Incidental Mutation 'R0616:Ucp3'
ID 58323
Institutional Source Beutler Lab
Gene Symbol Ucp3
Ensembl Gene ENSMUSG00000032942
Gene Name uncoupling protein 3 (mitochondrial, proton carrier)
Synonyms Slc25a9, UCP-3
MMRRC Submission 038805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0616 (G1)
Quality Score 215
Status Not validated
Chromosome 7
Chromosomal Location 100122198-100135639 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100129368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 68 (T68S)
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: T68S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942
AA Change: T68S

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: T68S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942
AA Change: T68S

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.1%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,341,830 (GRCm39) Q1044K probably damaging Het
Abi3bp A T 16: 56,474,433 (GRCm39) T723S probably damaging Het
Ackr3 G A 1: 90,142,191 (GRCm39) V217I probably benign Het
Acnat2 A G 4: 49,380,269 (GRCm39) S370P probably damaging Het
Arap1 A G 7: 101,050,857 (GRCm39) R1152G possibly damaging Het
Arhgap15 G A 2: 44,006,729 (GRCm39) probably null Het
Arhgap5 C T 12: 52,563,848 (GRCm39) T273I possibly damaging Het
Armh4 G T 14: 50,011,113 (GRCm39) T198K possibly damaging Het
C1s2 T C 6: 124,605,723 (GRCm39) E332G probably damaging Het
Camp G A 9: 109,677,707 (GRCm39) R88W probably benign Het
Cdkl2 A G 5: 92,156,863 (GRCm39) M564T probably benign Het
Ceacam20 A G 7: 19,704,321 (GRCm39) H124R probably benign Het
Cep19 C T 16: 31,922,829 (GRCm39) R32C probably damaging Het
Cep295 G A 9: 15,243,618 (GRCm39) Q1565* probably null Het
Chd3 T C 11: 69,236,313 (GRCm39) E1932G probably damaging Het
Cibar1 G A 4: 12,168,234 (GRCm39) R210* probably null Het
Cnr2 G T 4: 135,644,873 (GRCm39) W317L probably benign Het
Cntnap5a C T 1: 116,508,279 (GRCm39) H1264Y possibly damaging Het
Depdc7 T A 2: 104,557,650 (GRCm39) N200I probably benign Het
Dock4 T C 12: 40,754,414 (GRCm39) S468P probably benign Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Fam217a C A 13: 35,097,666 (GRCm39) S55I probably benign Het
Farp1 G A 14: 121,514,434 (GRCm39) R921H probably damaging Het
Fat4 A G 3: 38,997,019 (GRCm39) D1746G probably damaging Het
Fbxw5 T C 2: 25,392,517 (GRCm39) F100L probably damaging Het
Gli3 C A 13: 15,836,991 (GRCm39) T458K possibly damaging Het
Gm4841 T C 18: 60,404,009 (GRCm39) Y28C probably benign Het
Gprc5d T C 6: 135,093,430 (GRCm39) E159G probably benign Het
Grm4 A T 17: 27,653,538 (GRCm39) I757N probably damaging Het
Hagh A G 17: 25,076,551 (GRCm39) Y94C probably damaging Het
Hycc1 T C 5: 24,191,770 (GRCm39) T44A probably damaging Het
Itpkb T C 1: 180,249,301 (GRCm39) I892T probably damaging Het
Kcmf1 T C 6: 72,827,467 (GRCm39) I58V probably benign Het
Khdrbs2 A G 1: 32,506,856 (GRCm39) I167V possibly damaging Het
Kmt2c A G 5: 25,504,250 (GRCm39) I275T probably benign Het
Lingo4 A G 3: 94,310,388 (GRCm39) K442R probably benign Het
Mak T C 13: 41,195,661 (GRCm39) N382D probably benign Het
Maob G A X: 16,576,402 (GRCm39) T480I possibly damaging Het
Mcoln1 A G 8: 3,565,025 (GRCm39) E573G probably benign Het
