Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02183:Ppargc1b'

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

Is this an essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

61298136-61400431 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 61309096 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Ppargc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Ppargc1b	APN	18	61323164	missense	probably damaging	1.00
IGL02160:Ppargc1b	APN	18	61310435	missense	probably damaging	1.00
IGL02176:Ppargc1b	APN	18	61310875	nonsense	probably null
IGL02176:Ppargc1b	APN	18	61310874	missense	probably damaging	1.00
IGL02386:Ppargc1b	APN	18	61323151	missense	probably damaging	1.00
IGL02620:Ppargc1b	APN	18	61298739	missense	probably damaging	1.00
IGL02688:Ppargc1b	APN	18	61312243	missense	possibly damaging	0.94
IGL02801:Ppargc1b	APN	18	61307684	missense	possibly damaging	0.77
IGL02970:Ppargc1b	APN	18	61298766	missense	probably damaging	1.00
R0033:Ppargc1b	UTSW	18	61307694	missense	probably damaging	1.00
R0139:Ppargc1b	UTSW	18	61315963	splice site	probably benign
R0194:Ppargc1b	UTSW	18	61307945	missense	possibly damaging	0.94
R0412:Ppargc1b	UTSW	18	61315861	missense	probably damaging	0.99
R0574:Ppargc1b	UTSW	18	61302739	missense	probably benign	0.34
R0576:Ppargc1b	UTSW	18	61311441	missense	probably damaging	0.98
R1546:Ppargc1b	UTSW	18	61310606	missense	probably damaging	1.00
R1721:Ppargc1b	UTSW	18	61307204	splice site	probably null
R1758:Ppargc1b	UTSW	18	61298786	splice site	probably null
R1951:Ppargc1b	UTSW	18	61298777	missense	possibly damaging	0.55
R2110:Ppargc1b	UTSW	18	61311250	missense	probably benign	0.00
R2112:Ppargc1b	UTSW	18	61311250	missense	probably benign	0.00
R2212:Ppargc1b	UTSW	18	61311220	nonsense	probably null
R2432:Ppargc1b	UTSW	18	61307799	missense	possibly damaging	0.93
R3612:Ppargc1b	UTSW	18	61310556	missense	probably benign	0.07
R3848:Ppargc1b	UTSW	18	61311042	missense	probably damaging	1.00
R3913:Ppargc1b	UTSW	18	61311376	missense	probably damaging	0.99
R4328:Ppargc1b	UTSW	18	61382469	nonsense	probably null
R4502:Ppargc1b	UTSW	18	61302679	missense	probably benign	0.39
R4762:Ppargc1b	UTSW	18	61311257	missense	possibly damaging	0.93
R5032:Ppargc1b	UTSW	18	61307265	missense	probably damaging	1.00
R5111:Ppargc1b	UTSW	18	61310487	missense	probably damaging	1.00
R5119:Ppargc1b	UTSW	18	61307654	missense	probably benign	0.38
R5164:Ppargc1b	UTSW	18	61302644	missense	probably damaging	1.00
R5266:Ppargc1b	UTSW	18	61315805	missense	probably damaging	1.00
R5350:Ppargc1b	UTSW	18	61309063	missense	possibly damaging	0.78
R5478:Ppargc1b	UTSW	18	61307568	missense	probably benign
R5719:Ppargc1b	UTSW	18	61307568	missense	probably benign
R5876:Ppargc1b	UTSW	18	61309093	missense	probably damaging	0.99
R5877:Ppargc1b	UTSW	18	61309093	missense	probably damaging	0.99
R5879:Ppargc1b	UTSW	18	61309093	missense	probably damaging	0.99
R5967:Ppargc1b	UTSW	18	61298766	missense	probably damaging	1.00
R6030:Ppargc1b	UTSW	18	61307934	nonsense	probably null
R6030:Ppargc1b	UTSW	18	61307934	nonsense	probably null
R6135:Ppargc1b	UTSW	18	61315909	missense	probably damaging	0.99
R6533:Ppargc1b	UTSW	18	61307774	missense	possibly damaging	0.93
R6791:Ppargc1b	UTSW	18	61307676	missense	probably damaging	1.00
R6792:Ppargc1b	UTSW	18	61307676	missense	probably damaging	1.00
R7033:Ppargc1b	UTSW	18	61307714	missense	probably damaging	0.96
R7316:Ppargc1b	UTSW	18	61307838	missense	probably damaging	0.97
R7560:Ppargc1b	UTSW	18	61312210	missense	probably damaging	1.00
R8007:Ppargc1b	UTSW	18	61310494	missense	possibly damaging	0.55
R8374:Ppargc1b	UTSW	18	61310493	missense	probably damaging	0.99
R9072:Ppargc1b	UTSW	18	61310659	missense	probably damaging	1.00
R9073:Ppargc1b	UTSW	18	61310659	missense	probably damaging	1.00
R9178:Ppargc1b	UTSW	18	61310922	missense	probably benign	0.06
R9339:Ppargc1b	UTSW	18	61323196	missense	probably damaging	1.00
R9357:Ppargc1b	UTSW	18	61315868	missense	probably damaging	0.99
R9406:Ppargc1b	UTSW	18	61310980

Posted On

2015-04-16