Incidental Mutation 'R4673:Ucp1'
ID 348623
Institutional Source Beutler Lab
Gene Symbol Ucp1
Ensembl Gene ENSMUSG00000031710
Gene Name uncoupling protein 1 (mitochondrial, proton carrier)
Synonyms Slc25a7
MMRRC Submission 041928-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4673 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84016981-84025081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84021876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 236 (V236A)
Ref Sequence ENSEMBL: ENSMUSP00000034146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034146]
AlphaFold P12242
Predicted Effect probably damaging
Transcript: ENSMUST00000034146
AA Change: V236A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034146
Gene: ENSMUSG00000031710
AA Change: V236A

DomainStartEndE-ValueType
Pfam:Mito_carr 10 107 5.7e-20 PFAM
Pfam:Mito_carr 109 206 3.3e-20 PFAM
Pfam:Mito_carr 209 300 1.6e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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 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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit impaired thermoregulation on some genetic backgrounds. Biochemical alterations in brown fat mitochondria are also observed. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(2) Spontaneous(1)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T C 8: 25,374,471 (GRCm39) E507G probably damaging Het
Adam39 C T 8: 41,277,768 (GRCm39) T53I probably benign Het
Adam4 A T 12: 81,468,535 (GRCm39) S29T possibly damaging Het
Adamdec1 C A 14: 68,815,353 (GRCm39) E104* probably null Het
Alas1 G T 9: 106,113,676 (GRCm39) P523Q probably damaging Het
Aldh3a1 A G 11: 61,104,320 (GRCm39) D69G probably benign Het
Arhgap29 T A 3: 121,808,620 (GRCm39) V1266E probably damaging Het
Bcdin3d T C 15: 99,368,719 (GRCm39) D160G probably damaging Het
Btaf1 T A 19: 36,955,772 (GRCm39) F569I probably benign Het
Cacna1b A G 2: 24,521,956 (GRCm39) L1718S probably damaging Het
Casd1 A G 6: 4,629,975 (GRCm39) Y457C probably damaging Het
Creb3 T C 4: 43,563,192 (GRCm39) V97A probably benign Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Fhip1a A T 3: 85,638,020 (GRCm39) V93D probably damaging Het
Fsbp T G 4: 11,579,841 (GRCm39) N36K probably benign Het
Gm11565 A G 11: 99,806,040 (GRCm39) D144G probably benign Het
Gpn3 A G 5: 122,511,981 (GRCm39) Y19C probably damaging Het
Gstz1 A T 12: 87,208,837 (GRCm39) T148S probably benign Het
Gtf3c5 A G 2: 28,462,236 (GRCm39) I282T probably benign Het
Hspa2 T A 12: 76,452,514 (GRCm39) S403T possibly damaging Het
Il27 G A 7: 126,190,251 (GRCm39) T121I possibly damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kctd1 T A 18: 15,196,284 (GRCm39) probably benign Het
Kynu A G 2: 43,569,815 (GRCm39) T366A probably damaging Het
Lama5 G A 2: 179,841,059 (GRCm39) T507I probably damaging Het
Myh11 C T 16: 14,087,105 (GRCm39) V124M probably damaging Het
Myh14 T A 7: 44,273,754 (GRCm39) H1331L probably damaging Het
Myh2 T A 11: 67,079,303 (GRCm39) L957Q probably damaging Het
Myh4 T C 11: 67,137,227 (GRCm39) F483L probably benign Het
Nbeal1 A C 1: 60,368,549 (GRCm39) K2631N probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Ogg1 T C 6: 113,304,268 (GRCm39) C28R probably damaging Het
Or13c7c T C 4: 43,836,430 (GRCm39) H20R probably benign Het
Or5b24 G A 19: 12,912,461 (GRCm39) A120T probably damaging Het
Or5k17 C T 16: 58,746,053 (GRCm39) V294I possibly damaging Het
Or6e1 C T 14: 54,519,789 (GRCm39) A188T possibly damaging Het
Or7g35 A G 9: 19,496,726 (GRCm39) K298E possibly damaging Het
Parp6 G C 9: 59,547,393 (GRCm39) R460P probably damaging Het
Phf14 A G 6: 11,992,056 (GRCm39) H744R probably damaging Het
Pibf1 A G 14: 99,370,787 (GRCm39) N263S possibly damaging Het
Plcb4 A G 2: 135,774,191 (GRCm39) T158A possibly damaging Het
