Mutagenetix > Incidental Mutation

Incidental Mutation 'R9655:Ppargc1a'

735449

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R9655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51611592-51725068 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 51705852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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

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 null
Transcript: ENSMUST00000132734

SMART Domains

Protein: ENSMUSP00000117040
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	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

SMART Domains

Protein: ENSMUSP00000143553
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	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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,695 (GRCm39)	I174F	possibly damaging	Het
Ada	C	A	2: 163,574,270 (GRCm39)	V129F	probably damaging	Het
Adgrl4	G	T	3: 151,248,450 (GRCm39)	M707I	probably damaging	Het
Ahcyl	A	T	16: 45,974,564 (GRCm39)	I271N	probably damaging	Het
Arrb2	A	G	11: 70,331,073 (GRCm39)	Q419R	probably null	Het
Atad2	A	T	15: 57,998,303 (GRCm39)	L23Q	probably damaging	Het
Btbd2	A	T	10: 80,492,045 (GRCm39)	F107Y	probably benign	Het
C7	T	A	15: 5,041,464 (GRCm39)	T481S	probably damaging	Het
Capn10	T	A	1: 92,867,111 (GRCm39)	W114R	probably damaging	Het
Ccdc121	C	T	5: 31,644,976 (GRCm39)	T243I	probably benign	Het
Cdc16	T	A	8: 13,809,153 (GRCm39)	D39E	possibly damaging	Het
Cfap74	A	T	4: 155,522,665 (GRCm39)	I684F		Het
Cyp2c70	T	A	19: 40,149,121 (GRCm39)	N342Y	possibly damaging	Het
Dnah17	G	A	11: 117,971,649 (GRCm39)	T2128I	possibly damaging	Het
Dnah5	A	G	15: 28,242,900 (GRCm39)	N545S	probably benign	Het
Dnmt3c	A	G	2: 153,561,914 (GRCm39)	N539S	probably damaging	Het
Elfn1	A	G	5: 139,958,964 (GRCm39)	E656G	possibly damaging	Het
Exd1	A	T	2: 119,350,855 (GRCm39)	C469S	probably damaging	Het
F5	A	T	1: 164,021,730 (GRCm39)	I1402F	probably benign	Het
Fam186a	A	G	15: 99,840,973 (GRCm39)	L1757P	probably damaging	Het
Fbxo42	A	T	4: 140,895,171 (GRCm39)	R45W	probably damaging	Het
Fer1l5	T	C	1: 36,460,696 (GRCm39)	V1978A	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Fry	A	T	5: 150,362,251 (GRCm39)	D2173V	possibly damaging	Het
Gabbr2	G	T	4: 46,815,684 (GRCm39)	T228K	possibly damaging	Het
Galnt9	A	T	5: 110,762,104 (GRCm39)	Y414F	probably damaging	Het
Gask1a	T	A	9: 121,794,170 (GRCm39)	L108Q	probably benign	Het
Ggt5	A	T	10: 75,444,635 (GRCm39)	M318L	probably benign	Het
Glod4	A	C	11: 76,125,292 (GRCm39)	S156A	probably benign	Het
Gm5431	A	T	11: 48,785,799 (GRCm39)	M192K	probably benign	Het
Golga5	C	T	12: 102,446,008 (GRCm39)	S421L	possibly damaging	Het
Gpr18	T	C	14: 122,149,992 (GRCm39)	D11G	probably benign	Het
Igf2bp3	C	T	6: 49,064,338 (GRCm39)	V560I	probably benign	Het
Igfals	A	G	17: 25,099,665 (GRCm39)	N252S	probably damaging	Het
Ighv8-5	C	T	12: 115,031,416 (GRCm39)	C41Y	probably damaging	Het
Iqgap3	T	A	3: 88,016,728 (GRCm39)	V1070D	possibly damaging	Het
Kdr	G	A	5: 76,122,488 (GRCm39)	A479V	probably benign	Het
