Incidental Mutation 'R0023:Ucp3'
ID 64826
Institutional Source Beutler Lab
Gene Symbol Ucp3
Ensembl Gene ENSMUSG00000032942
Gene Name uncoupling protein 3 (mitochondrial, proton carrier)
Synonyms Slc25a9, UCP-3
MMRRC Submission 038318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0023 (G1)
Quality Score 205
Status Validated
Chromosome 7
Chromosomal Location 100122198-100135639 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100134250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 288 (V288L)
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: V288L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: V288L

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: V288L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: V288L

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 0.1984 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A C 4: 144,255,567 (GRCm39) D329A probably damaging Het
Abcc12 T A 8: 87,264,962 (GRCm39) H661L probably damaging Het
Abcg4 A G 9: 44,186,672 (GRCm39) Y491H probably damaging Het
Acsbg2 C G 17: 57,154,710 (GRCm39) A481P probably damaging Het
Aknad1 T A 3: 108,688,501 (GRCm39) C610S probably benign Het
Ang4 G T 14: 52,001,860 (GRCm39) Y29* probably null Het
Aqp11 A T 7: 97,375,896 (GRCm39) I251N possibly damaging Het
Arid1a G T 4: 133,418,487 (GRCm39) T1032K unknown Het
Atg16l1 T C 1: 87,717,187 (GRCm39) V538A probably benign Het
Bbs1 C T 19: 4,956,042 (GRCm39) A44T probably damaging Het
Bpifa3 A C 2: 153,980,070 (GRCm39) H234P probably damaging Het
Btbd9 A T 17: 30,749,188 (GRCm39) V42E probably damaging Het
Carmil3 C G 14: 55,730,333 (GRCm39) S15R probably damaging Het
Casp8ap2 A G 4: 32,640,185 (GRCm39) D413G probably damaging Het
Cfap44 T A 16: 44,241,583 (GRCm39) F651L probably benign Het
Clcn3 A T 8: 61,386,104 (GRCm39) probably benign Het
Crip3 A G 17: 46,741,920 (GRCm39) K136E probably damaging Het
Ctr9 G A 7: 110,643,154 (GRCm39) A509T possibly damaging Het
D930020B18Rik T C 10: 121,525,726 (GRCm39) S367P probably damaging Het
Dhrs11 A T 11: 84,713,976 (GRCm39) L125H probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Efcab7 A T 4: 99,758,834 (GRCm39) probably benign Het
Eif2ak4 A C 2: 118,293,202 (GRCm39) S1253R probably damaging Het
Emc1 A G 4: 139,098,320 (GRCm39) D767G probably damaging Het
Fads1 G A 19: 10,164,261 (GRCm39) probably benign Het
Fbxw26 T C 9: 109,547,079 (GRCm39) T449A probably benign Het
Frrs1 T C 3: 116,690,437 (GRCm39) F27L probably damaging Het
Fry T C 5: 150,374,563 (GRCm39) S2358P possibly damaging Het
Gas6 A C 8: 13,520,344 (GRCm39) L448R probably damaging Het
Hikeshi T C 7: 89,569,412 (GRCm39) probably benign Het
Ifngr1 C T 10: 19,485,197 (GRCm39) R399* probably null Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Knl1 C T 2: 118,933,030 (GRCm39) T2063I possibly damaging Het
Lyzl6 A G 11: 103,527,697 (GRCm39) V9A probably benign Het
Macf1 A T 4: 123,382,107 (GRCm39) probably benign Het
Myo6 T C 9: 80,190,816 (GRCm39) V789A possibly damaging Het
Myo9b A T 8: 71,786,412 (GRCm39) R693W probably damaging Het
Nasp A G 4: 116,462,968 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,044,900 (GRCm39) F247L probably damaging Het
Plekhs1 T G 19: 56,466,948 (GRCm39) S260A probably damaging Het
Rpl21-ps6 T C 17: 56,222,536 (GRCm39) noncoding transcript Het
Rtcb A T 10: 85,785,315 (GRCm39) probably benign Het
Sppl2a T A 2: 126,755,213 (GRCm39) probably null Het
Suco A T 1: 161,673,154 (GRCm39) probably null Het
Tnn T A 1: 159,932,498 (GRCm39) T1075S probably benign Het
Traf3 T A 12: 111,209,912 (GRCm39) C169* probably null Het
Ulk3 C A 9: 57,497,639 (GRCm39) C4* probably null Het
Vmn1r73 A T 7: 11,490,997 (GRCm39) T272S probably benign Het
Vmn2r115 G A 17: 23,565,252 (GRCm39) E380K probably benign Het
Vmn2r3 T A 3: 64,182,787 (GRCm39) N304I probably damaging Het
Xylt1 G T 7: 117,233,928 (GRCm39) G485V probably damaging Het
Yars1 A G 4: 129,090,981 (GRCm39) T130A probably benign Het
Zfp652 A T 11: 95,644,295 (GRCm39) R205* probably null 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
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
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'- CGTCGAGAATGAACCTCCTACACAG -3'
(R):5'- TCCCATCAGGTCAGTGCAAAACAG -3'

Sequencing Primer
(F):5'- TGCCTAAATCCCTTCAGTAGAGAG -3'
(R):5'- TCAGTGCAAAACAGAGGTGTTTTAG -3'
Posted On 2013-08-06