Incidental Mutation 'R3612:Ppargc1b'
| ID |
269277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppargc1b
|
| Ensembl Gene |
ENSMUSG00000033871 |
| Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator 1 beta |
| Synonyms |
PGC-1beta/ERRL1, 4631412G21Rik |
| MMRRC Submission |
040672-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R3612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61431207-61533502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61443627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 528
(N528S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063307]
[ENSMUST00000075299]
|
| AlphaFold |
Q8VHJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063307
AA Change: N528S
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000069431
Gene: ENSMUSG00000033871
AA Change: N528S
| 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 |
probably benign
Transcript: ENSMUST00000075299
AA Change: N512S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000074771
Gene: ENSMUSG00000033871
AA Change: N512S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (31/31) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,251 (GRCm39) |
V192A |
probably damaging |
Het |
| Acsm2 |
G |
C |
7: 119,190,553 (GRCm39) |
V90L |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,308,105 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,290,542 (GRCm39) |
D1630E |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,905,332 (GRCm39) |
I1085N |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,270,256 (GRCm39) |
|
probably benign |
Het |
| Cdh19 |
A |
T |
1: 110,821,026 (GRCm39) |
C571S |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,443 (GRCm39) |
L1491* |
probably null |
Het |
| Cherp |
G |
A |
8: 73,215,840 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,274,893 (GRCm39) |
S188G |
probably null |
Het |
| Ech1 |
C |
T |
7: 28,529,668 (GRCm39) |
R34C |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,499,134 (GRCm39) |
S337P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fah |
A |
G |
7: 84,234,498 (GRCm39) |
V412A |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,473,545 (GRCm39) |
E131D |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,337 (GRCm39) |
V130A |
possibly damaging |
Het |
| Gm4782 |
T |
A |
6: 50,585,610 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,206 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo15a |
G |
C |
11: 60,368,505 (GRCm39) |
D422H |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,961,653 (GRCm39) |
H360Q |
probably damaging |
Het |
| Or1e22 |
T |
C |
11: 73,376,766 (GRCm39) |
R295G |
probably benign |
Het |
| Rprd2 |
G |
A |
3: 95,671,464 (GRCm39) |
P1313L |
probably damaging |
Het |
| Slc12a7 |
C |
A |
13: 73,958,042 (GRCm39) |
D955E |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,758,218 (GRCm39) |
|
probably null |
Het |
| Tex24 |
T |
A |
8: 27,835,201 (GRCm39) |
V243D |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,463 (GRCm39) |
T505A |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,997,977 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,841,492 (GRCm39) |
Y20C |
probably 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 |
|
IGL02970:Ppargc1b
|
APN |
18 |
61,431,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTGGACCACAGAATACCTC -3'
(R):5'- CGGGATGTTAACAAGCCTACAAG -3'
Sequencing Primer
(F):5'- AATACCTCTGGAAGTGGGCTG -3'
(R):5'- CCTACAAGGCAAAAGCGGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation