Incidental Mutation 'IGL01800:Ppargc1a'
| ID |
155480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.856)
|
| Stock # |
IGL01800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51652063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 212
(Y212H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031059]
[ENSMUST00000127135]
[ENSMUST00000132734]
[ENSMUST00000151104]
[ENSMUST00000196968]
|
| AlphaFold |
O70343 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031059
AA Change: Y212H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138397
Gene: ENSMUSG00000029167
AA Change: Y212H
| 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: Y212H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: Y212H
| 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: Y208H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116566
Gene: ENSMUSG00000029167
AA Change: Y208H
| 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: Y212H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: Y212H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199975
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
| Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
| Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
| Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
| Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
| Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
| Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
| Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
| Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
| Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
| Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
| Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
| Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
| Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation