Incidental Mutation 'IGL01395:Ppm1k'
ID 79384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1k
Ensembl Gene ENSMUSG00000037826
Gene Name protein phosphatase 1K (PP2C domain containing)
Synonyms PP2Cm, 2900063A19Rik, A930026L03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01395
Quality Score
Status
Chromosome 6
Chromosomal Location 57483487-57512453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57490943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 324 (H324R)
Ref Sequence ENSEMBL: ENSMUSP00000041395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042766]
AlphaFold Q8BXN7
Predicted Effect probably benign
Transcript: ENSMUST00000042766
AA Change: H324R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: H324R

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 unknown
Transcript: ENSMUST00000204607
AA Change: H93R
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Ppm1k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ppm1k APN 6 57,501,740 (GRCm39) missense probably benign 0.05
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
R6907:Ppm1k UTSW 6 57,487,755 (GRCm39) missense probably benign 0.01
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
Posted On 2013-11-05