Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Ppargc1b'

217339

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

039965-MU

Accession Numbers

Essential gene?

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

Stock #

R1951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61431207-61533502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61431848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1000 (T1000K)

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: T1000K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: T1000K

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 benign
Transcript: ENSMUST00000075299
AA Change: T984K

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: T984K

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	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
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'- CGACAGCAGATTCAAGTCTTTC -3'
(R):5'- CAGAATGGCCATTGGTGCTG -3'

Sequencing Primer
(F):5'- ACAGCAGATTCAAGTCTTTCTCTCTC -3'
(R):5'- TGTGATAGCGCCCACTACG -3'

Posted On

2014-08-01