Plce1 T C 19: 38,737,840 (GRCm39) S1615P possibly damaging Het
Plxna3 T G X: 73,382,554 (GRCm39) probably null Het
Rad54b T A 4: 11,609,449 (GRCm39) H633Q probably benign Het
Rgs22 T A 15: 36,100,079 (GRCm39) Y212F probably benign Het
Rnd3 G A 2: 51,022,553 (GRCm39) A163V probably benign Het
Rnf10 A T 5: 115,389,148 (GRCm39) V315E probably damaging Het
Robo2 C T 16: 73,701,266 (GRCm39) probably null Het
Rp1l1 T G 14: 64,268,719 (GRCm39) V1435G probably damaging Het
Scaf8 T A 17: 3,248,260 (GRCm39) D1194E probably benign Het
Septin12 T C 16: 4,809,807 (GRCm39) T198A probably damaging Het
Shisa2 A G 14: 59,867,629 (GRCm39) T294A probably damaging Het
Spta1 A G 1: 174,018,628 (GRCm39) probably null Het
Strbp A T 2: 37,535,691 (GRCm39) S6T probably damaging Het
Syf2 A G 4: 134,661,804 (GRCm39) E56G probably damaging Het
Thap4 T C 1: 93,642,588 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,887,580 (GRCm39) probably benign Het
Tnxb A G 17: 34,891,514 (GRCm39) E619G probably damaging Het
Tpr G A 1: 150,299,318 (GRCm39) A1173T probably benign Het
Tspan3 G A 9: 56,043,980 (GRCm39) R240W probably damaging Het
Tut7 G T 13: 59,944,659 (GRCm39) T658K probably damaging Het
Ubr4 C T 4: 139,138,027 (GRCm39) S1128L probably damaging Het
Usp34 TCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCAC 11: 23,314,480 (GRCm39) probably benign Het
Zfp940 T C 7: 29,544,863 (GRCm39) D348G probably benign Het
Zpld2 G A 4: 133,927,658 (GRCm39) A365V probably benign Het
Other mutations in Ucp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4585001:Ucp1 UTSW 8 84,020,577 (GRCm39) missense probably damaging 1.00
R0050:Ucp1 UTSW 8 84,020,857 (GRCm39) missense probably damaging 1.00
R0055:Ucp1 UTSW 8 84,017,233 (GRCm39) nonsense probably null
R0055:Ucp1 UTSW 8 84,017,233 (GRCm39) nonsense probably null
R0505:Ucp1 UTSW 8 84,021,936 (GRCm39) missense possibly damaging 0.78
R0590:Ucp1 UTSW 8 84,018,232 (GRCm39) splice site probably benign
R0681:Ucp1 UTSW 8 84,021,936 (GRCm39) missense possibly damaging 0.78
R0731:Ucp1 UTSW 8 84,024,476 (GRCm39) splice site probably benign
R1606:Ucp1 UTSW 8 84,021,933 (GRCm39) missense probably damaging 1.00
R1722:Ucp1 UTSW 8 84,017,317 (GRCm39) missense probably benign 0.25
R1809:Ucp1 UTSW 8 84,024,496 (GRCm39) missense probably damaging 0.99
R1823:Ucp1 UTSW 8 84,020,661 (GRCm39) missense probably damaging 1.00
R3809:Ucp1 UTSW 8 84,017,270 (GRCm39) missense probably damaging 0.99
R4085:Ucp1 UTSW 8 84,020,580 (GRCm39) missense probably benign 0.43
R4998:Ucp1 UTSW 8 84,024,484 (GRCm39) critical splice acceptor site probably null
R5163:Ucp1 UTSW 8 84,020,832 (GRCm39) missense possibly damaging 0.95
R5421:Ucp1 UTSW 8 84,017,320 (GRCm39) missense probably benign 0.12
R5790:Ucp1 UTSW 8 84,024,520 (GRCm39) missense possibly damaging 0.54
R5994:Ucp1 UTSW 8 84,020,567 (GRCm39) missense possibly damaging 0.92
R6574:Ucp1 UTSW 8 84,020,718 (GRCm39) critical splice donor site probably null
R6732:Ucp1 UTSW 8 84,018,106 (GRCm39) missense probably benign 0.08
R7282:Ucp1 UTSW 8 84,020,531 (GRCm39) missense probably benign 0.03
R7343:Ucp1 UTSW 8 84,021,881 (GRCm39) missense probably damaging 0.99
R7878:Ucp1 UTSW 8 84,024,521 (GRCm39) missense probably benign 0.19
R8008:Ucp1 UTSW 8 84,020,640 (GRCm39) missense probably benign 0.32
R8365:Ucp1 UTSW 8 84,020,628 (GRCm39) missense probably damaging 0.97
R8899:Ucp1 UTSW 8 84,017,216 (GRCm39) missense probably benign 0.35
R9186:Ucp1 UTSW 8 84,017,272 (GRCm39) nonsense probably null
R9499:Ucp1 UTSW 8 84,024,509 (GRCm39) missense probably damaging 1.00
R9551:Ucp1 UTSW 8 84,024,509 (GRCm39) missense probably damaging 1.00
R9552:Ucp1 UTSW 8 84,024,509 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGTTTCTCTACACAAGCATATGC -3'
(R):5'- ATAGAGTTGGAGGCCATTGCAG -3'

Sequencing Primer
(F):5'- CAAAGTCTGGTGTTGCTC -3'
(R):5'- AGGCCATTGCAGGGACCAG -3'
Posted On 2015-10-08