Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Ppargc1a'

239363

Institutional Source

Beutler Lab

Gene Symbol

Ppargc1a

Ensembl Gene

ENSMUSG00000029167

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator 1 alpha

Synonyms

A830037N07Rik, Pgc-1alphaa, Pgc-1alpha, Pgco1, Pgc1, Gm11133, PPAR Gamma Coactivator-1

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51611592-51725068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51631601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 343 (S343A)

Ref Sequence

ENSEMBL: ENSMUSP00000117040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031059] [ENSMUST00000132734] [ENSMUST00000151104] [ENSMUST00000196968]

AlphaFold

O70343

PDB Structure

SF-1 LBD bound by phosphatidylcholine [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000031059

SMART Domains

Protein: ENSMUSP00000138397
Gene: ENSMUSG00000029167

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	141	147	N/A	INTRINSIC
PDB:3D24\|D	197	218	1e-7	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132734
AA Change: S343A

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: S343A

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	141	147	N/A	INTRINSIC
PDB:3D24\|D	197	218	4e-7	PDB
low complexity region	294	300	N/A	INTRINSIC
low complexity region	558	613	N/A	INTRINSIC
low complexity region	615	636	N/A	INTRINSIC
RRM	677	746	4.61e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151104

SMART Domains

Protein: ENSMUSP00000116566
Gene: ENSMUSG00000029167

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
low complexity region	137	143	N/A	INTRINSIC
PDB:3D24\|D	193	214	1e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000196968
AA Change: S343A

