Mutagenetix > Incidental Mutation

Incidental Mutation 'R1721:Ppargc1b'

191512

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

039753-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61431207-61533502 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 61440275 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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (87/88)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,901,995 (GRCm39)	V559E	probably benign	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Adcy5	C	A	16: 35,118,794 (GRCm39)	D1048E	probably damaging	Het
Agrn	A	T	4: 156,259,630 (GRCm39)	C768*	probably null	Het
Aldh18a1	G	T	19: 40,553,282 (GRCm39)	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Asb18	T	G	1: 89,896,302 (GRCm39)	D246A	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Cage1	T	A	13: 38,207,309 (GRCm39)	K285*	probably null	Het
Ccn2	A	C	10: 24,472,695 (GRCm39)	T202P	probably damaging	Het
Cldn17	A	G	16: 88,303,444 (GRCm39)	L95P	probably damaging	Het
Cldn20	A	T	17: 3,583,157 (GRCm39)	D110V	probably damaging	Het
Cnot10	T	C	9: 114,444,067 (GRCm39)	T443A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Col23a1	T	C	11: 51,418,716 (GRCm39)	Y135H	unknown	Het
Cse1l	T	C	2: 166,768,331 (GRCm39)	S210P	probably damaging	Het
Cspg4	T	G	9: 56,796,027 (GRCm39)	V1254G	probably damaging	Het
Dip2c	A	G	13: 9,709,404 (GRCm39)	T1415A	probably damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Epha2	A	G	4: 141,049,963 (GRCm39)	S799G	probably damaging	Het
Fndc10	A	G	4: 155,779,355 (GRCm39)	Y133C	probably damaging	Het
Gli3	G	T	13: 15,900,882 (GRCm39)	S1423I	probably benign	Het
Gm6034	A	T	17: 36,354,045 (GRCm39)		probably benign	Het
Gmip	A	G	8: 70,263,882 (GRCm39)	S109G	probably damaging	Het
Grik2	C	A	10: 49,399,842 (GRCm39)	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Il6	T	A	5: 30,218,490 (GRCm39)	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Itga9	A	G	9: 118,527,374 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,056,345 (GRCm39)	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,540,919 (GRCm39)		probably benign	Het
Knl1	T	G	2: 118,906,815 (GRCm39)	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lox	T	G	18: 52,653,983 (GRCm39)		probably null	Het
Mdc1	A	G	17: 36,158,718 (GRCm39)	D366G	possibly damaging	Het
Meiob	T	C	17: 25,053,021 (GRCm39)	C344R	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mon2	A	T	10: 122,867,002 (GRCm39)	M551K	probably damaging	Het
Mrps15	A	G	4: 125,945,187 (GRCm39)	T125A	probably benign	Het
Mtmr14	A	G	6: 113,230,693 (GRCm39)	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598 (GRCm39)	M1T	probably null	Het
Mup5	G	A	4: 61,750,607 (GRCm39)	R179*	probably null	Het
Ncoa3	T	G	2: 165,911,221 (GRCm39)	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,455,428 (GRCm39)	N429K	probably benign	Het
Nrxn1	C	T	17: 90,469,832 (GRCm39)	A241T	probably damaging	Het
Or1p1	A	T	11: 74,180,126 (GRCm39)	Y218F	probably damaging	Het
Or2t49	C	T	11: 58,392,765 (GRCm39)	V206M	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Peg3	C	A	7: 6,712,900 (GRCm39)	S774I	possibly damaging	Het
Phyh	A	G	2: 4,942,620 (GRCm39)	K321R	probably null	Het
Plcg1	T	A	2: 160,573,840 (GRCm39)	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Prcd	A	C	11: 116,548,371 (GRCm39)	S27R	probably benign	Het
Prx	T	A	7: 27,216,948 (GRCm39)	M622K	probably benign	Het
Psmd1	T	A	1: 85,999,567 (GRCm39)	D51E	probably damaging	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Ptprf	A	C	4: 118,082,096 (GRCm39)	D1047E	possibly damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,377,096 (GRCm39)	N53K	probably benign	Het
Scn4a	C	T	11: 106,211,646 (GRCm39)	R1457H	probably benign	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Shbg	T	C	11: 69,505,798 (GRCm39)	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,049,845 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a16	T	A	7: 44,910,600 (GRCm39)	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Slmap	A	G	14: 26,181,373 (GRCm39)		probably benign	Het
Sorcs2	G	A	5: 36,184,092 (GRCm39)	R965W	probably damaging	Het
St8sia4	C	A	1: 95,581,394 (GRCm39)	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,652,272 (GRCm39)	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,899,072 (GRCm39)	Y676F	probably benign	Het
Tmod2	A	G	9: 75,493,324 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,435,391 (GRCm39)		probably null	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp54	A	T	14: 20,633,508 (GRCm39)	Y37*	probably null	Het
Vill	T	C	9: 118,895,082 (GRCm39)	F100S	probably damaging	Het
Vstm5	A	G	9: 15,168,663 (GRCm39)	R76G	probably benign	Het
Zfp608	T	C	18: 55,032,321 (GRCm39)	T540A	probably benign	Het
Zfp947	A	C	17: 22,365,184 (GRCm39)	N163K	probably benign	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGGGCTTCACTTGCTTCAGATTG -3'
(R):5'- AAAGCACTTTGGGCTGCTGGAGAC -3'

Sequencing Primer
(F):5'- GTCCATGTCTTGGGGAGCC -3'
(R):5'- gaggaggaggaggaagagg -3'

Posted On

2014-05-14