Ms4a6b G A 19: 11,504,262 (GRCm39) probably null Het
Muc5ac A G 7: 141,349,981 (GRCm39) M576V probably benign Het
Nme8 T A 13: 19,875,029 (GRCm39) D126V probably benign Het
Npy2r T A 3: 82,448,670 (GRCm39) D35V possibly damaging Het
Nrxn1 T C 17: 90,670,285 (GRCm39) D193G probably damaging Het
Or2g7 A C 17: 38,378,131 (GRCm39) E23A probably damaging Het
Or2y1e T C 11: 49,218,583 (GRCm39) L115P probably damaging Het
Or4c10b T A 2: 89,711,935 (GRCm39) V255E probably benign Het
Or4d5 A T 9: 40,012,283 (GRCm39) F168I probably damaging Het
Or52b4i T A 7: 102,191,761 (GRCm39) M206K possibly damaging Het
Or6d14 A G 6: 116,533,889 (GRCm39) I168V probably benign Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Or8c17 G T 9: 38,180,630 (GRCm39) V266L probably benign Het
Or8g18 G A 9: 39,148,946 (GRCm39) T258M probably benign Het
Pabpc2 A T 18: 39,906,792 (GRCm39) H19L possibly damaging Het
Pcdhb9 A T 18: 37,535,028 (GRCm39) K341* probably null Het
Pde4dip T C 3: 97,654,849 (GRCm39) I859M probably benign Het
Pfkfb2 T C 1: 130,634,159 (GRCm39) probably null Het
Pigg C T 5: 108,461,951 (GRCm39) T94M probably damaging Het
Pik3c2b T C 1: 133,028,569 (GRCm39) F1353L probably damaging Het
Prg4 T C 1: 150,336,462 (GRCm39) D87G probably damaging Het
Prkdc A T 16: 15,508,271 (GRCm39) D974V probably damaging Het
Prmt3 A G 7: 49,437,076 (GRCm39) Y217C probably damaging Het
Proser1 A G 3: 53,382,118 (GRCm39) T192A probably damaging Het
Rab3d G A 9: 21,826,060 (GRCm39) T118M probably damaging Het
Rb1cc1 A G 1: 6,314,486 (GRCm39) K386R possibly damaging Het
Rcn2 A G 9: 55,963,534 (GRCm39) D221G probably benign Het
Rhbdl3 T G 11: 80,222,687 (GRCm39) H245Q probably damaging Het
Ribc1 T C X: 150,788,787 (GRCm39) E204G probably damaging Het
Rpap1 G A 2: 119,608,601 (GRCm39) L254F probably damaging Het
Rrp12 A G 19: 41,880,988 (GRCm39) F148L possibly damaging Het
Rusf1 A T 7: 127,871,803 (GRCm39) probably null Het
Setdb1 A T 3: 95,249,109 (GRCm39) I333K probably damaging Het
Simc1 A G 13: 54,694,845 (GRCm39) I1210V probably benign Het
Smchd1 T A 17: 71,686,569 (GRCm39) D1379V probably benign Het
Snap29 A T 16: 17,240,370 (GRCm39) K159* probably null Het
Spdye4c A T 2: 128,436,132 (GRCm39) K176M possibly damaging Het
Stk31 T A 6: 49,400,419 (GRCm39) W415R probably damaging Het
Supt6 C T 11: 78,100,321 (GRCm39) R1497Q probably damaging Het
Tenm3 A G 8: 48,729,191 (GRCm39) I1605T possibly damaging Het
Ttn T C 2: 76,676,967 (GRCm39) probably null Het
Ttn A G 2: 76,728,011 (GRCm39) probably benign Het
Ugt2b36 T C 5: 87,237,336 (GRCm39) N316D probably benign Het
Usp4 T G 9: 108,244,003 (GRCm39) S247A probably benign Het
Utp20 A T 10: 88,606,613 (GRCm39) V1653D probably benign Het
Vmn1r183 A G 7: 23,754,250 (GRCm39) I18V probably benign Het
Vmn1r237 A G 17: 21,534,885 (GRCm39) M203V probably damaging Het
Vmn1r61 A T 7: 5,613,998 (GRCm39) F105L possibly damaging Het
Zfp462 T C 4: 55,011,951 (GRCm39) C158R probably damaging Het
Zfyve16 C G 13: 92,657,637 (GRCm39) R758P 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
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'- CCGAATAAGTGCTGCTTTGTGAACC -3'
(R):5'- ACCAGTGTCTGTCATCAGCTTGCC -3'

Sequencing Primer
(F):5'- TGCTTTGTGAACCGCAGC -3'
(R):5'- GGTGGACAACTCCATATCCTTGAC -3'
Posted On 2013-07-11