,743,590 probably benign Het
Pnpla7 A T 2: 25,011,606 E548V probably damaging Het
Ppp2r1b C T 9: 50,861,573 R117* probably null Het
Psg-ps1 A G 7: 17,677,881 noncoding transcript Het
Rabgap1l G A 1: 160,231,789 probably benign Het
Rapgef6 T A 11: 54,546,378 M49K possibly damaging Het
Rnf219 T A 14: 104,503,344 probably null Het
Rtel1 T G 2: 181,323,405 I146M probably damaging Het
Sdr9c7 A T 10: 127,903,672 M219L probably benign Het
Serpinb1a A T 13: 32,850,276 L44Q probably damaging Het
Slc13a4 A G 6: 35,287,362 I190T possibly damaging Het
Slc46a2 A G 4: 59,914,392 L177P probably damaging Het
Slc47a2 C T 11: 61,336,242 V167M possibly damaging Het
Snrnp200 C T 2: 127,234,954 probably benign Het
Snx13 C A 12: 35,101,124 probably benign Het
Snx25 C T 8: 46,041,365 A828T probably damaging Het
Spic A G 10: 88,675,941 L151P probably damaging Het
Sptb G T 12: 76,622,950 Q535K probably damaging Het
Ssu2 G A 6: 112,374,820 H315Y probably damaging Het
Stk32a T C 18: 43,313,378 probably benign Het
Tcaf2 A G 6: 42,629,613 I469T probably benign Het
Tln2 A G 9: 67,240,672 probably benign Het
Top2a T A 11: 98,997,856 I1260L probably benign Het
Treml1 C A 17: 48,364,980 S91* probably null Het
Trmt11 T C 10: 30,535,243 N418S probably benign Het
Ttf1 A G 2: 29,084,655 Y801C probably damaging Het
Usp34 C T 11: 23,464,403 A2782V probably benign Het
Vps4a T C 8: 107,036,701 L29P probably damaging Het
Wdfy3 A G 5: 101,944,033 I480T probably damaging Het
Ywhag A T 5: 135,911,299 V147E probably damaging Het
Other mutations in Ppm1m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Ppm1m APN 9 106199157 missense probably damaging 0.96
IGL02090:Ppm1m APN 9 106196802 critical splice donor site probably null
IGL02644:Ppm1m APN 9 106196883 missense probably damaging 1.00
IGL02691:Ppm1m APN 9 106195369 missense probably damaging 1.00
IGL03094:Ppm1m APN 9 106196411 missense probably damaging 1.00
R0047:Ppm1m UTSW 9 106196696 nonsense probably null
R0361:Ppm1m UTSW 9 106198126 missense probably damaging 1.00
R0452:Ppm1m UTSW 9 106197302 missense probably damaging 1.00
R3053:Ppm1m UTSW 9 106198675 missense probably benign
R4654:Ppm1m UTSW 9 106196402 missense probably damaging 1.00
R5121:Ppm1m UTSW 9 106195805 missense probably benign 0.03
R5450:Ppm1m UTSW 9 106196842 missense probably benign 0.02
R5516:Ppm1m UTSW 9 106197939 missense probably damaging 0.98
R6278:Ppm1m UTSW 9 106197228 missense probably damaging 1.00
R6533:Ppm1m UTSW 9 106196870 unclassified probably benign
R6746:Ppm1m UTSW 9 106198152 nonsense probably null
R7466:Ppm1m UTSW 9 106196157 missense probably damaging 0.99
R7486:Ppm1m UTSW 9 106196611 missense probably damaging 1.00
X0022:Ppm1m UTSW 9 106198122 nonsense probably null
Protein Function and Prediction

Ppm1m encodes PP2C-eta (PP2Cη), a member of the phosphatase 2C family, is proposed to dephosphorylate nuclear protein(s) (1). Ectopic expression of an alternative splice variant of PP2Cη (PP2Cη-2) inhibited TAK1 (transforming-growth-factor-β-activated kinase 1)-induced IL-1–NF-κB signaling pathway by selectively dephosphorylating IKKβ (2).

Expression/Localization

Ppm1m is ubiquitously expressed in the mouse with highest expression in the testis and moderate expression in the lung, kidney, and brain (1). PP2Cη is mainly expressed in cell nuclei; minor staining was observed in the cytosol (1).

References
Posted On2013-01-08
Science WriterAnne Murray