Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Ppargc1b'

585080

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

045626-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61431207-61533502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61445281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 192 (G192W)

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: G192W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: G192W

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 damaging
Transcript: ENSMUST00000075299
AA Change: G176W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: G176W

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,745,851 (GRCm39)	D446A		Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Clock	A	T	5: 76,390,738 (GRCm39)		probably null	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,872,697 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,948,458 (GRCm39)	L363V	probably damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Shoc1	T	C	4: 59,076,140 (GRCm39)	N601S	possibly damaging	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	probably 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
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
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'- AGGAACTGGGATTCTGGCTC -3'
(R):5'- CCCTTGGGTGACTGACTGTATG -3'

Sequencing Primer
(F):5'- TAGGGACCCAGGTTACTTC -3'
(R):5'- CTGACTGTATGAACAATGAGGTAGC -3'

Posted On

2019-10-17