Incidental Mutation 'R1808:Ucp2'
ID 203601
Institutional Source Beutler Lab
Gene Symbol Ucp2
Ensembl Gene ENSMUSG00000033685
Gene Name uncoupling protein 2 (mitochondrial, proton carrier)
Synonyms
MMRRC Submission 039837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R1808 (G1)
Quality Score 176
Status Not validated
Chromosome 7
Chromosomal Location 100142565-100148832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100148021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 238 (V238A)
Ref Sequence ENSEMBL: ENSMUSP00000146337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126534] [ENSMUST00000129324] [ENSMUST00000133044] [ENSMUST00000207748] [ENSMUST00000154516] [ENSMUST00000207405] [ENSMUST00000153287]
AlphaFold P70406
Predicted Effect probably benign
Transcript: ENSMUST00000054923
SMART Domains Protein: ENSMUSP00000059074
Gene: ENSMUSG00000030708

DomainStartEndE-ValueType
DnaJ 3 60 3.52e-23 SMART
Pfam:DnaJ_C 140 299 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126381
Predicted Effect possibly damaging
Transcript: ENSMUST00000126534
AA Change: V238A

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120967
Gene: ENSMUSG00000033685
AA Change: V238A

DomainStartEndE-ValueType
Pfam:Mito_carr 10 111 1.3e-21 PFAM
Pfam:Mito_carr 112 208 2e-27 PFAM
Pfam:Mito_carr 211 302 5.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129324
SMART Domains Protein: ENSMUSP00000115648
Gene: ENSMUSG00000033685

DomainStartEndE-ValueType
Pfam:Mito_carr 9 65 8.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130534
Predicted Effect probably benign
Transcript: ENSMUST00000133044
SMART Domains Protein: ENSMUSP00000115598
Gene: ENSMUSG00000033685

DomainStartEndE-ValueType
Pfam:Mito_carr 9 111 2.6e-23 PFAM
Pfam:Mito_carr 112 172 1.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207748
AA Change: V238A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149808
Predicted Effect probably benign
Transcript: ENSMUST00000154516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133498
Predicted Effect probably benign
Transcript: ENSMUST00000207405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207890
Predicted Effect probably benign
Transcript: ENSMUST00000153287
SMART Domains Protein: ENSMUSP00000115953
Gene: ENSMUSG00000033685

