Incidental Mutation 'IGL00953:Ucp2'
ID 27870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ucp2
Ensembl Gene ENSMUSG00000033685
Gene Name uncoupling protein 2 (mitochondrial, proton carrier)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL00953
Quality Score
Status
Chromosome 7
Chromosomal Location 100142565-100148832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100147629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000146337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126534] [ENSMUST00000129324] [ENSMUST00000133044] [ENSMUST00000207748] [ENSMUST00000207405] [ENSMUST00000154516] [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 probably benign
Transcript: ENSMUST00000126534
AA Change: T203A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120967
Gene: ENSMUSG00000033685
AA Change: T203A

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 noncoding transcript
Transcript: ENSMUST00000133498
Predicted Effect probably benign
Transcript: ENSMUST00000207748
AA Change: T203A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138673
Predicted Effect probably benign
Transcript: ENSMUST00000207405
Predicted Effect probably benign
Transcript: ENSMUST00000154516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151221
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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,902,047 (GRCm39) E726G probably benign Het
Cdyl2 T A 8: 117,321,928 (GRCm39) probably benign Het
Cep41 T C 6: 30,660,966 (GRCm39) T109A probably benign Het
Clca3b C T 3: 144,552,972 (GRCm39) W84* probably null Het
Cyp27b1 A G 10: 126,885,551 (GRCm39) D130G probably benign Het
Cyp2f2 T C 7: 26,829,242 (GRCm39) V249A possibly damaging Het
Cyth3 G A 5: 143,692,920 (GRCm39) probably null Het
Dnah8 G T 17: 30,925,431 (GRCm39) E1289* probably null Het
Fam171a1 A T 2: 3,179,327 (GRCm39) D51V possibly damaging Het
Farp2 A G 1: 93,488,896 (GRCm39) R107G possibly damaging Het
Gemin6 T C 17: 80,535,294 (GRCm39) F85L possibly damaging Het
Hivep3 A C 4: 119,955,571 (GRCm39) T1296P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Htt T A 5: 34,976,021 (GRCm39) S670T probably benign Het
Klhl24 A T 16: 19,941,717 (GRCm39) N555I possibly damaging Het
Limd1 T A 9: 123,308,948 (GRCm39) S216T probably benign Het
Lmf2 A T 15: 89,238,102 (GRCm39) I234N probably damaging Het
Mrpl4 C A 9: 20,919,863 (GRCm39) D271E probably benign Het
Mydgf C T 17: 56,486,407 (GRCm39) G75R probably damaging Het
Nat1 A G 8: 67,943,630 (GRCm39) D5G possibly damaging Het
Or2t46 T C 11: 58,472,636 (GRCm39) V322A probably benign Het
Or5h22 A T 16: 58,895,052 (GRCm39) Y130* probably null Het
Or5k15 A C 16: 58,710,048 (GRCm39) H178Q probably damaging Het
Pla2g4c T A 7: 13,077,951 (GRCm39) M363K probably benign Het
Prex1 A G 2: 166,480,329 (GRCm39) F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 (GRCm39) D670G probably damaging Het
Rrp12 C A 19: 41,860,231 (GRCm39) M997I possibly damaging Het
Scn3a A G 2: 65,327,736 (GRCm39) V918A probably benign Het
Slc35g2 A G 9: 100,434,516 (GRCm39) V385A probably damaging Het
Slit1 A T 19: 41,590,739 (GRCm39) I1311N probably damaging Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Upk1b C T 16: 38,600,347 (GRCm39) G211D possibly damaging Het
Vmn1r220 A T 13: 23,367,935 (GRCm39) F254I probably benign Het
Zcchc4 T C 5: 52,965,638 (GRCm39) F314S probably damaging Het
Other mutations in Ucp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17