Incidental Mutation 'R7033:Ppargc1b'
ID 546490
Institutional Source Beutler Lab
Gene Symbol Ppargc1b
Ensembl Gene ENSMUSG00000033871
Gene Name peroxisome proliferative activated receptor, gamma, coactivator 1 beta
Synonyms PGC-1beta/ERRL1, 4631412G21Rik
MMRRC Submission 045134-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R7033 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 61431207-61533502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61440785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 711 (A711D)
Ref Sequence ENSEMBL: ENSMUSP00000069431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063307] [ENSMUST00000075299]
AlphaFold Q8VHJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000063307
AA Change: A711D

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: A711D

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 107 112 N/A INTRINSIC
low complexity region 137 156 N/A INTRINSIC
low complexity region 169 189 N/A INTRINSIC
coiled coil region 437 472 N/A INTRINSIC
low complexity region 613 619 N/A INTRINSIC
low complexity region 640 656 N/A INTRINSIC
low complexity region 799 833 N/A INTRINSIC
low complexity region 852 872 N/A INTRINSIC
RRM 910 980 8.87e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000075299
AA Change: A695D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: A695D

DomainStartEndE-ValueType
low complexity region 91 96 N/A INTRINSIC
low complexity region 121 140 N/A INTRINSIC
low complexity region 153 173 N/A INTRINSIC
coiled coil region 421 456 N/A INTRINSIC
low complexity region 597 603 N/A INTRINSIC
low complexity region 624 640 N/A INTRINSIC
low complexity region 783 817 N/A INTRINSIC
low complexity region 836 856 N/A INTRINSIC
RRM 894 964 8.87e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous inactivation of this gene can lead to postnatal lethality and impaired mitochondrial activity, adaptive thermogenesis, and hepatic function. Homozygotes for a null allele also display a defect in heart rate regulation, reduced body weight and WAT content, and increased energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,819,374 (GRCm39) Y105C probably damaging Het
Acr T C 15: 89,453,703 (GRCm39) S81P probably benign Het
Akr1c14 T C 13: 4,129,178 (GRCm39) probably null Het
Ank2 C A 3: 126,738,499 (GRCm39) E2375* probably null Het
Avpi1 A G 19: 42,113,416 (GRCm39) W14R probably damaging Het
Brd4 A G 17: 32,417,989 (GRCm39) V55A probably benign Het
Casp8ap2 A G 4: 32,639,392 (GRCm39) N149D probably damaging Het
Ccl25 A T 8: 4,399,641 (GRCm39) probably benign Het
Celf5 A G 10: 81,298,548 (GRCm39) L299P probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cfap57 T G 4: 118,470,323 (GRCm39) T186P possibly damaging Het
Chrm4 A G 2: 91,758,692 (GRCm39) M367V probably benign Het
Col1a2 A T 6: 4,516,904 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,528 (GRCm39) P2242L probably damaging Het
Cspg4 T C 9: 56,795,358 (GRCm39) V1031A probably damaging Het
Dbnl C A 11: 5,748,102 (GRCm39) P313T probably benign Het
Dnah1 A G 14: 30,986,882 (GRCm39) F3637L probably damaging Het
Dnah7a A T 1: 53,518,820 (GRCm39) I2979N probably damaging Het
Dusp10 T C 1: 183,769,802 (GRCm39) V256A possibly damaging Het
Dync2i1 T C 12: 116,175,511 (GRCm39) M889V probably benign Het
Erlin2 T C 8: 27,521,792 (GRCm39) V164A probably benign Het
Fam110a T C 2: 151,812,131 (GRCm39) D213G probably damaging Het
Fkbp1a T C 2: 151,399,420 (GRCm39) probably null Het
Foxg1 G A 12: 49,431,503 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,826 (GRCm39) S122G probably benign Het
Gm2042 A T 12: 87,927,051 (GRCm39) D456V probably damaging Het
Grin2b A G 6: 135,900,036 (GRCm39) Y282H probably damaging Het
