Incidental Mutation 'R5022:Ucp2'
ID 389252
Institutional Source Beutler Lab
Gene Symbol Ucp2
Ensembl Gene ENSMUSG00000033685
Gene Name uncoupling protein 2 (mitochondrial, proton carrier)
MMRRC Submission 042613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5022 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100493337-100502020 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100498372 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 186 (N186I)
Ref Sequence ENSEMBL: ENSMUSP00000146337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126534] [ENSMUST00000129324] [ENSMUST00000133044] [ENSMUST00000153287] [ENSMUST00000154516] [ENSMUST00000207405] [ENSMUST00000207748]
AlphaFold P70406
Predicted Effect probably benign
Transcript: ENSMUST00000054923
SMART Domains Protein: ENSMUSP00000059074
Gene: ENSMUSG00000030708

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: N186I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120967
Gene: ENSMUSG00000033685
AA Change: N186I

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

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

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 noncoding transcript
Transcript: ENSMUST00000151221
Predicted Effect probably benign
Transcript: ENSMUST00000153287
SMART Domains Protein: ENSMUSP00000115953
Gene: ENSMUSG00000033685

Pfam:Mito_carr 9 111 6.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154516
Predicted Effect probably benign
Transcript: ENSMUST00000207405
Predicted Effect possibly damaging
Transcript: ENSMUST00000207748
AA Change: N186I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207890
Meta Mutation Damage Score 0.4584 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 99% (110/111)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 TCGACTGC T 4: 53,041,570 (GRCm38) probably null Het
Abca15 T C 7: 120,346,096 (GRCm38) I465T probably damaging Het
Abca3 C T 17: 24,374,300 (GRCm38) R224C probably damaging Het
Abcb4 T A 5: 8,909,054 (GRCm38) probably null Het
Acan T C 7: 79,092,808 (GRCm38) probably null Het
Aebp2 G A 6: 140,637,730 (GRCm38) R109Q possibly damaging Het
Agfg2 A T 5: 137,660,160 (GRCm38) probably null Het
Ankib1 T A 5: 3,734,011 (GRCm38) I322F possibly damaging Het
AW551984 A T 9: 39,597,965 (GRCm38) N293K probably benign Het
BC028528 T A 3: 95,888,823 (GRCm38) probably benign Het
Bicc1 A G 10: 70,947,883 (GRCm38) S393P possibly damaging Het
Birc6 A G 17: 74,692,332 (GRCm38) Y4656C probably damaging Het
Bmp3 A G 5: 98,872,824 (GRCm38) R369G probably damaging Het
C1d T A 11: 17,266,674 (GRCm38) N135K probably benign Het
Ccdc148 G A 2: 58,827,632 (GRCm38) A453V probably damaging Het
Cd163 C T 6: 124,325,288 (GRCm38) T937I probably damaging Het
Celf2 C T 2: 6,607,847 (GRCm38) probably benign Het
Chga T C 12: 102,562,837 (GRCm38) W358R probably damaging Het
Clec4b2 A T 6: 123,200,956 (GRCm38) S77C probably null Het
Crim1 T C 17: 78,280,129 (GRCm38) V221A possibly damaging Het
D630003M21Rik A T 2: 158,217,633 (GRCm38) S116T probably damaging Het
Dlg5 T C 14: 24,136,622 (GRCm38) E1847G probably damaging Het
