Incidental Mutation 'R2048:Ppargc1a'
ID 222189
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 040055-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.843) question?
Stock # R2048 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 51611592-51725068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51705858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 75 (F75S)
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 possibly damaging
Transcript: ENSMUST00000031059
AA Change: F75S

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138397
Gene: ENSMUSG00000029167
AA Change: F75S

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: F71S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115586
Gene: ENSMUSG00000029167
AA Change: F71S

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132734
AA Change: F75S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: F75S

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 possibly damaging
Transcript: ENSMUST00000151104
AA Change: F71S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116566
Gene: ENSMUSG00000029167
AA Change: F71S

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: F75S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: F75S

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
Meta Mutation Damage Score 0.5119 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A G 9: 70,647,357 (GRCm39) D19G possibly damaging Het
Adhfe1 A G 1: 9,633,778 (GRCm39) K342R probably benign Het
Adk A G 14: 21,368,244 (GRCm39) N223S probably damaging Het
Aff4 A G 11: 53,289,212 (GRCm39) S454G probably benign Het
Ahnak T A 19: 8,984,420 (GRCm39) N1901K probably damaging Het
Camsap1 T C 2: 25,819,755 (GRCm39) T1578A probably benign Het
Ccdc63 A C 5: 122,268,350 (GRCm39) probably null Het
Ceacam1 G T 7: 25,176,113 (GRCm39) S27Y probably benign Het
Cit T C 5: 116,024,872 (GRCm39) probably null Het
Cntn4 A G 6: 106,414,825 (GRCm39) probably benign Het
Cyp2d26 A G 15: 82,676,928 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,908,237 (GRCm39) V204E probably damaging Het
Cyp51 G A 5: 4,136,636 (GRCm39) probably benign Het
Dipk1a T C 5: 108,057,886 (GRCm39) D179G probably damaging Het
Epb41l4b T G 4: 57,142,866 (GRCm39) E96D probably benign Het
Epg5 A G 18: 78,067,202 (GRCm39) E2221G probably damaging Het
Fbxo21 T A 5: 118,146,169 (GRCm39) N597K probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fsip1 C A 2: 118,072,197 (GRCm39) E195D probably damaging Het
Gm10152 T C 7: 144,317,049 (GRCm39) F35L unknown Het
Gtpbp6 A C 5: 110,254,931 (GRCm39) V87G probably damaging Het
Hal A G 10: 93,327,002 (GRCm39) T176A probably damaging Het
Il12rb2 G T 6: 67,337,529 (GRCm39) N117K probably benign Het
Kalrn A G 16: 34,072,680 (GRCm39) V734A probably benign Het
Klf7 A G 1: 64,117,913 (GRCm39) V228A possibly damaging Het
Kng1 A G 16: 22,877,354 (GRCm39) Y54C probably damaging Het
Lpcat2 T G 8: 93,596,471 (GRCm39) N169K possibly damaging Het
Magohb A T 6: 131,266,385 (GRCm39) S40R probably damaging Het
Mgam A G 6: 40,633,363 (GRCm39) D186G possibly damaging Het
Mycbp2 A G 14: 103,469,960 (GRCm39) probably null Het
Myh15 A G 16: 48,975,928 (GRCm39) D1332G probably damaging Het
Myh9 G A 15: 77,655,332 (GRCm39) T1208M possibly damaging Het
Ncor2 C T 5: 125,161,996 (GRCm39) R426H unknown Het
Nradd T C 9: 110,450,697 (GRCm39) E160G probably benign Het
Or10u4 G A 10: 129,801,861 (GRCm39) S230L probably damaging Het
Or2a54 T A 6: 43,093,312 (GRCm39) M212K probably benign Het
Otog A T 7: 45,937,063 (GRCm39) T1591S probably damaging Het
Oxsr1 A G 9: 119,076,140 (GRCm39) S389P probably benign Het
Pde3a A G 6: 141,434,732 (GRCm39) probably benign Het
Pi4k2b A T 5: 52,905,773 (GRCm39) I105L probably benign Het
Pilrb1 T C 5: 137,853,153 (GRCm39) R217G possibly damaging Het
Poteg A T 8: 27,946,774 (GRCm39) I159L probably benign Het
Ptk2b T G 14: 66,409,954 (GRCm39) D466A probably benign Het
Ptpn21 A G 12: 98,655,785 (GRCm39) V394A possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shisa3 G A 5: 67,768,651 (GRCm39) E184K possibly damaging Het
Slc4a2 A G 5: 24,636,557 (GRCm39) H283R probably damaging Het
Slc9a3 A G 13: 74,311,860 (GRCm39) S603G probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tbcd G T 11: 121,431,762 (GRCm39) C470F probably damaging Het
Thsd1 A G 8: 22,749,333 (GRCm39) R674G probably benign Het
Zbtb11 T A 16: 55,818,372 (GRCm39) C599S probably damaging Het
Zfp541 A G 7: 15,812,252 (GRCm39) R302G 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
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
R7718:Ppargc1a UTSW 5 51,655,504 (GRCm39) missense probably damaging 1.00
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'- CACACTCTGTAGTCCTTAGCAC -3'
(R):5'- TGCCATTAATAACCGCCGTG -3'

Sequencing Primer
(F):5'- TAGCACTTTAATTCTAAAAAGCCCCG -3'
(R):5'- AATAACCGCCGTGTCTGTC -3'
Posted On 2014-08-25