Gys2 T C 6: 142,418,448 (GRCm39) D27G probably benign Het
H2-DMa T A 17: 34,355,971 (GRCm39) probably null Het
Hectd4 T A 5: 121,502,631 (GRCm39) I4245N possibly damaging Het
Incenp A G 19: 9,870,736 (GRCm39) Y298H unknown Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kifc1 A T 17: 34,102,671 (GRCm39) V314E probably damaging Het
Lurap1l C T 4: 80,829,604 (GRCm39) P5S probably benign Het
Mtmr11 A G 3: 96,077,262 (GRCm39) Y540C probably damaging Het
Muc4 C A 16: 32,576,698 (GRCm39) probably benign Het
Myh13 A G 11: 67,260,142 (GRCm39) E1860G possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nbeal1 G A 1: 60,350,106 (GRCm39) G2385D probably damaging Het
Ncaph2 G A 15: 89,255,559 (GRCm39) A578T probably benign Het
Ncr1 T C 7: 4,341,144 (GRCm39) V8A possibly damaging Het
Nutm1 T C 2: 112,086,513 (GRCm39) T73A probably damaging Het
Olfm1 G A 2: 28,119,348 (GRCm39) D313N probably damaging Het
Or11h4 A G 14: 50,974,164 (GRCm39) F152L possibly damaging Het
Or13f5 A G 4: 52,826,089 (GRCm39) M231V probably benign Het
Or4a66 T A 2: 88,531,164 (GRCm39) N170Y probably damaging Het
Otog T A 7: 45,916,822 (GRCm39) probably null Het
Peak1 G T 9: 56,166,991 (GRCm39) D312E probably damaging Het
Plekhg1 T C 10: 3,890,251 (GRCm39) I331T probably damaging Het
Polr1b T C 2: 128,957,562 (GRCm39) V539A possibly damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Prnd T A 2: 131,795,362 (GRCm39) C161S possibly damaging Het
Prrt4 A G 6: 29,171,147 (GRCm39) L435P possibly damaging Het
Psen2 C T 1: 180,055,085 (GRCm39) probably null Het
Psg23 T C 7: 18,348,669 (GRCm39) E46G possibly damaging Het
Rasgef1b C T 5: 99,380,195 (GRCm39) R350H probably damaging Het
Rfxank G C 8: 70,590,820 (GRCm39) P16A probably benign Het
Sema6a A G 18: 47,381,637 (GRCm39) I944T probably damaging Het
Serpinc1 A G 1: 160,825,091 (GRCm39) T313A probably benign Het
Slc27a4 T C 2: 29,694,283 (GRCm39) S36P possibly damaging Het
Slc36a1 C A 11: 55,114,563 (GRCm39) R214S probably benign Het
Sorl1 C T 9: 41,942,279 (GRCm39) S982N possibly damaging Het
Speer1k G T 5: 11,000,518 (GRCm39) probably null Het
Syt1 A C 10: 108,526,797 (GRCm39) D37E probably benign Het
Tcl1b5 A T 12: 105,142,750 (GRCm39) D26V probably damaging Het
Tenm4 A T 7: 96,544,430 (GRCm39) K2149* probably null Het
Ubc T A 5: 125,465,238 (GRCm39) I30F probably damaging Het
Ugt1a7c A T 1: 88,023,250 (GRCm39) E136D possibly damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,289 (GRCm39) V248I probably damaging Het
Vmn2r105 T C 17: 20,428,874 (GRCm39) H734R probably damaging Het
Xrcc2 T G 5: 25,897,707 (GRCm39) I81L possibly damaging Het
Zfat A C 15: 68,052,864 (GRCm39) I310S probably damaging Het
Zfp119a A G 17: 56,173,009 (GRCm39) V278A probably benign Het
Zfp53 A G 17: 21,720,508 (GRCm39) K33E probably benign Het
Zfp866 G T 8: 70,218,491 (GRCm39) H376Q probably damaging Het
Other mutations in Ppargc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Ppargc1b APN 18 61,456,235 (GRCm39) missense probably damaging 1.00
IGL02160:Ppargc1b APN 18 61,443,506 (GRCm39) missense probably damaging 1.00
IGL02176:Ppargc1b APN 18 61,443,945 (GRCm39) missense probably damaging 1.00
IGL02176:Ppargc1b APN 18 61,443,946 (GRCm39) nonsense probably null
IGL02183:Ppargc1b APN 18 61,442,167 (GRCm39) critical splice acceptor site probably null
IGL02386:Ppargc1b APN 18 61,456,222 (GRCm39) missense probably damaging 1.00
IGL02620:Ppargc1b APN 18 61,431,810 (GRCm39) missense probably damaging 1.00
IGL02688:Ppargc1b APN 18 61,445,314 (GRCm39) missense possibly damaging 0.94
IGL02801:Ppargc1b APN 18 61,440,755 (GRCm39) missense possibly damaging 0.77
IGL02970:Ppargc1b APN 18 61,431,837 (GRCm39) missense probably damaging 1.00
R0033:Ppargc1b UTSW 18 61,440,765 (GRCm39) missense probably damaging 1.00
R0139:Ppargc1b UTSW 18 61,449,034 (GRCm39) splice site probably benign
R0194:Ppargc1b UTSW 18 61,441,016 (GRCm39) missense possibly damaging 0.94
R0412:Ppargc1b UTSW 18 61,448,932 (GRCm39) missense probably damaging 0.99
R0574:Ppargc1b UTSW 18 61,435,810 (GRCm39) missense probably benign 0.34
R0576:Ppargc1b UTSW 18 61,444,512 (GRCm39) missense probably damaging 0.98
R1546:Ppargc1b UTSW 18 61,443,677 (GRCm39) missense probably damaging 1.00
R1721:Ppargc1b UTSW 18 61,440,275 (GRCm39) splice site probably null
R1758:Ppargc1b UTSW 18 61,431,857 (GRCm39) splice site probably null
R1951:Ppargc1b UTSW 18 61,431,848 (GRCm39) missense possibly damaging 0.55
R2110:Ppargc1b UTSW 18 61,444,321 (GRCm39) missense probably benign 0.00
R2112:Ppargc1b UTSW 18 61,444,321 (GRCm39) missense probably benign 0.00
R2212:Ppargc1b UTSW 18 61,444,291 (GRCm39) nonsense probably null
R2432:Ppargc1b UTSW 18 61,440,870 (GRCm39) missense possibly damaging 0.93
R3612:Ppargc1b UTSW 18 61,443,627 (GRCm39) missense probably benign 0.07
R3848:Ppargc1b UTSW 18 61,444,113 (GRCm39) missense probably damaging 1.00
R3913:Ppargc1b UTSW 18 61,444,447 (GRCm39) missense probably damaging 0.99
R4328:Ppargc1b UTSW 18 61,515,540 (GRCm39) nonsense probably null
R4502:Ppargc1b UTSW 18 61,435,750 (GRCm39) missense probably benign 0.39
R4762:Ppargc1b UTSW 18 61,444,328 (GRCm39) missense possibly damaging 0.93
R5032:Ppargc1b UTSW 18 61,440,336 (GRCm39) missense probably damaging 1.00
R5111:Ppargc1b UTSW 18 61,443,558 (GRCm39) missense probably damaging 1.00
R5119:Ppargc1b UTSW 18 61,440,725 (GRCm39) missense probably benign 0.38
R5164:Ppargc1b UTSW 18 61,435,715 (GRCm39) missense probably damaging 1.00
R5266:Ppargc1b UTSW 18 61,448,876 (GRCm39) missense probably damaging 1.00
R5350:Ppargc1b UTSW 18 61,442,134 (GRCm39) missense possibly damaging 0.78
R5478:Ppargc1b UTSW 18 61,440,639 (GRCm39) missense probably benign
R5719:Ppargc1b UTSW 18 61,440,639 (GRCm39) missense probably benign
R5876:Ppargc1b UTSW 18 61,442,164 (GRCm39) missense probably damaging 0.99
R5877:Ppargc1b UTSW 18 61,442,164 (GRCm39) missense probably damaging 0.99
R5879:Ppargc1b UTSW 18 61,442,164 (GRCm39) missense probably damaging 0.99
R5967:Ppargc1b UTSW 18 61,431,837 (GRCm39) missense probably damaging 1.00
R6030:Ppargc1b UTSW 18 61,441,005 (GRCm39) nonsense probably null
R6030:Ppargc1b UTSW 18 61,441,005 (GRCm39) nonsense probably null
R6135:Ppargc1b UTSW 18 61,448,980 (GRCm39) missense probably damaging 0.99
R6533:Ppargc1b UTSW 18 61,440,845 (GRCm39) missense possibly damaging 0.93
R6791:Ppargc1b UTSW 18 61,440,747 (GRCm39) missense probably damaging 1.00
R6792:Ppargc1b UTSW 18 61,440,747 (GRCm39) missense probably damaging 1.00
R7316:Ppargc1b UTSW 18 61,440,909 (GRCm39) missense probably damaging 0.97
R7560:Ppargc1b UTSW 18 61,445,281 (GRCm39) missense probably damaging 1.00
R8007:Ppargc1b UTSW 18 61,443,565 (GRCm39) missense possibly damaging 0.55
R8374:Ppargc1b UTSW 18 61,443,564 (GRCm39) missense probably damaging 0.99
R9072:Ppargc1b UTSW 18 61,443,730 (GRCm39) missense probably damaging 1.00
R9073:Ppargc1b UTSW 18 61,443,730 (GRCm39) missense probably damaging 1.00
R9178:Ppargc1b UTSW 18 61,443,993 (GRCm39) missense probably benign 0.06
R9339:Ppargc1b UTSW 18 61,456,267 (GRCm39) missense probably damaging 1.00
R9357:Ppargc1b UTSW 18 61,448,939 (GRCm39) missense probably damaging 0.99
R9406:Ppargc1b UTSW 18 61,444,051 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- ACGGATCTCATGGTCTCTTAGC -3'
(R):5'- TCCATACAAGCCAATGGAGGAG -3'

Sequencing Primer
(F):5'- ATGGTCTCTTAGCTGCATGC -3'
(R):5'- AATGGAGGAGGACCCCTTC -3'
Posted On 2019-05-13