Dmxl1 T A 18: 49,895,127 (GRCm38) I2206K probably damaging Het
Dusp7 T A 9: 106,373,741 (GRCm38) L355Q probably damaging Het
Eif1ad15 T C 12: 88,321,301 (GRCm38) I61V probably benign Het
Eif1ad16 A T 12: 88,018,711 (GRCm38) S21T unknown Het
Exd2 T A 12: 80,496,790 (GRCm38) N582K probably damaging Het
Fbln1 G A 15: 85,237,626 (GRCm38) S316N probably damaging Het
Fchsd1 A G 18: 37,964,810 (GRCm38) I340T possibly damaging Het
Fn1 T C 1: 71,624,179 (GRCm38) Y1050C probably damaging Het
Fsip2 A G 2: 82,979,429 (GRCm38) I2031V probably benign Het
Gm10803 A C 2: 93,564,172 (GRCm38) L96F probably damaging Het
Gm14569 T C X: 36,430,817 (GRCm38) D1413G probably benign Het
Gm15455 T C 1: 33,837,351 (GRCm38) noncoding transcript Het
Gm1818 G C 12: 48,555,535 (GRCm38) noncoding transcript Het
Gm5420 A T 10: 21,691,727 (GRCm38) noncoding transcript Het
Gm7104 A T 12: 88,285,759 (GRCm38) noncoding transcript Het
Gp2 A G 7: 119,449,114 (GRCm38) I427T probably damaging Het
Gpc4 G A X: 52,074,563 (GRCm38) R148C probably damaging Het
Gpr142 A C 11: 114,804,388 (GRCm38) S60R probably benign Het
Helz2 T C 2: 181,240,569 (GRCm38) R144G probably benign Het
Herc1 A T 9: 66,470,326 (GRCm38) K3458M possibly damaging Het
Hnf4g G T 3: 3,644,587 (GRCm38) A144S probably damaging Het
Irs2 A C 8: 10,987,012 (GRCm38) *1322G probably null Het
Keg1 A G 19: 12,719,157 (GRCm38) N288S probably damaging Het
Kif19a G A 11: 114,767,227 (GRCm38) M37I probably benign Het
Klhl1 G A 14: 96,136,706 (GRCm38) P635S probably benign Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Lsm11 T C 11: 45,944,839 (GRCm38) D25G probably damaging Het
Manea A T 4: 26,336,630 (GRCm38) Y215* probably null Het
Mdga2 C T 12: 66,470,760 (GRCm38) C100Y possibly damaging Het
Mthfd1 T G 12: 76,294,374 (GRCm38) V480G probably damaging Het
Mthfd1 T A 12: 76,301,328 (GRCm38) M582K probably damaging Het
Myh7b G C 2: 155,632,373 (GRCm38) R1669S possibly damaging Het
Nanos1 T C 19: 60,756,980 (GRCm38) Y239H probably damaging Het
Nat8 G A 6: 85,830,857 (GRCm38) T98I possibly damaging Het
Ndufs3 C A 2: 90,898,660 (GRCm38) A161S probably benign Het
Nexmif A T X: 104,087,350 (GRCm38) N320K probably damaging Het
Or10h1 T C 17: 33,199,777 (GRCm38) F239S probably damaging Het
Or2m12 A T 16: 19,286,059 (GRCm38) V228D probably damaging Het
Or2r3 A T 6: 42,471,287 (GRCm38) V297E possibly damaging Het
Or4c111 A G 2: 89,014,043 (GRCm38) V7A probably damaging Het
Or4c122 C T 2: 89,249,417 (GRCm38) M92I probably benign Het
Or4k15 T C 14: 50,127,012 (GRCm38) V145A possibly damaging Het
Or52e2 G A 7: 103,155,735 (GRCm38) P4L probably benign Het
Or6c69c T C 10: 130,074,593 (GRCm38) L61P probably damaging Het
Pcdhb14 T A 18: 37,450,170 (GRCm38) N776K probably benign Het
Pip5k1c G A 10: 81,310,889 (GRCm38) probably null Het
Plk4 G A 3: 40,802,077 (GRCm38) probably null Het
Prmt8 A G 6: 127,711,163 (GRCm38) Y231H possibly damaging Het
Prpf4b T C 13: 34,883,599 (GRCm38) probably benign Het
Ptpn21 G A 12: 98,679,407 (GRCm38) R1091C probably damaging Het
Pwwp2b C T 7: 139,255,578 (GRCm38) P312S possibly damaging Het
