Incidental Mutation 'R8862:Ppargc1a'
ID |
675703 |
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 |
068741-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.843)
|
Stock # |
R8862 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51631235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 465
(F465L)
|
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: F465L
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117040 Gene: ENSMUSG00000029167 AA Change: F465L
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 |
possibly damaging
Transcript: ENSMUST00000196968
AA Change: F465L
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143553 Gene: ENSMUSG00000029167 AA Change: F465L
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,901,172 (GRCm39) |
G685R |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,791,129 (GRCm39) |
F790S |
possibly damaging |
Het |
Alg10b |
T |
C |
15: 90,109,893 (GRCm39) |
Y69H |
probably damaging |
Het |
Amer3 |
A |
T |
1: 34,626,465 (GRCm39) |
S235C |
probably damaging |
Het |
Ankfy1 |
G |
T |
11: 72,644,469 (GRCm39) |
S722I |
probably benign |
Het |
Baz1a |
T |
C |
12: 55,032,624 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
A |
G |
12: 80,804,208 (GRCm39) |
S689P |
unknown |
Het |
Cdh24 |
C |
A |
14: 54,869,874 (GRCm39) |
R681L |
probably damaging |
Het |
Cdk14 |
T |
G |
5: 5,060,862 (GRCm39) |
I338L |
probably benign |
Het |
Clec2m |
T |
C |
6: 129,308,494 (GRCm39) |
T12A |
probably benign |
Het |
Col18a1 |
G |
T |
10: 76,949,044 (GRCm39) |
S156* |
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,348 (GRCm39) |
Y63C |
probably damaging |
Het |
Cytip |
G |
A |
2: 58,037,887 (GRCm39) |
T159M |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,459,502 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
C |
9: 106,855,927 (GRCm39) |
Y744C |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,406,404 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,029,934 (GRCm39) |
D385E |
probably damaging |
Het |
Efhc1 |
A |
C |
1: 21,037,573 (GRCm39) |
D250A |
|
Het |
Epha3 |
T |
A |
16: 63,431,348 (GRCm39) |
T519S |
probably benign |
Het |
Gas2l3 |
A |
G |
10: 89,250,282 (GRCm39) |
Y279H |
probably damaging |
Het |
Gatd3a |
A |
G |
10: 78,005,461 (GRCm39) |
S35P |
probably damaging |
Het |
Gemin6 |
G |
A |
17: 80,535,432 (GRCm39) |
V131I |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gnai2 |
C |
A |
9: 107,512,326 (GRCm39) |
A31S |
|
Het |
Greb1l |
A |
G |
18: 10,555,042 (GRCm39) |
D1696G |
possibly damaging |
Het |
Itfg2 |
T |
C |
6: 128,394,668 (GRCm39) |
E35G |
probably damaging |
Het |
Kctd10 |
A |
G |
5: 114,503,921 (GRCm39) |
F244L |
probably damaging |
Het |
Kif19b |
C |
A |
5: 140,472,534 (GRCm39) |
P686Q |
probably damaging |
Het |
Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
G |
T |
11: 78,860,716 (GRCm39) |
|
probably benign |
Het |
Lrriq4 |
A |
T |
3: 30,705,088 (GRCm39) |
N372I |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,910,574 (GRCm39) |
N248S |
probably damaging |
Het |
Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
Myo1a |
G |
A |
10: 127,548,653 (GRCm39) |
V396M |
probably benign |
Het |
Myod1 |
A |
G |
7: 46,026,487 (GRCm39) |
T131A |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,647,199 (GRCm39) |
D558V |
possibly damaging |
Het |
Odf2l |
T |
A |
3: 144,833,758 (GRCm39) |
|
probably benign |
Het |
Or6d13 |
G |
A |
6: 116,518,186 (GRCm39) |
M257I |
probably benign |
Het |
Plbd2 |
A |
T |
5: 120,624,728 (GRCm39) |
M480K |
probably damaging |
Het |
Ppp1r15b |
A |
T |
1: 133,064,506 (GRCm39) |
I659F |
probably damaging |
Het |
Prune2 |
C |
T |
19: 17,097,510 (GRCm39) |
L1005F |
probably benign |
Het |
Pter |
T |
C |
2: 12,985,341 (GRCm39) |
S224P |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,266,731 (GRCm39) |
I615T |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,191,715 (GRCm39) |
|
probably null |
Het |
Rps2 |
A |
G |
17: 24,940,662 (GRCm39) |
T259A |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
S1pr4 |
G |
A |
10: 81,334,533 (GRCm39) |
R314C |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,891,081 (GRCm39) |
H575Q |
probably benign |
Het |
Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
Sox8 |
A |
T |
17: 25,787,045 (GRCm39) |
H219Q |
possibly damaging |
Het |
Spink2 |
C |
T |
5: 77,357,615 (GRCm39) |
D24N |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,534,099 (GRCm39) |
D3452G |
probably benign |
Het |
Syngr2 |
G |
T |
11: 117,703,507 (GRCm39) |
D108Y |
probably damaging |
Het |
Tardbp |
G |
A |
4: 148,702,755 (GRCm39) |
S403L |
possibly damaging |
Het |
Tomm70a |
T |
C |
16: 56,942,546 (GRCm39) |
S108P |
probably benign |
Het |
Ttc12 |
T |
C |
9: 49,351,515 (GRCm39) |
T661A |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 89,006,824 (GRCm39) |
V66A |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,235,207 (GRCm39) |
L477Q |
probably damaging |
Het |
Vmn1r77 |
T |
A |
7: 11,776,060 (GRCm39) |
C279S |
probably benign |
Het |
Vmn2r79 |
T |
C |
7: 86,645,712 (GRCm39) |
S14P |
probably benign |
Het |
Zan |
T |
C |
5: 137,472,674 (GRCm39) |
T72A |
probably benign |
Het |
Zcchc2 |
A |
G |
1: 105,958,998 (GRCm39) |
*1156W |
probably null |
Het |
Zfp354c |
A |
T |
11: 50,708,718 (GRCm39) |
D26E |
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 |
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 |
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'- TCGAACAATGAATAGGGCTGCG -3'
(R):5'- CAGGAGCTCCAAGACTCTAGAC -3'
Sequencing Primer
(F):5'- ATCCCAAGGGTAGCTCAGTTTATCAC -3'
(R):5'- TCTAGACAACTAGACTTCAAAGATGC -3'
|
Posted On |
2021-07-15 |