Incidental Mutation 'IGL02970:Ppargc1b'
| ID |
365763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppargc1b
|
| Ensembl Gene |
ENSMUSG00000033871 |
| Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator 1 beta |
| Synonyms |
PGC-1beta/ERRL1, 4631412G21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
IGL02970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61431207-61533502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61431837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1004
(S1004P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063307]
[ENSMUST00000075299]
|
| AlphaFold |
Q8VHJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063307
AA Change: S1004P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: S1004P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
189 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
872 |
N/A |
INTRINSIC |
|
RRM
|
910 |
980 |
8.87e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075299
AA Change: S988P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: S988P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
173 |
N/A |
INTRINSIC |
|
coiled coil region
|
421 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
856 |
N/A |
INTRINSIC |
|
RRM
|
894 |
964 |
8.87e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous inactivation of this gene can lead to postnatal lethality and impaired mitochondrial activity, adaptive thermogenesis, and hepatic function. Homozygotes for a null allele also display a defect in heart rate regulation, reduced body weight and WAT content, and increased energy expenditure. [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 |
|---|
| 1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
| A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
| Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
| Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
| Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
| F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
| Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
| Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
| Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
| Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
| T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly damaging |
Het |
|
| Other mutations in Ppargc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Ppargc1b
|
APN |
18 |
61,456,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Ppargc1b
|
APN |
18 |
61,443,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Ppargc1b
|
APN |
18 |
61,443,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Ppargc1b
|
APN |
18 |
61,443,946 (GRCm39) |
nonsense |
probably null |
|
|
IGL02183:Ppargc1b
|
APN |
18 |
61,442,167 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02386:Ppargc1b
|
APN |
18 |
61,456,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Ppargc1b
|
APN |
18 |
61,431,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Ppargc1b
|
APN |
18 |
61,445,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02801:Ppargc1b
|
APN |
18 |
61,440,755 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0033:Ppargc1b
|
UTSW |
18 |
61,440,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Ppargc1b
|
UTSW |
18 |
61,449,034 (GRCm39) |
splice site |
probably benign |
|
|
R0194:Ppargc1b
|
UTSW |
18 |
61,441,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0412:Ppargc1b
|
UTSW |
18 |
61,448,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0574:Ppargc1b
|
UTSW |
18 |
61,435,810 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0576:Ppargc1b
|
UTSW |
18 |
61,444,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1546:Ppargc1b
|
UTSW |
18 |
61,443,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Ppargc1b
|
UTSW |
18 |
61,440,275 (GRCm39) |
splice site |
probably null |
|
|
R1758:Ppargc1b
|
UTSW |
18 |
61,431,857 (GRCm39) |
splice site |
probably null |
|
|
R1951:Ppargc1b
|
UTSW |
18 |
61,431,848 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2110:Ppargc1b
|
UTSW |
18 |
61,444,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2112:Ppargc1b
|
UTSW |
18 |
61,444,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2212:Ppargc1b
|
UTSW |
18 |
61,444,291 (GRCm39) |
nonsense |
probably null |
|
|
R2432:Ppargc1b
|
UTSW |
18 |
61,440,870 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3612:Ppargc1b
|
UTSW |
18 |
61,443,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3848:Ppargc1b
|
UTSW |
18 |
61,444,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Ppargc1b
|
UTSW |
18 |
61,444,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4328:Ppargc1b
|
UTSW |
18 |
61,515,540 (GRCm39) |
nonsense |
probably null |
|
|
R4502:Ppargc1b
|
UTSW |
18 |
61,435,750 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4762:Ppargc1b
|
UTSW |
18 |
61,444,328 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5032:Ppargc1b
|
UTSW |
18 |
61,440,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5111:Ppargc1b
|
UTSW |
18 |
61,443,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Ppargc1b
|
UTSW |
18 |
61,440,725 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5164:Ppargc1b
|
UTSW |
18 |
61,435,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5266:Ppargc1b
|
UTSW |
18 |
61,448,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Ppargc1b
|
UTSW |
18 |
61,442,134 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5478:Ppargc1b
|
UTSW |
18 |
61,440,639 (GRCm39) |
missense |
probably benign |
|
|
R5719:Ppargc1b
|
UTSW |
18 |
61,440,639 (GRCm39) |
missense |
probably benign |
|
|
R5876:Ppargc1b
|
UTSW |
18 |
61,442,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5877:Ppargc1b
|
UTSW |
18 |
61,442,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5879:Ppargc1b
|
UTSW |
18 |
61,442,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5967:Ppargc1b
|
UTSW |
18 |
61,431,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Ppargc1b
|
UTSW |
18 |
61,441,005 (GRCm39) |
nonsense |
probably null |
|
|
R6030:Ppargc1b
|
UTSW |
18 |
61,441,005 (GRCm39) |
nonsense |
probably null |
|
|
R6135:Ppargc1b
|
UTSW |
18 |
61,448,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6533:Ppargc1b
|
UTSW |
18 |
61,440,845 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6791:Ppargc1b
|
UTSW |
18 |
61,440,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Ppargc1b
|
UTSW |
18 |
61,440,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7033:Ppargc1b
|
UTSW |
18 |
61,440,785 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7316:Ppargc1b
|
UTSW |
18 |
61,440,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7560:Ppargc1b
|
UTSW |
18 |
61,445,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8007:Ppargc1b
|
UTSW |
18 |
61,443,565 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8374:Ppargc1b
|
UTSW |
18 |
61,443,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9072:Ppargc1b
|
UTSW |
18 |
61,443,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Ppargc1b
|
UTSW |
18 |
61,443,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Ppargc1b
|
UTSW |
18 |
61,443,993 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9339:Ppargc1b
|
UTSW |
18 |
61,456,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Ppargc1b
|
UTSW |
18 |
61,448,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9406:Ppargc1b
|
UTSW |
18 |
61,444,051 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2015-12-18 |
Incidental Mutation