Incidental Mutation 'IGL02183:Ppargc1b'
ID 284347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppargc1b
Ensembl Gene ENSMUSG00000033871
Gene Name peroxisome proliferative activated receptor, gamma, coactivator 1 beta
Synonyms PGC-1beta/ERRL1, 4631412G21Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # IGL02183
Quality Score
Status
Chromosome 18
Chromosomal Location 61431207-61533502 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 61442167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063307] [ENSMUST00000075299]
AlphaFold Q8VHJ7
Predicted Effect probably null
Transcript: ENSMUST00000063307
SMART Domains Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871

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 null
Transcript: ENSMUST00000075299
SMART Domains Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871

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
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S 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
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
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
Posted On 2015-04-16