Incidental Mutation 'R2866:Ucp2'
ID 253248
Institutional Source Beutler Lab
Gene Symbol Ucp2
Ensembl Gene ENSMUSG00000033685
Gene Name uncoupling protein 2 (mitochondrial, proton carrier)
Synonyms
MMRRC Submission 040455-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R2866 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 100142565-100148832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100146459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 95 (V95A)
Ref Sequence ENSEMBL: ENSMUSP00000115953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126534] [ENSMUST00000129324] [ENSMUST00000133044] [ENSMUST00000153287] [ENSMUST00000207748] [ENSMUST00000207405]
AlphaFold P70406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126381
Predicted Effect probably benign
Transcript: ENSMUST00000126534
AA Change: V95A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120967
Gene: ENSMUSG00000033685
AA Change: V95A

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 probably benign
Transcript: ENSMUST00000133044
AA Change: V95A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115598
Gene: ENSMUSG00000033685
AA Change: V95A

DomainStartEndE-ValueType
Pfam:Mito_carr 9 111 2.6e-23 PFAM
Pfam:Mito_carr 112 172 1.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149808
Predicted Effect probably benign
Transcript: ENSMUST00000153287
AA Change: V95A

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115953
Gene: ENSMUSG00000033685
AA Change: V95A

DomainStartEndE-ValueType
Pfam:Mito_carr 9 111 6.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207748
AA Change: V95A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207890
Predicted Effect probably benign
Transcript: ENSMUST00000207405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151221
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atmin T A 8: 117,683,112 (GRCm39) D257E probably benign Het
Best1 T C 19: 9,963,585 (GRCm39) E532G probably benign Het
Cenpj T C 14: 56,789,637 (GRCm39) H804R probably benign Het
Clec2g T C 6: 128,925,719 (GRCm39) S43P probably benign Het
Col8a2 A G 4: 126,204,992 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Csmd2 T C 4: 128,308,185 (GRCm39) probably null Het
Ctss A G 3: 95,452,717 (GRCm39) K166R probably benign Het
Cyp2c23 T C 19: 43,993,885 (GRCm39) R494G probably damaging Het
Cyp2c68 A G 19: 39,677,589 (GRCm39) I467T probably damaging Het
Dcaf11 A T 14: 55,803,202 (GRCm39) T299S possibly damaging Het
Dennd1b A G 1: 139,098,019 (GRCm39) S762G possibly damaging Het
Epb42 C T 2: 120,856,402 (GRCm39) A381T possibly damaging Het
Fhad1 A G 4: 141,648,099 (GRCm39) Y256H probably benign Het
Gfra1 C T 19: 58,227,739 (GRCm39) A395T possibly damaging Het
Gm10323 C A 13: 67,002,574 (GRCm39) C55F probably benign Het
Greb1 T C 12: 16,749,551 (GRCm39) S1092G probably damaging Het
Grid1 A T 14: 35,284,516 (GRCm39) D753V probably damaging Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lcat C T 8: 106,666,511 (GRCm39) C337Y probably damaging Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mroh7 C T 4: 106,548,287 (GRCm39) G1064R probably damaging Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Or10h5 T A 17: 33,435,252 (GRCm39) H22L probably benign Het
Or51ah3 A T 7: 103,210,064 (GRCm39) I127F probably damaging Het
Or5p5 T A 7: 107,414,126 (GRCm39) C112S probably benign Het
Or8k39 A T 2: 86,563,773 (GRCm39) F61Y possibly damaging Het
Polr1has A T 17: 37,276,052 (GRCm39) R211S possibly damaging Het
Psg27 T A 7: 18,295,818 (GRCm39) D209V probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Pzp A G 6: 128,502,227 (GRCm39) S41P possibly damaging Het
Rab23 A T 1: 33,777,376 (GRCm39) K163N possibly damaging Het
Rilpl2 T C 5: 124,615,898 (GRCm39) D84G probably damaging Het
Sorl1 A G 9: 41,881,077 (GRCm39) I2148T probably benign Het
Tead1 A G 7: 112,358,694 (GRCm39) E2G probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Tmprss15 T A 16: 78,832,121 (GRCm39) D345V possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Usp17lb T C 7: 104,489,955 (GRCm39) D323G probably damaging Het
Zfp677 A T 17: 21,617,518 (GRCm39) K192* probably null Het
Zmym2 T A 14: 57,165,705 (GRCm39) I676K probably damaging 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
R1808:Ucp2 UTSW 7 100,148,021 (GRCm39) missense probably damaging 0.97
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
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'- AGATCAGCAGAGCCATCTCC -3'
(R):5'- GACCATCATGGGCTCACATC -3'

Sequencing Primer
(F):5'- AGCAGAGCCATCTCCCTGTG -3'
(R):5'- AGCCCTGGTGCTCAGATAACAG -3'
Posted On 2014-12-04