Incidental Mutation 'R6170:Ppargc1a'
ID |
490373 |
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 |
044431-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.856)
|
Stock # |
R6170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 51631253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 459
(A459S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031059]
[ENSMUST00000132734]
[ENSMUST00000151104]
[ENSMUST00000196968]
|
AlphaFold |
O70343 |
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 damaging
Transcript: ENSMUST00000132734
AA Change: A459S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117040 Gene: ENSMUSG00000029167 AA Change: A459S
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 damaging
Transcript: ENSMUST00000196968
AA Change: A459S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143553 Gene: ENSMUSG00000029167 AA Change: A459S
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: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
96% (68/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
A |
6: 72,325,555 (GRCm39) |
S90R |
probably benign |
Het |
4930523C07Rik |
C |
A |
1: 159,902,743 (GRCm39) |
N4K |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,528,645 (GRCm39) |
S1167P |
probably damaging |
Het |
Akr1e1 |
T |
C |
13: 4,652,723 (GRCm39) |
D94G |
possibly damaging |
Het |
Anln |
T |
C |
9: 22,279,793 (GRCm39) |
N466D |
probably benign |
Het |
Atp9b |
T |
A |
18: 80,920,562 (GRCm39) |
I231L |
probably benign |
Het |
Bpifb3 |
T |
A |
2: 153,761,557 (GRCm39) |
M2K |
unknown |
Het |
Btbd3 |
T |
C |
2: 138,120,862 (GRCm39) |
L12P |
probably damaging |
Het |
Btnl6 |
T |
A |
17: 34,734,480 (GRCm39) |
Y94F |
probably damaging |
Het |
Cab39 |
T |
A |
1: 85,746,176 (GRCm39) |
L19* |
probably null |
Het |
Cacna2d2 |
A |
G |
9: 107,404,533 (GRCm39) |
D1114G |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,776,216 (GRCm39) |
|
probably null |
Het |
Cdh11 |
A |
G |
8: 103,361,442 (GRCm39) |
V632A |
probably benign |
Het |
Cemip |
T |
G |
7: 83,596,438 (GRCm39) |
T1109P |
possibly damaging |
Het |
Col7a1 |
C |
A |
9: 108,795,511 (GRCm39) |
P1522Q |
unknown |
Het |
Colgalt1 |
C |
T |
8: 72,074,514 (GRCm39) |
L409F |
probably damaging |
Het |
Crtc2 |
A |
G |
3: 90,166,907 (GRCm39) |
M125V |
probably benign |
Het |
Cyp2b19 |
T |
G |
7: 26,458,519 (GRCm39) |
M78R |
possibly damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,643 (GRCm39) |
D308A |
possibly damaging |
Het |
D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
Ddah1 |
A |
G |
3: 145,597,261 (GRCm39) |
D166G |
probably benign |
Het |
Dmtn |
T |
C |
14: 70,854,795 (GRCm39) |
D60G |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,469,043 (GRCm39) |
D607V |
probably damaging |
Het |
Ebf1 |
T |
A |
11: 44,774,712 (GRCm39) |
N236K |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,093,689 (GRCm39) |
T600A |
probably benign |
Het |
Fbxo33 |
T |
C |
12: 59,251,435 (GRCm39) |
N360S |
probably benign |
Het |
Fbxw5 |
A |
G |
2: 25,393,615 (GRCm39) |
D72G |
possibly damaging |
Het |
Fhad1 |
T |
A |
4: 141,618,263 (GRCm39) |
K1388* |
probably null |
Het |
Fzd7 |
A |
G |
1: 59,523,004 (GRCm39) |
M296V |
probably benign |
Het |
Gdpd3 |
T |
C |
7: 126,370,336 (GRCm39) |
I257T |
