Incidental Mutation 'R6032:Aoc2'
ID 480464
Institutional Source Beutler Lab
Gene Symbol Aoc2
Ensembl Gene ENSMUSG00000078651
Gene Name amine oxidase copper containing 2
Synonyms
MMRRC Submission 044204-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R6032 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101215889-101220528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101216627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 237 (V237M)
Ref Sequence ENSEMBL: ENSMUSP00000040255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019470] [ENSMUST00000041095] [ENSMUST00000103105] [ENSMUST00000107264]
AlphaFold Q812C9
Predicted Effect probably benign
Transcript: ENSMUST00000019470
SMART Domains Protein: ENSMUSP00000019470
Gene: ENSMUSG00000078652

DomainStartEndE-ValueType
Pfam:PA28_alpha 9 69 2.9e-30 PFAM
Pfam:PA28_beta 108 252 3e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041095
AA Change: V237M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: V237M

DomainStartEndE-ValueType
transmembrane domain 5 26 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 62 148 1.7e-29 PFAM
Pfam:Cu_amine_oxidN3 165 263 5.7e-22 PFAM
Pfam:Cu_amine_oxid 309 718 3.7e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103105
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 66 152 1.7e-29 PFAM
Pfam:Cu_amine_oxidN3 169 269 1.5e-31 PFAM
low complexity region 284 298 N/A INTRINSIC
Pfam:Cu_amine_oxid 314 721 5.3e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107264
AA Change: V237M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: V237M

