Incidental Mutation 'R6907:Ppm1k'
ID 538818
Institutional Source Beutler Lab
Gene Symbol Ppm1k
Ensembl Gene ENSMUSG00000037826
Gene Name protein phosphatase 1K (PP2C domain containing)
Synonyms PP2Cm, 2900063A19Rik, A930026L03Rik
MMRRC Submission 044999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6907 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 57483487-57512453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 57487755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 356 (E356A)
Ref Sequence ENSEMBL: ENSMUSP00000041395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042766]
AlphaFold Q8BXN7
Predicted Effect probably benign
Transcript: ENSMUST00000042766
AA Change: E356A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: E356A

DomainStartEndE-ValueType
PP2Cc 88 344 2.16e-68 SMART
PP2C_SIG 93 346 1.15e-3 SMART
low complexity region 359 368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204607
Meta Mutation Damage Score 0.0621 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit defective amino acid metabolism, increased oxidative stress, and increased mortality when subjected to a high-protein diet while in utero and during postnatal development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,698,793 (GRCm39) I344V probably benign Het
Bmper A T 9: 23,310,868 (GRCm39) Q434L probably damaging Het
Cabyr A G 18: 12,883,969 (GRCm39) Y152C probably benign Het
Cactin G A 10: 81,159,278 (GRCm39) probably null Het
Cadps2 T C 6: 23,599,505 (GRCm39) D238G probably damaging Het
Card10 T C 15: 78,671,671 (GRCm39) T598A possibly damaging Het
Ctr9 C T 7: 110,629,449 (GRCm39) P25L probably damaging Het
Entpd5 T C 12: 84,424,127 (GRCm39) T409A probably benign Het
Exd1 A G 2: 119,363,957 (GRCm39) V137A probably damaging Het
Fcgbp G A 7: 27,784,443 (GRCm39) G168R probably damaging Het
Ift88 A G 14: 57,683,067 (GRCm39) N248S probably benign Het
Kntc1 T A 5: 123,939,888 (GRCm39) Y1561N probably damaging Het
Mef2c A G 13: 83,802,730 (GRCm39) D227G probably benign Het
Myh2 C T 11: 67,084,567 (GRCm39) T1702M probably damaging Het
Myo1e T A 9: 70,234,437 (GRCm39) N263K probably benign Het
Nfe2l1 A G 11: 96,710,636 (GRCm39) L373P probably damaging Het
Nob1 C T 8: 108,142,860 (GRCm39) V274M possibly damaging Het
Ntng2 A G 2: 29,118,218 (GRCm39) C77R probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or10ad1c T C 15: 98,085,649 (GRCm39) N10D probably damaging Het
Or5p55 T C 7: 107,567,459 (GRCm39) L285P probably damaging Het
Pcdh7 T A 5: 57,876,471 (GRCm39) W9R possibly damaging Het
Pcdha1 A G 18: 37,064,124 (GRCm39) T263A probably benign Het
Per3 C T 4: 151,128,015 (GRCm39) probably null Het
Pgbd5 A G 8: 125,107,021 (GRCm39) F265L probably damaging Het
Ptgfr G T 3: 151,540,938 (GRCm39) T190K possibly damaging Het
Sec24a A G 11: 51,603,103 (GRCm39) Y782H probably damaging Het
Setd1b T C 5: 123,301,295 (GRCm39) probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,090,323 (GRCm39) T253I possibly damaging Het
Tcf4 C T 18: 69,785,484 (GRCm39) T207M probably damaging Het
Thada T C 17: 84,700,897 (GRCm39) N1203S probably damaging Het
Tln2 A T 9: 67,304,917 (GRCm39) S5T probably damaging Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Ttbk2 A G 2: 120,655,751 (GRCm39) S38P probably benign Het
Vrk1 G T 12: 106,041,291 (GRCm39) Q395H possibly damaging Het
Vwa3a G T 7: 120,391,804 (GRCm39) probably benign Het
Wdsub1 C T 2: 59,692,028 (GRCm39) V335I possibly damaging Het
Other mutations in Ppm1k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ppm1k APN 6 57,501,740 (GRCm39) missense probably benign 0.05
IGL01395:Ppm1k APN 6 57,490,943 (GRCm39) missense probably benign
IGL01923:Ppm1k APN 6 57,499,813 (GRCm39) missense probably benign 0.01
IGL02484:Ppm1k APN 6 57,501,997 (GRCm39) missense possibly damaging 0.59
IGL03149:Ppm1k APN 6 57,501,759 (GRCm39) missense probably damaging 0.99
IGL03340:Ppm1k APN 6 57,487,711 (GRCm39) missense probably damaging 1.00
R1230:Ppm1k UTSW 6 57,502,059 (GRCm39) missense probably benign
R1425:Ppm1k UTSW 6 57,501,774 (GRCm39) missense probably damaging 1.00
R1522:Ppm1k UTSW 6 57,502,142 (GRCm39) missense possibly damaging 0.48
R3508:Ppm1k UTSW 6 57,491,975 (GRCm39) missense probably damaging 0.99
R3751:Ppm1k UTSW 6 57,501,845 (GRCm39) missense probably benign 0.01
R4845:Ppm1k UTSW 6 57,499,753 (GRCm39) nonsense probably null
R4914:Ppm1k UTSW 6 57,487,762 (GRCm39) missense probably damaging 0.99
R4915:Ppm1k UTSW 6 57,487,762 (GRCm39) missense probably damaging 0.99
R4918:Ppm1k UTSW 6 57,487,762 (GRCm39) missense probably damaging 0.99
R5430:Ppm1k UTSW 6 57,501,871 (GRCm39) nonsense probably null
R6962:Ppm1k UTSW 6 57,492,645 (GRCm39) missense probably damaging 0.99
R7943:Ppm1k UTSW 6 57,501,813 (GRCm39) missense probably benign 0.14
R8834:Ppm1k UTSW 6 57,502,023 (GRCm39) missense probably benign 0.01
R9461:Ppm1k UTSW 6 57,487,720 (GRCm39) missense probably damaging 1.00
R9606:Ppm1k UTSW 6 57,491,057 (GRCm39) missense possibly damaging 0.72
R9684:Ppm1k UTSW 6 57,487,762 (GRCm39) missense probably damaging 0.99
R9711:Ppm1k UTSW 6 57,492,720 (GRCm39) missense probably damaging 1.00
X0024:Ppm1k UTSW 6 57,490,995 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGCAGTTGACCATAATGATG -3'
(R):5'- TAGAACCAGTTGGCCTTCCAG -3'

Sequencing Primer
(F):5'- TGAAAATACTACTGGGTATGTGGC -3'
(R):5'- CCAGTTGGCCTTCCAGAGAAAG -3'
Posted On 2018-11-06