DomainStartEndE-ValueType
Pfam:Mito_carr 9 111 6.4e-24 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.9%
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. 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 in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have elevated pancreatic islet cell ATP levels and increased glucose-stimulated secretion of insulin. Homozygotes also show reduced mitochondrial proton leak in thymocytes and increased resistance to infection by Toxoplasma gondii. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik G T 5: 146,121,691 (GRCm39) Y69* probably null Het
2310011J03Rik A G 10: 80,156,015 (GRCm39) probably null Het
A2ml1 A C 6: 128,520,262 (GRCm39) D1367E probably damaging Het
Adam6a C G 12: 113,508,334 (GRCm39) L236V probably benign Het
Arf3 T C 15: 98,638,954 (GRCm39) N101S probably benign Het
Arhgap42 T C 9: 9,180,051 (GRCm39) E76G probably damaging Het
Atp2a1 A G 7: 126,052,573 (GRCm39) F382S probably damaging Het
Bud13 T A 9: 46,199,705 (GRCm39) F355L probably benign Het
C2 G A 17: 35,083,508 (GRCm39) P349S probably damaging Het
Cbl C A 9: 44,075,526 (GRCm39) G373V probably damaging Het
Ccdc3 T A 2: 5,142,896 (GRCm39) L51Q probably damaging Het
Ccdc34 T A 2: 109,874,601 (GRCm39) M320K probably benign Het
Cntln A G 4: 85,015,000 (GRCm39) E1097G probably damaging Het
Ctsc A C 7: 87,948,750 (GRCm39) K195Q possibly damaging Het
Ctsf C T 19: 4,906,562 (GRCm39) P163L probably benign Het
Dcxr A T 11: 120,616,438 (GRCm39) probably null Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dnah8 T C 17: 30,903,160 (GRCm39) L933P probably damaging Het
Dtna T C 18: 23,702,697 (GRCm39) L76P probably damaging Het
Fcgbp T A 7: 27,784,515 (GRCm39) C192S probably benign Het
Galnt5 T A 2: 57,916,137 (GRCm39) D683E probably benign Het
Greb1l G A 18: 10,542,143 (GRCm39) A1297T probably benign Het
Grik4 T C 9: 42,540,322 (GRCm39) N286S probably benign Het
Hrc A T 7: 44,986,202 (GRCm39) E451V probably damaging Het
Hrh3 G A 2: 179,741,577 (GRCm39) probably benign Het
Ints13 A G 6: 146,455,695 (GRCm39) I152T probably damaging Het
Irgm1 A T 11: 48,757,259 (GRCm39) V184D probably damaging Het
Itga5 C T 15: 103,258,826 (GRCm39) A791T probably damaging Het
Kcp T C 6: 29,505,654 (GRCm39) T73A probably benign Het
Kidins220 A G 12: 25,053,008 (GRCm39) T433A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Kmt2d T C 15: 98,764,567 (GRCm39) D12G probably damaging Het
Mms19 A G 19: 41,954,698 (GRCm39) S74P probably damaging Het
Myh1 G T 11: 67,102,300 (GRCm39) E864* probably null Het
Nek1 A G 8: 61,469,264 (GRCm39) D107G probably damaging Het
Npc1 T C 18: 12,327,149 (GRCm39) N1149D probably damaging Het
Or14j6 T A 17: 38,214,661 (GRCm39) S75T probably damaging Het
Or3a1b C A 11: 74,012,257 (GRCm39) S47R probably damaging Het
Or4k36 T C 2: 111,146,343 (GRCm39) V173A probably benign Het
Or5p79 A C 7: 108,221,817 (GRCm39) K266T possibly damaging Het
Osbp T C 19: 11,948,142 (GRCm39) S150P probably damaging Het
Paf1 T C 7: 28,096,247 (GRCm39) Y287H probably damaging Het
Pdgfrb T C 18: 61,201,174 (GRCm39) V420A probably benign Het
Pdss1 G T 2: 22,796,846 (GRCm39) E120* probably null Het
Pink1 A T 4: 138,044,630 (GRCm39) V339E probably damaging Het
Pkn3 C T 2: 29,969,663 (GRCm39) R58C probably damaging Het
Pm20d1 G A 1: 131,730,165 (GRCm39) V235I probably benign Het
Ppp2r2a A G 14: 67,276,412 (GRCm39) I31T probably damaging Het
Rbms3 T C 9: 116,651,894 (GRCm39) E152G probably damaging Het
Rfx1 A C 8: 84,821,677 (GRCm39) Q804H probably damaging Het
Rpe G T 1: 66,754,356 (GRCm39) V143L probably benign Het
Sap30l G T 11: 57,700,771 (GRCm39) V142L probably benign Het
Sh3tc1 T C 5: 35,863,268 (GRCm39) Q973R probably benign Het
Slc10a2 T C 8: 5,154,856 (GRCm39) T110A probably damaging Het
Snrnp200 A T 2: 127,060,947 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,948 (GRCm39) probably null Het
Spaca3 T A 11: 80,758,511 (GRCm39) V158E probably damaging Het
Sprtn C A 8: 125,629,770 (GRCm39) N354K probably benign Het
Stab1 T A 14: 30,863,101 (GRCm39) Y2166F possibly damaging Het
Tmem106c G A 15: 97,866,548 (GRCm39) probably null Het
Tnc A G 4: 63,918,168 (GRCm39) S1248P probably damaging Het
Tshr T C 12: 91,504,090 (GRCm39) F343L probably benign Het
Ttn C A 2: 76,555,698 (GRCm39) A30436S probably damaging Het
Ubxn2a A T 12: 4,935,839 (GRCm39) M68K probably benign Het
Urgcp C A 11: 5,667,242 (GRCm39) L365F probably damaging Het
Vezt A T 10: 93,826,026 (GRCm39) D328E probably damaging Het
Vmn1r168 G T 7: 23,240,184 (GRCm39) V14L probably benign Het
Vps13b T C 15: 35,792,205 (GRCm39) F2158L probably benign Het
Other mutations in Ucp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Ucp2 APN 7 100,147,629 (GRCm39) missense probably benign
IGL02184:Ucp2 APN 7 100,148,529 (GRCm39) missense probably benign
IGL02370:Ucp2 APN 7 100,147,591 (GRCm39) missense probably damaging 0.96
IGL02449:Ucp2 APN 7 100,148,017 (GRCm39) missense probably damaging 1.00
R1809:Ucp2 UTSW 7 100,147,606 (GRCm39) missense probably damaging 0.98
R2384:Ucp2 UTSW 7 100,147,461 (GRCm39) missense probably benign
R2508:Ucp2 UTSW 7 100,147,620 (GRCm39) missense probably benign
R2866:Ucp2 UTSW 7 100,146,459 (GRCm39) missense probably benign 0.31
R4400:Ucp2 UTSW 7 100,148,557 (GRCm39) makesense probably null
R5022:Ucp2 UTSW 7 100,147,579 (GRCm39) missense possibly damaging 0.74
R6073:Ucp2 UTSW 7 100,147,338 (GRCm39) missense possibly damaging 0.96
R6530:Ucp2 UTSW 7 100,147,430 (GRCm39) missense probably benign
R7381:Ucp2 UTSW 7 100,147,576 (GRCm39) missense possibly damaging 0.94
R7572:Ucp2 UTSW 7 100,146,514 (GRCm39) critical splice donor site probably null
R9377:Ucp2 UTSW 7 100,146,040 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACTTTGCACATAAACAGGCGAG -3'
(R):5'- AACTATGGGCTGTCTGACATTTG -3'

Sequencing Primer
(F):5'- CCCTAAGAGAGTCTAGCTGTAGTC -3'
(R):5'- GTCTGACATTTGGCTGCATC -3'
Posted On 2014-06-23