Incidental Mutation 'R3958:Ucp3'
ID 310803
Institutional Source Beutler Lab
Gene Symbol Ucp3
Ensembl Gene ENSMUSG00000032942
Gene Name uncoupling protein 3 (mitochondrial, proton carrier)
Synonyms Slc25a9, UCP-3
MMRRC Submission 040834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3958 (G1)
Quality Score 217
Status Validated
Chromosome 7
Chromosomal Location 100122198-100135639 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100131946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 266 (T266A)
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: T266A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: T266A

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 benign
Transcript: ENSMUST00000107059
AA Change: T266A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: T266A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133850
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 100% (37/37)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,652,738 (GRCm39) K266R probably benign Het
Cebpd T C 16: 15,705,327 (GRCm39) S47P possibly damaging Het
Celf4 A G 18: 25,670,811 (GRCm39) M124T probably benign Het
Ckap4 C T 10: 84,364,028 (GRCm39) R345H probably benign Het
Clasp1 T C 1: 118,395,611 (GRCm39) V183A probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etl4 A G 2: 20,344,854 (GRCm39) T53A probably benign Het
Glyat A T 19: 12,617,197 (GRCm39) K16N probably benign Het
Gm6522 T C 3: 106,206,120 (GRCm39) noncoding transcript Het
Grin1 G A 2: 25,203,465 (GRCm39) T182M probably damaging Het
Hcn4 T C 9: 58,751,331 (GRCm39) V319A unknown Het
Hmgcs2 T C 3: 98,204,793 (GRCm39) F317S possibly damaging Het
Hoxd8 C T 2: 74,536,884 (GRCm39) Q18* probably null Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Kmt2d G A 15: 98,753,430 (GRCm39) T141M possibly damaging Het
Lrp1 A G 10: 127,407,827 (GRCm39) S1821P probably benign Het
Neb T C 2: 52,153,641 (GRCm39) E2428G probably damaging Het
Nepn T C 10: 52,276,804 (GRCm39) V119A probably benign Het
Or4k41 G T 2: 111,280,230 (GRCm39) L248F possibly damaging Het
Otogl T C 10: 107,657,786 (GRCm39) D1048G probably damaging Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Ppp6r3 A T 19: 3,546,583 (GRCm39) V305D probably damaging Het
Prkg2 G T 5: 99,145,354 (GRCm39) T160K possibly damaging Het
Prmt8 G A 6: 127,709,707 (GRCm39) T51I probably benign Het
Rgl3 T C 9: 21,886,885 (GRCm39) probably benign Het
Sec23ip C G 7: 128,378,574 (GRCm39) T796S probably benign Het
Selp T C 1: 163,953,855 (GRCm39) S52P probably benign Het
Slc44a2 T C 9: 21,259,837 (GRCm39) I615T probably damaging Het
Snap91 T C 9: 86,720,183 (GRCm39) Y118C probably damaging Het
Tmem106b A T 6: 13,081,587 (GRCm39) N165Y probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Utrn T C 10: 12,625,852 (GRCm39) I110V probably damaging 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
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
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'- AGACAACTTCCCCTGTCACT -3'
(R):5'- ATTTTACCTAGCCTGGGCCT -3'

Sequencing Primer
(F):5'- ACTTTGTCTCTGCCTTTGGAG -3'
(R):5'- GTGTGCCTACAATGCAGTACTCAG -3'
Posted On 2015-04-29