Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02688:Ppargc1b'

303642

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: 0.317) question?

Stock #

IGL02688

Quality Score

Status

Chromosome

Chromosomal Location

61431207-61533502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61445314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 181 (S181P)

Ref Sequence

ENSEMBL: ENSMUSP00000069431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063307] [ENSMUST00000075299]

AlphaFold

Q8VHJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063307
AA Change: S181P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: S181P

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

possibly damaging
Transcript: ENSMUST00000075299
AA Change: S165P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: S165P

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	A	8: 41,279,357 (GRCm39)	R583S	probably benign	Het
Bcl9l	C	T	9: 44,416,560 (GRCm39)	T211I	possibly damaging	Het
C6	A	G	15: 4,827,802 (GRCm39)	I724V	probably benign	Het
Cacna2d4	T	A	6: 119,247,710 (GRCm39)		probably null	Het
Casp4	A	G	9: 5,322,844 (GRCm39)	E40G	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Dnah7a	A	C	1: 53,483,631 (GRCm39)	M3382R	possibly damaging	Het
Dst	T	C	1: 34,235,033 (GRCm39)	L3526P	probably damaging	Het
Eya4	A	G	10: 23,035,008 (GRCm39)	S116P	probably benign	Het
Gabra4	T	A	5: 71,729,510 (GRCm39)	E423D	probably benign	Het
Ighv1-67	T	G	12: 115,567,643 (GRCm39)	T90P	probably damaging	Het
Kcnh8	A	G	17: 53,266,471 (GRCm39)	T828A	probably benign	Het
Nr5a2	A	G	1: 136,868,145 (GRCm39)		probably null	Het
Nup214	C	T	2: 31,921,287 (GRCm39)	P1237S	probably benign	Het
Phactr3	A	G	2: 177,920,792 (GRCm39)	D215G	probably damaging	Het
Phf2	G	T	13: 48,959,315 (GRCm39)	P897Q	unknown	Het
Pla2r1	T	C	2: 60,285,545 (GRCm39)	R690G	probably damaging	Het
Sele	A	T	1: 163,877,699 (GRCm39)	I165F	probably damaging	Het
Srcap	T	C	7: 127,141,625 (GRCm39)	S1626P	probably benign	Het
Tenm2	A	G	11: 35,959,285 (GRCm39)	I1088T	probably benign	Het
Tnrc18	T	C	5: 142,775,927 (GRCm39)	S69G	probably damaging	Het
Trmt5	C	A	12: 73,328,232 (GRCm39)	E324*	probably null	Het
Ttll3	T	C	6: 113,376,700 (GRCm39)	I360T	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het

Other mutations in Ppargc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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