Rad21 A T 15: 51,966,706 (GRCm38) I503K probably benign Het
Rai14 A G 15: 10,574,506 (GRCm38) S789P probably damaging Het
Rbm26 C T 14: 105,144,252 (GRCm38) D486N probably damaging Het
Rnf20 A G 4: 49,642,016 (GRCm38) probably benign Het
Ros1 A G 10: 52,124,075 (GRCm38) V1118A possibly damaging Het
Sema3d A C 5: 12,584,956 (GRCm38) Y663S probably damaging Het
Serpina6 A G 12: 103,651,712 (GRCm38) W281R probably damaging Het
Slc8a3 A G 12: 81,199,558 (GRCm38) V900A probably damaging Het
Spats2l G T 1: 57,879,556 (GRCm38) V30L probably damaging Het
Spg21 A G 9: 65,475,949 (GRCm38) D139G probably damaging Het
Sun3 T C 11: 9,038,314 (GRCm38) T3A probably damaging Het
Tep1 A G 14: 50,828,999 (GRCm38) Y2335H probably benign Het
Tesl1 G A X: 23,907,241 (GRCm38) G327E probably damaging Het
Timd5 T A 11: 46,528,532 (GRCm38) D58E probably damaging Het
Timm21 C A 18: 84,949,414 (GRCm38) V112L possibly damaging Het
Tlk1 A T 2: 70,742,065 (GRCm38) N386K probably benign Het
Trappc10 G T 10: 78,217,160 (GRCm38) F260L possibly damaging Het
Trgv1 T A 13: 19,340,231 (GRCm38) S42T probably benign Het
Trmt112 T C 19: 6,910,753 (GRCm38) V91A probably benign Het
Vmn1r119 A G 7: 21,012,320 (GRCm38) S46P probably benign Het
Vmn2r101 A T 17: 19,611,387 (GRCm38) probably null Het
Vmn2r105 T A 17: 20,208,414 (GRCm38) H800L probably damaging Het
Vmn2r69 T C 7: 85,411,159 (GRCm38) M406V possibly damaging Het
Vmn2r84 A G 10: 130,386,548 (GRCm38) L601P probably damaging Het
Vps16 A G 2: 130,439,452 (GRCm38) S235G probably benign Het
Wap T C 11: 6,637,339 (GRCm38) probably benign Het
Wdr11 A G 7: 129,624,711 (GRCm38) I744M probably benign Het
Xiap T C X: 42,094,465 (GRCm38) F23L probably benign Het
Xkr7 A G 2: 153,054,380 (GRCm38) T385A probably benign Het
Zfp524 A T 7: 5,018,417 (GRCm38) I315F probably benign Het
Zfp62 T A 11: 49,215,729 (GRCm38) S216T probably damaging Het
Znfx1 T C 2: 167,039,826 (GRCm38) Y217C probably damaging Het
Other mutations in Ucp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Ucp2 APN 7 100,498,422 (GRCm38) missense probably benign
IGL02184:Ucp2 APN 7 100,499,322 (GRCm38) missense probably benign
IGL02370:Ucp2 APN 7 100,498,384 (GRCm38) missense probably damaging 0.96
IGL02449:Ucp2 APN 7 100,498,810 (GRCm38) missense probably damaging 1.00
R1808:Ucp2 UTSW 7 100,498,814 (GRCm38) missense probably damaging 0.97
R1809:Ucp2 UTSW 7 100,498,399 (GRCm38) missense probably damaging 0.98
R2384:Ucp2 UTSW 7 100,498,254 (GRCm38) missense probably benign
R2508:Ucp2 UTSW 7 100,498,413 (GRCm38) missense probably benign
R2866:Ucp2 UTSW 7 100,497,252 (GRCm38) missense probably benign 0.31
R4400:Ucp2 UTSW 7 100,499,350 (GRCm38) makesense probably null
R6073:Ucp2 UTSW 7 100,498,131 (GRCm38) missense possibly damaging 0.96
R6530:Ucp2 UTSW 7 100,498,223 (GRCm38) missense probably benign
R7381:Ucp2 UTSW 7 100,498,369 (GRCm38) missense possibly damaging 0.94
R7572:Ucp2 UTSW 7 100,497,307 (GRCm38) critical splice donor site probably null
R9377:Ucp2 UTSW 7 100,496,833 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06