Incidental Mutation 'IGL02883:Ucp3'
ID362893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ucp3
Ensembl Gene ENSMUSG00000032942
Gene Nameuncoupling protein 3 (mitochondrial, proton carrier)
SynonymsUCP-3, Slc25a9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02883
Quality Score
Status
Chromosome7
Chromosomal Location100472990-100486432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100480642 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 164 (T164S)
Ref Sequence ENSEMBL: ENSMUSP00000102674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032958] [ENSMUST00000107059]
Predicted Effect probably benign
Transcript: ENSMUST00000032958
AA Change: T164S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: T164S

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: T164S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: T164S

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
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Ucp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Ucp3 APN 7 100480559 missense probably damaging 1.00
IGL03137:Ucp3 APN 7 100482762 splice site probably benign
PIT4576001:Ucp3 UTSW 7 100480251 missense probably benign 0.04
R0023:Ucp3 UTSW 7 100485043 missense probably benign 0.00
R0023:Ucp3 UTSW 7 100485043 missense probably benign 0.00
R0532:Ucp3 UTSW 7 100481979 splice site probably benign
R0616:Ucp3 UTSW 7 100480161 missense probably benign 0.00
R0833:Ucp3 UTSW 7 100479541 nonsense probably null
R1739:Ucp3 UTSW 7 100482720 missense probably benign 0.01
R1939:Ucp3 UTSW 7 100480664 missense probably benign 0.00
R3861:Ucp3 UTSW 7 100480251 missense probably benign 0.04
R3958:Ucp3 UTSW 7 100482739 missense probably benign 0.00
R3959:Ucp3 UTSW 7 100482739 missense probably benign 0.00
R4059:Ucp3 UTSW 7 100482664 missense probably damaging 0.99
R5535:Ucp3 UTSW 7 100480666 missense probably benign 0.45
R6463:Ucp3 UTSW 7 100480269 missense probably benign 0.00
R6596:Ucp3 UTSW 7 100481933 missense probably benign 0.01
R7517:Ucp3 UTSW 7 100481882 missense probably damaging 1.00
R7693:Ucp3 UTSW 7 100482592 missense probably benign 0.00
Z1177:Ucp3 UTSW 7 100480592 missense possibly damaging 0.55
Posted On2015-12-18