probably benign |
Het |
Glt28d2 |
T |
G |
3: 85,779,248 (GRCm39) |
D75A |
possibly damaging |
Het |
Gm14295 |
G |
A |
2: 176,502,937 (GRCm39) |
|
probably benign |
Het |
Gm28729 |
A |
G |
9: 96,401,494 (GRCm39) |
I98T |
probably damaging |
Het |
Gm4924 |
C |
T |
10: 82,213,065 (GRCm39) |
Q288* |
probably null |
Het |
Gpr150 |
T |
C |
13: 76,204,676 (GRCm39) |
M90V |
probably damaging |
Het |
Ireb2 |
G |
A |
9: 54,794,656 (GRCm39) |
V331I |
probably benign |
Het |
Lpcat2b |
A |
T |
5: 107,581,760 (GRCm39) |
Y363F |
probably benign |
Het |
Me2 |
T |
C |
18: 73,918,852 (GRCm39) |
I410V |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,537 (GRCm39) |
E58G |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,523,671 (GRCm39) |
D603V |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,046,905 (GRCm39) |
Y1149F |
probably damaging |
Het |
Nrg1 |
A |
G |
8: 32,308,508 (GRCm39) |
Y503H |
probably damaging |
Het |
Nxpe4 |
C |
T |
9: 48,304,104 (GRCm39) |
P64S |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,349,811 (GRCm39) |
T219S |
unknown |
Het |
Plagl1 |
T |
C |
10: 13,002,975 (GRCm39) |
L81P |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,311,042 (GRCm39) |
V481A |
possibly damaging |
Het |
Polq |
A |
G |
16: 36,866,174 (GRCm39) |
Q457R |
possibly damaging |
Het |
Potefam1 |
A |
G |
2: 111,058,293 (GRCm39) |
Y167H |
probably benign |
Het |
Ppp1r13l |
A |
G |
7: 19,104,362 (GRCm39) |
D253G |
probably benign |
Het |
Prl2c2 |
T |
A |
13: 13,176,757 (GRCm39) |
N55Y |
probably damaging |
Het |
Prlr |
T |
C |
15: 10,328,935 (GRCm39) |
F470S |
probably benign |
Het |
Serpina12 |
T |
C |
12: 104,004,500 (GRCm39) |
D44G |
probably benign |
Het |
Sfxn1 |
T |
G |
13: 54,260,526 (GRCm39) |
S291R |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,388,446 (GRCm39) |
D224G |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,784,392 (GRCm39) |
F123S |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,849,345 (GRCm39) |
V937A |
probably benign |
Het |
Stox2 |
T |
A |
8: 47,645,055 (GRCm39) |
M802L |
probably benign |
Het |
Tmem150a |
G |
A |
6: 72,333,728 (GRCm39) |
R30H |
probably benign |
Het |
Tmem210 |
G |
A |
2: 25,178,776 (GRCm39) |
|
probably null |
Het |
Tor3a |
T |
C |
1: 156,484,143 (GRCm39) |
N269S |
possibly damaging |
Het |
Trp63 |
A |
C |
16: 25,703,603 (GRCm39) |
N423T |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,045 (GRCm39) |
I86V |
possibly damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,606,348 (GRCm39) |
I333V |
probably benign |
Het |
Vwa7 |
C |
A |
17: 35,240,186 (GRCm39) |
H385N |
possibly damaging |
Het |
Wdr1 |
T |
C |
5: 38,687,014 (GRCm39) |
|
probably null |
Het |
Wdr31 |
A |
G |
4: 62,381,661 (GRCm39) |
Y57H |
probably damaging |
Het |
Zbtb44 |
T |
A |
9: 30,964,678 (GRCm39) |
H29Q |
probably damaging |
Het |
Zfp532 |
T |
A |
18: 65,757,509 (GRCm39) |
S481T |
probably damaging |
Het |
Zfp955b |
G |
T |
17: 33,521,084 (GRCm39) |
R184S |
probably benign |
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 |
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'- ACAATGAATAGGGCTGCGTGC -3'
(R):5'- TCACAGGAGCTCCAAGACTCTAG -3'
Sequencing Primer
(F):5'- CCAAGGGTAGCTCAGTTTATCAC -3'
(R):5'- TCTAGACAACTAGACTTCAAAGATGC -3'
|
Posted On |
2017-10-10 |