Incidental Mutation 'IGL00941:Ppm1k'
ID27645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1k
Ensembl Gene ENSMUSG00000037826
Gene Nameprotein phosphatase 1K (PP2C domain containing)
SynonymsA930026L03Rik, 2900063A19Rik, PP2Cm
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00941
Quality Score
Status
Chromosome6
Chromosomal Location57506502-57535468 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57524755 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 141 (H141L)
Ref Sequence ENSEMBL: ENSMUSP00000041395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042766]
Predicted Effect probably benign
Transcript: ENSMUST00000042766
AA Change: H141L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: H141L

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 noncoding transcript
Transcript: ENSMUST00000204686
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,317,130 I521S probably damaging Het
Ace A T 11: 105,979,550 K265I probably benign Het
Acss3 A G 10: 107,053,326 probably null Het
Aldh3a2 A G 11: 61,262,256 Y215H probably damaging Het
Clk2 A G 3: 89,175,422 M393V probably damaging Het
Cyc1 A G 15: 76,345,165 I242V probably benign Het
Evpl G A 11: 116,227,901 L657F probably benign Het
Fbxw10 G A 11: 62,873,501 V675M probably damaging Het
Fgf21 A G 7: 45,615,173 V45A probably damaging Het
Gm5134 T C 10: 76,000,421 I412T possibly damaging Het
Gnat3 T C 5: 18,003,751 probably benign Het
Hk3 C T 13: 55,014,426 probably null Het
Ifna12 A T 4: 88,603,314 probably benign Het
Ipp A G 4: 116,532,659 M471V possibly damaging Het
Kcnj1 G A 9: 32,396,498 V73I probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Mical2 T C 7: 112,321,445 probably benign Het
Mllt1 A T 17: 56,895,086 S428R probably damaging Het
Sept4 G T 11: 87,589,773 C392F probably damaging Het
Slc26a11 T C 11: 119,379,901 F550L probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Stk36 T A 1: 74,623,934 M588K possibly damaging Het
Ubqln4 G A 3: 88,564,501 A415T probably benign Het
Zfp839 C A 12: 110,860,948 S424R probably damaging Het
Zkscan6 G T 11: 65,814,747 G95W probably damaging Het
Other mutations in Ppm1k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Ppm1k APN 6 57513958 missense probably benign
IGL01923:Ppm1k APN 6 57522828 missense probably benign 0.01
IGL02484:Ppm1k APN 6 57525012 missense possibly damaging 0.59
IGL03149:Ppm1k APN 6 57524774 missense probably damaging 0.99
IGL03340:Ppm1k APN 6 57510726 missense probably damaging 1.00
R1230:Ppm1k UTSW 6 57525074 missense probably benign
R1425:Ppm1k UTSW 6 57524789 missense probably damaging 1.00
R1522:Ppm1k UTSW 6 57525157 missense possibly damaging 0.48
R3508:Ppm1k UTSW 6 57514990 missense probably damaging 0.99
R3751:Ppm1k UTSW 6 57524860 missense probably benign 0.01
R4845:Ppm1k UTSW 6 57522768 nonsense probably null
R4914:Ppm1k UTSW 6 57510777 missense probably damaging 0.99
R4915:Ppm1k UTSW 6 57510777 missense probably damaging 0.99
R4918:Ppm1k UTSW 6 57510777 missense probably damaging 0.99
R5430:Ppm1k UTSW 6 57524886 nonsense probably null
R6907:Ppm1k UTSW 6 57510770 missense probably benign 0.01
R6962:Ppm1k UTSW 6 57515660 missense probably damaging 0.99
R7943:Ppm1k UTSW 6 57524828 missense probably benign 0.14
X0024:Ppm1k UTSW 6 57514010 nonsense probably null
Posted On2013-04-17