Incidental Mutation 'R5535:Ucp3'
| ID |
434771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ucp3
|
| Ensembl Gene |
ENSMUSG00000032942 |
| Gene Name |
uncoupling protein 3 (mitochondrial, proton carrier) |
| Synonyms |
Slc25a9, UCP-3 |
| MMRRC Submission |
043093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100122198-100135639 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100129873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 172
(R172W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032958]
[ENSMUST00000107059]
|
| AlphaFold |
P56501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032958
AA Change: R172W
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: R172W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
10 |
107 |
3.1e-20 |
PFAM |
|
Pfam:Mito_carr
|
109 |
207 |
9.6e-26 |
PFAM |
|
Pfam:Mito_carr
|
210 |
301 |
2.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107059
AA Change: R172W
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: R172W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
9 |
107 |
5.9e-22 |
PFAM |
|
Pfam:Mito_carr
|
109 |
207 |
1.7e-27 |
PFAM |
|
Pfam:Mito_carr
|
209 |
301 |
9.4e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133850
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous null mutants exhibit a lack of superoxide-induced uncoupling in skeletal muscle mitochondria, accompanied by increased reactive oxygen species formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
C |
T |
9: 118,977,474 (GRCm39) |
G403S |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,640,350 (GRCm39) |
V699I |
probably benign |
Het |
| Amer2 |
AAGGAGGAGGAGGAG |
AAGGAGGAGGAG |
14: 60,616,302 (GRCm39) |
|
probably benign |
Het |
| Bace2 |
A |
T |
16: 97,214,625 (GRCm39) |
Q271L |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,445 (GRCm39) |
K493E |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,778,196 (GRCm39) |
D222E |
probably benign |
Het |
| Ckap2l |
A |
G |
2: 129,127,762 (GRCm39) |
C139R |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,138,257 (GRCm39) |
H485R |
probably benign |
Het |
| Cntfr |
T |
A |
4: 41,663,216 (GRCm39) |
D197V |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,042,747 (GRCm39) |
L2P |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,152,132 (GRCm39) |
V163A |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Flrt2 |
A |
G |
12: 95,747,200 (GRCm39) |
T513A |
probably benign |
Het |
| Gm10801 |
GT |
GTTTTT |
2: 98,492,844 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,849,109 (GRCm39) |
F332I |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,536,946 (GRCm39) |
D947G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,766 (GRCm39) |
D1121E |
probably benign |
Het |
| Hoxa13 |
GG |
GGCG |
6: 52,237,520 (GRCm39) |
|
probably null |
Homo |
| Hoxd13 |
A |
T |
2: 74,499,141 (GRCm39) |
Y163F |
probably damaging |
Het |
| Immt |
C |
A |
6: 71,829,768 (GRCm39) |
P158Q |
probably null |
Het |
| Kcnh5 |
A |
G |
12: 75,177,681 (GRCm39) |
S142P |
possibly damaging |
Het |
| Lnpep |
T |
G |
17: 17,758,956 (GRCm39) |
H796P |
probably benign |
Het |
| Mfhas1 |
C |
A |
8: 36,057,423 (GRCm39) |
R633S |
possibly damaging |
Het |
| Mmp25 |
A |
G |
17: 23,863,734 (GRCm39) |
L32P |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,937,908 (GRCm39) |
E1739G |
probably damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,294 (GRCm39) |
S110T |
probably benign |
Het |
| Parp9 |
A |
G |
16: 35,777,195 (GRCm39) |
K147E |
probably damaging |
Het |
| Pcdha3 |
G |
T |
18: 37,080,989 (GRCm39) |
R577L |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,488,622 (GRCm39) |
I637N |
probably damaging |
Het |
| Polk |
T |
G |
13: 96,632,005 (GRCm39) |
S243R |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,571,168 (GRCm39) |
S584P |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,422,193 (GRCm39) |
V43E |
possibly damaging |
Het |
| Rdh10 |
T |
C |
1: 16,201,408 (GRCm39) |
Y294H |
probably damaging |
Het |
| Rnf126 |
T |
A |
10: 79,598,533 (GRCm39) |
I28F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,833,984 (GRCm39) |
H66L |
possibly damaging |
Het |
| Tet1 |
G |
T |
10: 62,668,686 (GRCm39) |
P1431Q |
probably damaging |
Het |
| Tmco2 |
T |
A |
4: 120,963,190 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,135,962 (GRCm39) |
I2270F |
possibly damaging |
Het |
|
| Other mutations in Ucp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02016:Ucp3
|
APN |
7 |
100,129,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02883:Ucp3
|
APN |
7 |
100,129,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03137:Ucp3
|
APN |
7 |
100,131,969 (GRCm39) |
splice site |
probably benign |
|
|
PIT4576001:Ucp3
|
UTSW |
7 |
100,129,458 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0023:Ucp3
|
UTSW |
7 |
100,134,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0023:Ucp3
|
UTSW |
7 |
100,134,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0532:Ucp3
|
UTSW |
7 |
100,131,186 (GRCm39) |
splice site |
probably benign |
|
|
R0616:Ucp3
|
UTSW |
7 |
100,129,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Ucp3
|
UTSW |
7 |
100,128,748 (GRCm39) |
nonsense |
probably null |
|
|
R1739:Ucp3
|
UTSW |
7 |
100,131,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1939:Ucp3
|
UTSW |
7 |
100,129,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3861:Ucp3
|
UTSW |
7 |
100,129,458 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3958:Ucp3
|
UTSW |
7 |
100,131,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3959:Ucp3
|
UTSW |
7 |
100,131,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4059:Ucp3
|
UTSW |
7 |
100,131,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6463:Ucp3
|
UTSW |
7 |
100,129,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6596:Ucp3
|
UTSW |
7 |
100,131,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7517:Ucp3
|
UTSW |
7 |
100,131,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Ucp3
|
UTSW |
7 |
100,131,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Ucp3
|
UTSW |
7 |
100,131,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Ucp3
|
UTSW |
7 |
100,131,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ucp3
|
UTSW |
7 |
100,129,799 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGTGAGATTCTGACAGTG -3'
(R):5'- TTGGACACTATTTGACGTCCTG -3'
Sequencing Primer
(F):5'- GACAGTGTCAGAGACTCCTAGTTC -3'
(R):5'- ACTATTTGACGTCCTGTGGCCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation