Incidental Mutation 'R6791:Ppargc1b'
ID 532615
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 044904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 61431207-61533502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 61440747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 724 (G724W)
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: G724W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: G724W

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 probably damaging
Transcript: ENSMUST00000075299
AA Change: G708W

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: G708W

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T probably benign 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
R6792:Ppargc1b UTSW 18 61,440,747 (GRCm39) missense probably damaging 1.00
R7033:Ppargc1b UTSW 18 61,440,785 (GRCm39) missense probably damaging 0.96
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'- CTTCACCTTCCAGAGCAGTC -3'
(R):5'- TCCATACAAGCCAATGGAGGAG -3'

Sequencing Primer
(F):5'- TTCCAGAGCAGTCTCCAGCAG -3'
(R):5'- AATGGAGGAGGACCCCTTC -3'
Posted On 2018-08-29