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: S343A

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	141	147	N/A	INTRINSIC
PDB:3D24\|D	197	218	4e-7	PDB
low complexity region	294	300	N/A	INTRINSIC
low complexity region	558	613	N/A	INTRINSIC
low complexity region	615	636	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transcriptional coactivator that induces and coordinates gene expression regulating mitochondrial biogenesis, respiration, hepatic gluconeogenesis, thermogenic program in brown fat and muscle fiber-type switching. Mice lacking the encoded protein exhibit reduced thermogenic capacity, hyperactivity and resistance to diet-induced obesity. Mice lacking the encoded protein specifically in the heart exhibit peripartum cardiomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,118,171 (GRCm39)	S34P	probably damaging	Het
Adam23	T	A	1: 63,612,288 (GRCm39)		probably benign	Het
Adcy10	A	T	1: 165,345,781 (GRCm39)	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,467,993 (GRCm39)	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,886,451 (GRCm39)	M242K	possibly damaging	Het
Arhgef18	T	C	8: 3,437,680 (GRCm39)	S268P	possibly damaging	Het
Astn1	A	G	1: 158,484,876 (GRCm39)	R4G	probably benign	Het
AU041133	G	A	10: 81,986,755 (GRCm39)	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,288 (GRCm39)	V53A	probably benign	Het
Cdh23	T	C	10: 60,301,783 (GRCm39)	D428G	possibly damaging	Het
Cebpa	T	C	7: 34,819,891 (GRCm39)	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,279 (GRCm39)	M152V	probably null	Het
Cpa4	A	G	6: 30,583,649 (GRCm39)	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,803,634 (GRCm39)	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,518,932 (GRCm39)	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,397,286 (GRCm39)	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Edem3	A	G	1: 151,680,453 (GRCm39)	D526G	possibly damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Etaa1	G	A	11: 17,902,686 (GRCm39)	Q84*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam149a	G	A	8: 45,794,046 (GRCm39)	T674I	probably damaging	Het
Fam98a	A	G	17: 75,845,940 (GRCm39)		probably null	Het
Fat4	A	G	3: 38,945,676 (GRCm39)	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,758,361 (GRCm39)	T529A	probably damaging	Het
Gzf1	C	T	2: 148,526,870 (GRCm39)	A447V	probably damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hic1	T	A	11: 75,060,210 (GRCm39)	R46W	possibly damaging	Het
Id4	T	A	13: 48,415,278 (GRCm39)	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029 (GRCm38)	C271R	probably benign	Het
Ints4	T	C	7: 97,158,957 (GRCm39)	I443T	possibly damaging	Het
Lmln	A	G	16: 32,930,148 (GRCm39)	E535G	probably benign	Het
Lrrtm4	A	G	6: 79,999,623 (GRCm39)	H345R	probably benign	Het
Ltbp3	T	C	19: 5,803,990 (GRCm39)	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Ms4a18	C	A	19: 10,974,669 (GRCm39)	V341L	probably benign	Het
Nbr1	T	C	11: 101,458,090 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,890 (GRCm39)	M914T	probably benign	Het
Notch3	T	A	17: 32,366,952 (GRCm39)	H861L	probably benign	Het
Nup58	A	G	14: 60,470,089 (GRCm39)	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,250,843 (GRCm39)		probably null	Het
Oit3	T	C	10: 59,263,892 (GRCm39)	D414G	probably damaging	Het
Or6c5c	A	T	10: 129,298,809 (GRCm39)	K88M	probably damaging	Het
Or6c6c	A	G	10: 129,541,320 (GRCm39)	H191R	probably benign	Het
Or8k32	T	C	2: 86,368,857 (GRCm39)	Y132C	probably damaging	Het
Or9q2	T	A	19: 13,772,733 (GRCm39)	M81L	probably benign	Het
Pals1	A	T	12: 78,844,022 (GRCm39)	K75N	possibly damaging	Het
Pcbp4	C	A	9: 106,337,933 (GRCm39)	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,356,214 (GRCm39)	D241E	probably damaging	Het
Plcb2	T	C	2: 118,554,015 (GRCm39)	D102G	probably benign	Het
Plekha5	G	A	6: 140,471,587 (GRCm39)	E4K	possibly damaging	Het
Ppwd1	G	A	13: 104,343,650 (GRCm39)	S585L	probably benign	Het
Rarg	T	C	15: 102,147,959 (GRCm39)	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Rp1	A	C	1: 4,418,362 (GRCm39)	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsph3b	T	C	17: 7,209,139 (GRCm39)	S189G	probably benign	Het
Sec31b	A	T	19: 44,511,589 (GRCm39)	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,431,741 (GRCm39)	I641F	probably benign	Het
Slc35f5	A	T	1: 125,507,001 (GRCm39)	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,597,325 (GRCm39)	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,753 (GRCm39)	S432P	probably benign	Het
Spsb3	T	C	17: 25,109,911 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,067,034 (GRCm39)	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,689,645 (GRCm39)	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,465,193 (GRCm39)	C307*	probably null	Het
Trim43b	T	A	9: 88,967,302 (GRCm39)	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,388,403 (GRCm39)	I11T	probably benign	Het
Ylpm1	A	T	12: 85,091,152 (GRCm39)	R1073*	probably null	Het
Zfp524	T	C	7: 5,020,918 (GRCm39)	S149P	probably damaging	Het
Zfp777	T	C	6: 48,020,819 (GRCm39)	I312V	possibly damaging	Het

