Incidental Mutation 'R0681:Ucp1'
ID 60970
Institutional Source Beutler Lab
Gene Symbol Ucp1
Ensembl Gene ENSMUSG00000031710
Gene Name uncoupling protein 1 (mitochondrial, proton carrier)
Synonyms Slc25a7
MMRRC Submission 038866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0681 (G1)
Quality Score 141
Status Validated
Chromosome 8
Chromosomal Location 84016981-84025081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84021936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 256 (M256K)
Ref Sequence ENSEMBL: ENSMUSP00000034146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034146]
AlphaFold P12242
Predicted Effect possibly damaging
Transcript: ENSMUST00000034146
AA Change: M256K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034146
Gene: ENSMUSG00000031710
AA Change: M256K

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
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,676,649 (GRCm39) D1341Y probably damaging Het
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Cdk13 A G 13: 17,895,882 (GRCm39) probably benign Het
Cfhr1 A T 1: 139,485,249 (GRCm39) S66T probably damaging Het
Cldn6 C A 17: 23,900,167 (GRCm39) Q44K probably damaging Het
Cntnap5c T C 17: 58,612,550 (GRCm39) V863A possibly damaging Het
Col6a4 T A 9: 105,944,343 (GRCm39) K1044* probably null Het
Cyb561d1 A G 3: 108,106,583 (GRCm39) V212A probably benign Het
Cyp1b1 A G 17: 80,021,275 (GRCm39) S156P probably damaging Het
Dock7 G A 4: 98,904,941 (GRCm39) H645Y probably damaging Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Fastkd3 C T 13: 68,740,047 (GRCm39) probably benign Het
Galnt10 T A 11: 57,660,366 (GRCm39) V268D probably damaging Het
Grb14 G T 2: 64,747,631 (GRCm39) A10E probably damaging Het
Grin2c A G 11: 115,140,479 (GRCm39) V1213A probably benign Het
Grip1 C T 10: 119,846,135 (GRCm39) T570I probably damaging Het
Hif1an T C 19: 44,551,762 (GRCm39) Y71H probably benign Het
Hsd17b11 T A 5: 104,151,072 (GRCm39) I221L probably benign Het
Htra1 A T 7: 130,581,027 (GRCm39) probably benign Het
Igfn1 T C 1: 135,891,591 (GRCm39) E2308G possibly damaging Het
Mapk9 T A 11: 49,760,072 (GRCm39) S129T probably damaging Het
Med22 T C 2: 26,800,391 (GRCm39) T13A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mtus1 A T 8: 41,446,554 (GRCm39) L489Q probably damaging Het
Naprt G A 15: 75,765,481 (GRCm39) P120S probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Ogfod2 A G 5: 124,250,907 (GRCm39) E62G probably null Het
Or13a1 A T 6: 116,471,361 (GRCm39) S264C probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Palm A C 10: 79,655,327 (GRCm39) T362P probably benign Het
Pcare T G 17: 72,056,509 (GRCm39) H1056P probably benign Het
Pcdh8 T C 14: 80,007,400 (GRCm39) T388A probably benign Het
Pclo A G 5: 14,725,332 (GRCm39) I1397V unknown Het
Per1 A G 11: 68,992,027 (GRCm39) E127G probably damaging Het
Plekha1 T C 7: 130,502,353 (GRCm39) V30A possibly damaging Het
Pramel24 A T 4: 143,454,622 (GRCm39) T307S probably benign Het
Rab26 A G 17: 24,746,940 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,750 (GRCm39) D999G possibly damaging Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rrp1b T C 17: 32,279,369 (GRCm39) S677P probably damaging Het
Scaf4 G A 16: 90,046,582 (GRCm39) P485S unknown Het
Scn5a A T 9: 119,368,706 (GRCm39) M273K probably damaging Het
Sec22a C T 16: 35,181,926 (GRCm39) probably null Het
Slc10a6 C A 5: 103,760,315 (GRCm39) V227F possibly damaging Het
Slc39a3 C G 10: 80,869,565 (GRCm39) E31Q probably benign Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Tdrd7 T A 4: 46,016,879 (GRCm39) M673K probably benign Het
Trim8 C A 19: 46,503,532 (GRCm39) S361R possibly damaging Het
Vmn1r46 A T 6: 89,953,946 (GRCm39) D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 (GRCm39) I532M probably damaging 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
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
R4673:Ucp1 UTSW 8 84,021,876 (GRCm39) missense probably damaging 1.00
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'- ACCACATACAGCTCAAAGTCTGGTG -3'
(R):5'- GGTTTCCAATGCAATACAGCAGCAC -3'

Sequencing Primer
(F):5'- CAAAGTCTGGTGTTGCTCAC -3'
(R):5'- agtcccctcaagtgctacc -3'
Posted On 2013-07-30