Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Ppargc1a'

715693

Institutional Source

Beutler Lab

Gene Symbol

Ppargc1a

Ensembl Gene

ENSMUSG00000029167

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator 1 alpha

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51454250-51567726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 51495738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 161 (G161C)

Ref Sequence

ENSEMBL: ENSMUSP00000117040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031059] [ENSMUST00000127135] [ENSMUST00000132734] [ENSMUST00000151104] [ENSMUST00000196968]

AlphaFold

O70343

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031059
AA Change: G161C

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

SMART Domains

Protein: ENSMUSP00000138397
Gene: ENSMUSG00000029167
AA Change: G161C

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

probably benign
Transcript: ENSMUST00000127135

SMART Domains

Protein: ENSMUSP00000115586
Gene: ENSMUSG00000029167

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132734
AA Change: G161C

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

SMART Domains

Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: G161C

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 damaging
Transcript: ENSMUST00000151104
AA Change: G157C

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

SMART Domains

Protein: ENSMUSP00000116566
Gene: ENSMUSG00000029167
AA Change: G157C

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 damaging
Transcript: ENSMUST00000196968
AA Change: G161C

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

SMART Domains

Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: G161C

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	probably benign	Het

Other mutations in Ppargc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Ppargc1a	APN	5	51498031	splice site	probably null
IGL01063:Ppargc1a	APN	5	51474322	missense	probably benign	0.43
IGL01800:Ppargc1a	APN	5	51494721	missense	probably damaging	1.00
IGL02179:Ppargc1a	APN	5	51473711	missense	possibly damaging	0.90
IGL02336:Ppargc1a	APN	5	51495726	nonsense	probably null
IGL02368:Ppargc1a	APN	5	51474156	missense	probably benign	0.05
BB007:Ppargc1a	UTSW	5	51472922	missense	unknown
BB017:Ppargc1a	UTSW	5	51472922	missense	unknown
R1300:Ppargc1a	UTSW	5	51548672	missense	probably damaging	1.00
R2048:Ppargc1a	UTSW	5	51548516	missense	probably damaging	1.00
R2054:Ppargc1a	UTSW	5	51473788	missense	possibly damaging	0.47
R2211:Ppargc1a	UTSW	5	51474259	missense	possibly damaging	0.47
R2848:Ppargc1a	UTSW	5	51473809	missense	probably benign	0.02
R4094:Ppargc1a	UTSW	5	51490064	missense	possibly damaging	0.47
R4419:Ppargc1a	UTSW	5	51494702	missense	probably damaging	1.00
R4552:Ppargc1a	UTSW	5	51463215	intron	probably benign
R4702:Ppargc1a	UTSW	5	51495696	missense	possibly damaging	0.73
R4855:Ppargc1a	UTSW	5	51474222	missense	possibly damaging	0.89
R5287:Ppargc1a	UTSW	5	51462825	intron	probably benign
R5313:Ppargc1a	UTSW	5	51458239	utr 3 prime	probably benign
R5403:Ppargc1a	UTSW	5	51462825	intron	probably benign
R5711:Ppargc1a	UTSW	5	51474220	missense	probably damaging	1.00
R5918:Ppargc1a	UTSW	5	51463237	intron	probably benign
R5940:Ppargc1a	UTSW	5	51473911	missense	probably damaging	1.00
R6170:Ppargc1a	UTSW	5	51473911	missense	probably damaging	1.00
R6415:Ppargc1a	UTSW	5	51462834	intron	probably benign
R7718:Ppargc1a	UTSW	5	51498162	missense	probably damaging	1.00
R7755:Ppargc1a	UTSW	5	51473541	missense	unknown
R7793:Ppargc1a	UTSW	5	51462509	splice site	probably null
R7849:Ppargc1a	UTSW	5	51548513	missense	probably benign	0.45
R7930:Ppargc1a	UTSW	5	51472922	missense	unknown
R8169:Ppargc1a	UTSW	5	51473684	missense	probably benign	0.19
R8497:Ppargc1a	UTSW	5	51490228	missense	probably damaging	1.00
R8862:Ppargc1a	UTSW	5	51473893	missense	possibly damaging	0.88
R8907:Ppargc1a	UTSW	5	51490228	missense	probably damaging	0.99
R9017:Ppargc1a	UTSW	5	51472909	missense	unknown
R9142:Ppargc1a	UTSW	5	51494804	missense	possibly damaging	0.86
R9580:Ppargc1a	UTSW	5	51462797	missense	unknown
R9655:Ppargc1a	UTSW	5	51548510	critical splice donor site	probably null
X0019:Ppargc1a	UTSW	5	51548678	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTACAGTGTTTGGAGATGCAC -3'
(R):5'- CACTCTGGGGTAAAGTGTGG -3'

Sequencing Primer
(F):5'- GTATCTGCTTCCCCGCTAGAGG -3'
(R):5'- CACTCTGGGGTAAAGTGTGGTATAG -3'

Posted On

2022-06-15