DomainStartEndE-ValueType
transmembrane domain 5 26 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 62 148 8.2e-24 PFAM
Pfam:Cu_amine_oxidN3 165 263 9.9e-20 PFAM
Pfam:Cu_amine_oxid 308 605 5.9e-86 PFAM
Pfam:Cu_amine_oxid 600 694 7.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131170
Meta Mutation Damage Score 0.1432 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.0%
  • 20x: 85.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2ml1 T A 6: 128,526,799 (GRCm39) K1071* probably null Het
Abca13 G T 11: 9,247,752 (GRCm39) V2500F possibly damaging Het
Adamdec1 T C 14: 68,816,633 (GRCm39) E85G probably damaging Het
Aldh8a1 T C 10: 21,264,970 (GRCm39) V199A probably benign Het
Aplp2 C T 9: 31,062,240 (GRCm39) R672H probably damaging Het
Apob A G 12: 8,045,513 (GRCm39) N886S probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atp6v1a T C 16: 43,927,303 (GRCm39) Y328C probably damaging Het
Bag4 T C 8: 26,267,521 (GRCm39) Y103C probably damaging Het
Crem C T 18: 3,267,673 (GRCm39) R190Q probably damaging Het
Crybg1 A G 10: 43,832,756 (GRCm39) S2000P probably damaging Het
Cubn T A 2: 13,329,995 (GRCm39) T2629S probably benign Het
Cyp3a44 G T 5: 145,714,756 (GRCm39) S465Y probably damaging Het
Daam2 A C 17: 49,793,525 (GRCm39) F331V probably damaging Het
Dnajc3 T C 14: 119,205,443 (GRCm39) S146P possibly damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fam184b G A 5: 45,740,238 (GRCm39) S316L probably benign Het
Fat2 G C 11: 55,144,760 (GRCm39) T4038S probably damaging Het
Fbxl19 C T 7: 127,360,437 (GRCm39) R439C probably damaging Het
Gm3454 T A 15: 75,183,448 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,617 (GRCm39) E284G probably benign Het
Grm1 A T 10: 10,595,549 (GRCm39) I693N probably damaging Het
Gsdme T A 6: 50,222,934 (GRCm39) Q127L probably damaging Het
Ifnlr1 A G 4: 135,432,937 (GRCm39) K458E probably benign Het
Kcns2 T C 15: 34,839,080 (GRCm39) F148L probably benign Het
Lama1 A G 17: 68,057,638 (GRCm39) T571A probably benign Het
Loxhd1 G A 18: 77,469,254 (GRCm39) V108M probably damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Ncor1 A T 11: 62,264,147 (GRCm39) D144E possibly damaging Het
Nos3 A T 5: 24,584,809 (GRCm39) T738S probably benign Het
Nrxn2 A T 19: 6,567,162 (GRCm39) T1353S probably damaging Het
Or2b7 G T 13: 21,740,077 (GRCm39) S38R probably benign Het
Or4f4b T C 2: 111,314,195 (GRCm39) L140P probably damaging Het
Or8g17 A G 9: 38,930,261 (GRCm39) I192T probably benign Het
Pfpl A G 19: 12,406,747 (GRCm39) T333A probably damaging Het
Postn A T 3: 54,284,137 (GRCm39) I565F possibly damaging Het
Ppef2 A G 5: 92,378,383 (GRCm39) V604A probably benign Het
Pramel13 A C 4: 144,119,598 (GRCm39) I323S possibly damaging Het
Rel A G 11: 23,692,684 (GRCm39) S450P probably benign Het
Rpap2 A C 5: 107,745,661 (GRCm39) D3A probably damaging Het
Shisa9 T C 16: 11,802,772 (GRCm39) F110L possibly damaging Het
Slc25a10 A T 11: 120,385,784 (GRCm39) probably null Het
Slx4 A T 16: 3,798,021 (GRCm39) F1454L probably damaging Het
Smc1b A T 15: 84,950,430 (GRCm39) V1198D possibly damaging Het
Supt5 T C 7: 28,015,600 (GRCm39) Y879C probably damaging Het
Tbx15 T C 3: 99,259,833 (GRCm39) M568T probably benign Het
Tle4 T C 19: 14,429,472 (GRCm39) H698R possibly damaging Het
Trappc9 T C 15: 72,797,379 (GRCm39) N803D probably benign Het
Trim10 A T 17: 37,182,606 (GRCm39) R157S possibly damaging Het
Wsb1 T C 11: 79,131,025 (GRCm39) probably benign Het
Zfp106 T C 2: 120,365,874 (GRCm39) S178G probably benign Het
Zftraf1 C T 15: 76,543,058 (GRCm39) R34Q probably damaging Het
Other mutations in Aoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01900:Aoc2 APN 11 101,219,649 (GRCm39) missense probably damaging 1.00
IGL02340:Aoc2 APN 11 101,217,201 (GRCm39) missense probably damaging 1.00
IGL02382:Aoc2 APN 11 101,217,498 (GRCm39) missense probably damaging 1.00
R0063:Aoc2 UTSW 11 101,216,897 (GRCm39) missense probably damaging 1.00
R0063:Aoc2 UTSW 11 101,216,897 (GRCm39) missense probably damaging 1.00
R0398:Aoc2 UTSW 11 101,216,379 (GRCm39) missense possibly damaging 0.56
R1430:Aoc2 UTSW 11 101,217,321 (GRCm39) missense probably damaging 1.00
R1681:Aoc2 UTSW 11 101,216,018 (GRCm39) missense probably benign
R3157:Aoc2 UTSW 11 101,220,102 (GRCm39) missense probably damaging 1.00
R3158:Aoc2 UTSW 11 101,220,102 (GRCm39) missense probably damaging 1.00
R4159:Aoc2 UTSW 11 101,216,122 (GRCm39) missense probably damaging 0.98
R4747:Aoc2 UTSW 11 101,219,646 (GRCm39) critical splice acceptor site probably null
R5120:Aoc2 UTSW 11 101,216,540 (GRCm39) missense probably benign 0.00
R5902:Aoc2 UTSW 11 101,220,072 (GRCm39) missense probably damaging 1.00
R6032:Aoc2 UTSW 11 101,216,627 (GRCm39) missense probably damaging 1.00
R6317:Aoc2 UTSW 11 101,216,292 (GRCm39) missense probably damaging 1.00
R6778:Aoc2 UTSW 11 101,216,187 (GRCm39) missense probably damaging 0.99
R7323:Aoc2 UTSW 11 101,219,371 (GRCm39) missense probably damaging 1.00
R7491:Aoc2 UTSW 11 101,219,203 (GRCm39) missense probably benign 0.14
R7584:Aoc2 UTSW 11 101,217,005 (GRCm39) missense possibly damaging 0.50
R9019:Aoc2 UTSW 11 101,216,262 (GRCm39) missense possibly damaging 0.69
R9098:Aoc2 UTSW 11 101,217,164 (GRCm39) missense possibly damaging 0.58
Z1176:Aoc2 UTSW 11 101,217,246 (GRCm39) missense probably benign 0.05
Predicted Primers
Posted On 2017-06-26