Kidins220	T	C	12: 25,047,295 (GRCm39)	L247P	probably damaging	Het
Kmt5a	A	G	5: 124,589,393 (GRCm39)	Y197C	probably damaging	Het
Krt33a	A	C	11: 99,906,624 (GRCm39)		probably null	Het
Mageb3	A	G	2: 121,785,649 (GRCm39)	S18P	unknown	Het
Mast1	T	A	8: 85,650,660 (GRCm39)	Y387F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Med17	C	T	9: 15,176,719 (GRCm39)	V503M	possibly damaging	Het
Mpp3	A	G	11: 101,899,481 (GRCm39)	C347R	probably benign	Het
Mtr	A	G	13: 12,203,030 (GRCm39)	L1191P	probably damaging	Het
Mybphl	A	T	3: 108,282,099 (GRCm39)	I110F	probably damaging	Het
Nkx2-1	T	A	12: 56,581,802 (GRCm39)	D15V	probably damaging	Het
Nwd2	G	A	5: 63,964,568 (GRCm39)	W1384*	probably null	Het
Onecut1	A	G	9: 74,770,330 (GRCm39)	H251R	possibly damaging	Het
Or10ak8	T	A	4: 118,773,804 (GRCm39)	N287Y	probably damaging	Het
Or13f5	C	T	4: 52,825,526 (GRCm39)	T43I	probably benign	Het
Or51a6	A	G	7: 102,604,319 (GRCm39)	F163S	probably damaging	Het
Or8b37	A	T	9: 37,959,387 (GRCm39)	I290L	probably benign	Het
Palmd	T	C	3: 116,716,840 (GRCm39)	*552W	probably null	Het
Pcdhgb2	A	G	18: 37,823,285 (GRCm39)	E92G	probably damaging	Het
Pcdhgb5	G	T	18: 37,865,122 (GRCm39)	E306*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,655,653 (GRCm39)	L160Q	probably damaging	Het
Phxr2	A	T	10: 98,961,974 (GRCm39)	S29T	unknown	Het
Psmb11	T	C	14: 54,862,965 (GRCm39)	V61A	probably damaging	Het
Ripor2	A	T	13: 24,908,983 (GRCm39)	I1034F	possibly damaging	Het
Rnaset2b	T	A	17: 7,259,134 (GRCm39)	N133K	probably damaging	Het
Rtn4	A	G	11: 29,657,504 (GRCm39)	T553A	probably damaging	Het
Samd9l	T	A	6: 3,373,578 (GRCm39)	T1228S	probably benign	Het
Sdr42e2	A	G	7: 120,430,279 (GRCm39)	T379A	probably benign	Het
Shisal2a	C	A	4: 108,234,616 (GRCm39)	V84L	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Snx31	C	T	15: 36,534,582 (GRCm39)	C197Y	probably damaging	Het
Tbc1d4	A	G	14: 101,744,567 (GRCm39)	V353A	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,610 (GRCm39)	D1004G	possibly damaging	Het
Tex15	T	A	8: 34,066,784 (GRCm39)	Y2071*	probably null	Het
Tnni3k	G	A	3: 154,645,410 (GRCm39)	R492*	probably null	Het
Tns2	A	G	15: 102,012,933 (GRCm39)	H7R	probably benign	Het
Top2a	G	T	11: 98,905,334 (GRCm39)	N369K	probably damaging	Het
Tpbg	A	T	9: 85,726,252 (GRCm39)	T74S	probably damaging	Het
Trpm6	A	G	19: 18,869,466 (GRCm39)	N2018D	probably benign	Het
Trub2	A	T	2: 29,669,833 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,813,305 (GRCm39)	F3324L		Het
Wdr20rt	A	T	12: 65,273,707 (GRCm39)	Q390L	probably benign	Het
Wdr49	T	A	3: 75,240,561 (GRCm39)	D436V	probably damaging	Het
Zfp111	C	T	7: 23,898,543 (GRCm39)	G357D	probably damaging	Het
Zfp668	A	G	7: 127,466,113 (GRCm39)	V357A	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
R2211:Ppargc1a	UTSW	5	51,631,601 (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
X0019:Ppargc1a	UTSW	5	51,706,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACTCTGTAGTCCTTAGCAC -3'
(R):5'- TGCCATTAATAACCGCCGTG -3'

Sequencing Primer
(F):5'- TAGCACTTTAATTCTAAAAAGCCCCG -3'
(R):5'- AATAACCGCCGTGTCTGTC -3'

Posted On

2022-11-14