Incidental Mutation 'R7517:Ucp3'
ID 582522
Institutional Source Beutler Lab
Gene Symbol Ucp3
Ensembl Gene ENSMUSG00000032942
Gene Name uncoupling protein 3 (mitochondrial, proton carrier)
Synonyms Slc25a9, UCP-3
MMRRC Submission 045590-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7517 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100122198-100135639 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100131089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 181 (N181D)
Ref Sequence ENSEMBL: ENSMUSP00000032958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032958] [ENSMUST00000107059]
AlphaFold P56501
Predicted Effect probably damaging
Transcript: ENSMUST00000032958
AA Change: N181D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: N181D

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000107059
AA Change: N181D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: N181D

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A T 14: 31,437,331 (GRCm39) V578E possibly damaging Het
Arhgap35 A T 7: 16,296,132 (GRCm39) C978S probably benign Het
Asph A T 4: 9,517,697 (GRCm39) V475E probably damaging Het
Atf7ip2 T A 16: 10,059,399 (GRCm39) probably null Het
Bace1 A T 9: 45,771,559 (GRCm39) D491V probably benign Het
Birc2 A G 9: 7,819,424 (GRCm39) I496T probably benign Het
Cacna2d4 C T 6: 119,248,882 (GRCm39) R448C probably benign Het
Ccdc181 T C 1: 164,107,989 (GRCm39) F224S probably damaging Het
Cdan1 C T 2: 120,558,405 (GRCm39) R469Q probably damaging Het
Ddx21 G A 10: 62,424,569 (GRCm39) P544L probably damaging Het
Epas1 C A 17: 87,138,526 (GRCm39) T874N possibly damaging Het
Fam13b A T 18: 34,627,660 (GRCm39) D180E probably damaging Het
Fcgbp G A 7: 27,784,794 (GRCm39) V285M probably damaging Het
Gcn1 T G 5: 115,757,755 (GRCm39) L2487V probably benign Het
Gm19410 C T 8: 36,240,772 (GRCm39) A216V possibly damaging Het
Gm4871 G T 5: 144,969,430 (GRCm39) R30S probably damaging Het
Gtf2ird1 T C 5: 134,391,379 (GRCm39) D899G probably benign Het
Hipk3 T C 2: 104,265,059 (GRCm39) T674A probably benign Het
Hnrnph3 A G 10: 62,854,674 (GRCm39) L39S unknown Het
Ift122 T C 6: 115,867,543 (GRCm39) V431A probably benign Het
Il36b A G 2: 24,049,890 (GRCm39) H167R probably benign Het
Lce3e T A 3: 92,875,142 (GRCm39) C33S unknown Het
Lrrc26 T C 2: 25,180,545 (GRCm39) I182T probably benign Het
Magi1 T C 6: 93,685,189 (GRCm39) R730G probably damaging Het
Meis3 G T 7: 15,911,743 (GRCm39) V102F probably damaging Het
Mpp7 G A 18: 7,440,183 (GRCm39) Q263* probably null Het
Myo7b A T 18: 32,146,320 (GRCm39) I155N probably damaging Het
Nrip1 A T 16: 76,088,072 (GRCm39) *1162K probably null Het
Or3a1b T A 11: 74,012,335 (GRCm39) D73E probably damaging Het
Or4k50-ps1 T C 2: 111,522,444 (GRCm39) F194L unknown Het
Or8i2 A C 2: 86,852,486 (GRCm39) V134G probably benign Het
Pdik1l T A 4: 134,005,736 (GRCm39) E326V possibly damaging Het
Phrf1 T C 7: 140,836,523 (GRCm39) M265T unknown Het
Piezo2 A T 18: 63,215,996 (GRCm39) N1222K possibly damaging Het
Pkd1 G A 17: 24,799,393 (GRCm39) V2871M probably damaging Het
Pon2 T G 6: 5,268,997 (GRCm39) N226H possibly damaging Het
Rftn2 G T 1: 55,234,708 (GRCm39) D338E probably damaging Het
Rnf123 A T 9: 107,947,473 (GRCm39) Y171* probably null Het
Ror2 A T 13: 53,264,901 (GRCm39) N730K possibly damaging Het
Serpinb6c T A 13: 34,079,278 (GRCm39) N138I probably damaging Het
Smco1 A T 16: 32,092,785 (GRCm39) H152L possibly damaging Het
Tgm3 T G 2: 129,883,684 (GRCm39) S447R probably benign Het
Topbp1 A G 9: 103,209,932 (GRCm39) K860E possibly damaging Het
Uba7 C A 9: 107,853,897 (GRCm39) probably benign Het
Unc13b C A 4: 43,215,765 (GRCm39) S21R probably benign Het
Usp34 T A 11: 23,396,968 (GRCm39) S2395R Het
Other mutations in Ucp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5535:Ucp3 UTSW 7 100,129,873 (GRCm39) missense probably benign 0.45
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
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'- CTGCTTGTGAAGATGCAGGG -3'
(R):5'- TGAACTGGGCACTGCTCTTC -3'

Sequencing Primer
(F):5'- AGCCACCATGTGATTGCTAG -3'
(R):5'- GGGCACTGCTCTTCTCTCTGAC -3'
Posted On 2019-10-17