Incidental Mutation 'R7718:Ppargc1a'
ID 595026
Institutional Source Beutler Lab
Gene Symbol Ppargc1a
Ensembl Gene ENSMUSG00000029167
Gene Name peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
Synonyms A830037N07Rik, Pgc-1alphaa, Pgc-1alpha, Pgco1, Pgc1, Gm11133, PPAR Gamma Coactivator-1
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.843) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 51611592-51725068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51655504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 99 (V99M)
Ref Sequence ENSEMBL: ENSMUSP00000117040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031059] [ENSMUST00000127135] [ENSMUST00000132734] [ENSMUST00000151104] [ENSMUST00000196968]
AlphaFold O70343
PDB Structure SF-1 LBD bound by phosphatidylcholine [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000031059
AA Change: V99M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138397
Gene: ENSMUSG00000029167
AA Change: V99M

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
PDB:3D24|D 197 218 1e-7 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000127135
AA Change: V95M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115586
Gene: ENSMUSG00000029167
AA Change: V95M

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132734
AA Change: V99M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: V99M

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
PDB:3D24|D 197 218 4e-7 PDB
low complexity region 294 300 N/A INTRINSIC
low complexity region 558 613 N/A INTRINSIC
low complexity region 615 636 N/A INTRINSIC
RRM 677 746 4.61e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151104
AA Change: V95M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116566
Gene: ENSMUSG00000029167
AA Change: V95M

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
low complexity region 137 143 N/A INTRINSIC
PDB:3D24|D 193 214 1e-7 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000196968
AA Change: V99M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: V99M

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
PDB:3D24|D 197 218 4e-7 PDB
low complexity region 294 300 N/A INTRINSIC
low complexity region 558 613 N/A INTRINSIC
low complexity region 615 636 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: This gene encodes a transcriptional coactivator that induces and coordinates gene expression regulating mitochondrial biogenesis, respiration, hepatic gluconeogenesis, thermogenic program in brown fat and muscle fiber-type switching. Mice lacking the encoded protein exhibit reduced thermogenic capacity, hyperactivity and resistance to diet-induced obesity. Mice lacking the encoded protein specifically in the heart exhibit peripartum cardiomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Ppargc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Ppargc1a APN 5 51,655,373 (GRCm39) splice site probably null
IGL01063:Ppargc1a APN 5 51,631,664 (GRCm39) missense probably benign 0.43
IGL01800:Ppargc1a APN 5 51,652,063 (GRCm39) missense probably damaging 1.00
IGL02179:Ppargc1a APN 5 51,631,053 (GRCm39) missense possibly damaging 0.90
IGL02336:Ppargc1a APN 5 51,653,068 (GRCm39) nonsense probably null
IGL02368:Ppargc1a APN 5 51,631,498 (GRCm39) missense probably benign 0.05
BB007:Ppargc1a UTSW 5 51,630,264 (GRCm39) missense unknown
BB017:Ppargc1a UTSW 5 51,630,264 (GRCm39) missense unknown
R1300:Ppargc1a UTSW 5 51,706,014 (GRCm39) missense probably damaging 1.00
R2048:Ppargc1a UTSW 5 51,705,858 (GRCm39) missense probably damaging 1.00
R2054:Ppargc1a UTSW 5 51,631,130 (GRCm39) missense possibly damaging 0.47
R2211:Ppargc1a UTSW 5 51,631,601 (GRCm39) missense possibly damaging 0.47
R2848:Ppargc1a UTSW 5 51,631,151 (GRCm39) missense probably benign 0.02
R4094:Ppargc1a UTSW 5 51,647,406 (GRCm39) missense possibly damaging 0.47
R4419:Ppargc1a UTSW 5 51,652,044 (GRCm39) missense probably damaging 1.00
R4552:Ppargc1a UTSW 5 51,620,557 (GRCm39) intron probably benign
R4702:Ppargc1a UTSW 5 51,653,038 (GRCm39) missense possibly damaging 0.73
R4855:Ppargc1a UTSW 5 51,631,564 (GRCm39) missense possibly damaging 0.89
R5287:Ppargc1a UTSW 5 51,620,167 (GRCm39) intron probably benign
R5313:Ppargc1a UTSW 5 51,615,581 (GRCm39) utr 3 prime probably benign
R5403:Ppargc1a UTSW 5 51,620,167 (GRCm39) intron probably benign
R5711:Ppargc1a UTSW 5 51,631,562 (GRCm39) missense probably damaging 1.00
R5918:Ppargc1a UTSW 5 51,620,579 (GRCm39) intron probably benign
R5940:Ppargc1a UTSW 5 51,631,253 (GRCm39) missense probably damaging 1.00
R6170:Ppargc1a UTSW 5 51,631,253 (GRCm39) missense probably damaging 1.00
R6415:Ppargc1a UTSW 5 51,620,176 (GRCm39) intron probably benign
R7755:Ppargc1a UTSW 5 51,630,883 (GRCm39) missense unknown
R7793:Ppargc1a UTSW 5 51,619,851 (GRCm39) splice site probably null
R7849:Ppargc1a UTSW 5 51,705,855 (GRCm39) missense probably benign 0.45
R7930:Ppargc1a UTSW 5 51,630,264 (GRCm39) missense unknown
R8169:Ppargc1a UTSW 5 51,631,026 (GRCm39) missense probably benign 0.19
R8497:Ppargc1a UTSW 5 51,647,570 (GRCm39) missense probably damaging 1.00
R8862:Ppargc1a UTSW 5 51,631,235 (GRCm39) missense possibly damaging 0.88
R8907:Ppargc1a UTSW 5 51,647,570 (GRCm39) missense probably damaging 0.99
R9017:Ppargc1a UTSW 5 51,630,251 (GRCm39) missense unknown
R9142:Ppargc1a UTSW 5 51,652,146 (GRCm39) missense possibly damaging 0.86
R9475:Ppargc1a UTSW 5 51,653,080 (GRCm39) missense probably damaging 1.00
R9580:Ppargc1a UTSW 5 51,620,139 (GRCm39) missense unknown
R9655:Ppargc1a UTSW 5 51,705,852 (GRCm39) critical splice donor site probably null
X0019:Ppargc1a UTSW 5 51,706,020 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTACGCCACGGTTATGC -3'
(R):5'- TGGGCACTGAAGATTTCTCATAC -3'

Sequencing Primer
(F):5'- CCACGGTTATGCACTGGGAAG -3'
(R):5'- ATACAGTTTCCTCACCAGCCTGG -3'
Posted On 2019-11-12