Other mutations in Ppargc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Ppargc1a	APN	5	51,655,373 (GRCm39)	splice site	probably null
IGL01063:Ppargc1a	APN	5	51,631,664 (GRCm39)	missense	probably benign	0.43
IGL01800:Ppargc1a	APN	5	51,652,063 (GRCm39)	missense	probably damaging	1.00
IGL02179:Ppargc1a	APN	5	51,631,053 (GRCm39)	missense	possibly damaging	0.90
IGL02336:Ppargc1a	APN	5	51,653,068 (GRCm39)	nonsense	probably null
IGL02368:Ppargc1a	APN	5	51,631,498 (GRCm39)	missense	probably benign	0.05
BB007:Ppargc1a	UTSW	5	51,630,264 (GRCm39)	missense	unknown
BB017:Ppargc1a	UTSW	5	51,630,264 (GRCm39)	missense	unknown
R1300:Ppargc1a	UTSW	5	51,706,014 (GRCm39)	missense	probably damaging	1.00
R2048:Ppargc1a	UTSW	5	51,705,858 (GRCm39)	missense	probably damaging	1.00
R2054:Ppargc1a	UTSW	5	51,631,130 (GRCm39)	missense	possibly damaging	0.47
R2848:Ppargc1a	UTSW	5	51,631,151 (GRCm39)	missense	probably benign	0.02
R4094:Ppargc1a	UTSW	5	51,647,406 (GRCm39)	missense	possibly damaging	0.47
R4419:Ppargc1a	UTSW	5	51,652,044 (GRCm39)	missense	probably damaging	1.00
R4552:Ppargc1a	UTSW	5	51,620,557 (GRCm39)	intron	probably benign
R4702:Ppargc1a	UTSW	5	51,653,038 (GRCm39)	missense	possibly damaging	0.73
R4855:Ppargc1a	UTSW	5	51,631,564 (GRCm39)	missense	possibly damaging	0.89
R5287:Ppargc1a	UTSW	5	51,620,167 (GRCm39)	intron	probably benign
R5313:Ppargc1a	UTSW	5	51,615,581 (GRCm39)	utr 3 prime	probably benign
R5403:Ppargc1a	UTSW	5	51,620,167 (GRCm39)	intron	probably benign
R5711:Ppargc1a	UTSW	5	51,631,562 (GRCm39)	missense	probably damaging	1.00
R5918:Ppargc1a	UTSW	5	51,620,579 (GRCm39)	intron	probably benign
R5940:Ppargc1a	UTSW	5	51,631,253 (GRCm39)	missense	probably damaging	1.00
R6170:Ppargc1a	UTSW	5	51,631,253 (GRCm39)	missense	probably damaging	1.00
R6415:Ppargc1a	UTSW	5	51,620,176 (GRCm39)	intron	probably benign
R7718:Ppargc1a	UTSW	5	51,655,504 (GRCm39)	missense	probably damaging	1.00
R7755:Ppargc1a	UTSW	5	51,630,883 (GRCm39)	missense	unknown
R7793:Ppargc1a	UTSW	5	51,619,851 (GRCm39)	splice site	probably null
R7849:Ppargc1a	UTSW	5	51,705,855 (GRCm39)	missense	probably benign	0.45
R7930:Ppargc1a	UTSW	5	51,630,264 (GRCm39)	missense	unknown
R8169:Ppargc1a	UTSW	5	51,631,026 (GRCm39)	missense	probably benign	0.19
R8497:Ppargc1a	UTSW	5	51,647,570 (GRCm39)	missense	probably damaging	1.00
R8862:Ppargc1a	UTSW	5	51,631,235 (GRCm39)	missense	possibly damaging	0.88
R8907:Ppargc1a	UTSW	5	51,647,570 (GRCm39)	missense	probably damaging	0.99
R9017:Ppargc1a	UTSW	5	51,630,251 (GRCm39)	missense	unknown
R9142:Ppargc1a	UTSW	5	51,652,146 (GRCm39)	missense	possibly damaging	0.86
R9475:Ppargc1a	UTSW	5	51,653,080 (GRCm39)	missense	probably damaging	1.00
R9580:Ppargc1a	UTSW	5	51,620,139 (GRCm39)	missense	unknown
R9655:Ppargc1a	UTSW	5	51,705,852 (GRCm39)	critical splice donor site	probably null
X0019:Ppargc1a	UTSW	5	51,706,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGAGTCTTGGAGCTCCTGTG -3'
(R):5'- GTCCTTGAAGAACATTATCTCCATCTC -3'

Sequencing Primer
(F):5'- GGAGCTCCTGTGATATGTTAATGAG -3'
(R):5'- TTTCCCCTCCTACATTTCTTTTTG -3'

Posted On

2014-10-15