Incidental Mutation 'R1430:Aoc2'
ID 161495
Institutional Source Beutler Lab
Gene Symbol Aoc2
Ensembl Gene ENSMUSG00000078651
Gene Name amine oxidase copper containing 2
Synonyms
MMRRC Submission 039486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R1430 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101215889-101220528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101217321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 468 (Y468C)
Ref Sequence ENSEMBL: ENSMUSP00000102885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000019470] [ENSMUST00000041095] [ENSMUST00000103105] [ENSMUST00000107264]
AlphaFold Q812C9
Predicted Effect probably benign
Transcript: ENSMUST00000017316
SMART Domains Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326

DomainStartEndE-ValueType
Pfam:Cu_amine_oxidN2 23 109 4.3e-24 PFAM
Pfam:Cu_amine_oxidN3 126 226 1.4e-28 PFAM
Pfam:Cu_amine_oxid 251 444 4.2e-51 PFAM
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: Y468C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: Y468C

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: Y468C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: Y468C

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 0.9501 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Cdyl2 A G 8: 117,306,056 (GRCm39) probably benign Het
Cfh A G 1: 140,030,436 (GRCm39) probably benign Het
Cyp2j9 G T 4: 96,472,201 (GRCm39) probably benign Het
Dapk1 T G 13: 60,901,957 (GRCm39) F929V probably benign Het
Dhx9 A T 1: 153,359,493 (GRCm39) M35K probably benign Het
Dnah5 G A 15: 28,346,003 (GRCm39) E2448K probably benign Het
Doc2b A T 11: 75,670,981 (GRCm39) C217S possibly damaging Het
Dock11 A G X: 35,333,565 (GRCm39) I2010V probably benign Het
Dram1 T C 10: 88,160,641 (GRCm39) T227A possibly damaging Het
Eppin G A 2: 164,431,323 (GRCm39) T101M probably damaging Het
F13a1 T C 13: 37,082,105 (GRCm39) D533G probably damaging Het
Fmo1 C A 1: 162,667,293 (GRCm39) R174L probably damaging Het
Fsip2 C A 2: 82,828,407 (GRCm39) L6735I possibly damaging Het
Gab1 G T 8: 81,515,241 (GRCm39) T359K probably benign Het
Ggta1 T C 2: 35,298,029 (GRCm39) D118G possibly damaging Het
Gramd1a A G 7: 30,832,211 (GRCm39) S609P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrrc24 G T 15: 76,607,992 (GRCm39) probably null Het
Mak C A 13: 41,223,760 (GRCm39) probably benign Het
Megf8 G A 7: 25,063,768 (GRCm39) R2708Q possibly damaging Het
Mettl24 T C 10: 40,613,791 (GRCm39) C177R probably damaging Het
Mgam G C 6: 40,733,305 (GRCm39) E812D probably benign Het
Mroh8 T C 2: 157,111,445 (GRCm39) R170G possibly damaging Het
Msn G A X: 95,196,325 (GRCm39) V130I probably benign Het
Ncoa4 G A 14: 31,898,679 (GRCm39) V500I probably benign Het
Or2aj5 A G 16: 19,424,752 (GRCm39) L222P probably damaging Het
Or2y1b A G 11: 49,208,928 (GRCm39) probably null Het
Or5an6 C T 19: 12,371,801 (GRCm39) T58I probably benign Het
Or8k3b T C 2: 86,520,866 (GRCm39) Y151C possibly damaging Het
Ppm1h T C 10: 122,693,004 (GRCm39) S302P probably damaging Het
Prkce T A 17: 86,866,565 (GRCm39) probably benign Het
Psenen T C 7: 30,261,815 (GRCm39) I34V probably benign Het
Rbl1 T C 2: 157,011,826 (GRCm39) T710A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc1a5 A G 7: 16,516,328 (GRCm39) D168G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Syce1 A T 7: 140,359,351 (GRCm39) probably benign Het
Tbc1d23 G T 16: 57,034,573 (GRCm39) D75E probably damaging Het
Tbk1 A G 10: 121,395,839 (GRCm39) V418A probably benign Het
Tmem132e T C 11: 82,329,122 (GRCm39) V467A probably damaging Het
Tmem241 T C 18: 12,126,651 (GRCm39) D144G probably benign Het
Tsc2 A G 17: 24,817,997 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,617 (GRCm39) F420I probably benign Het
Usp34 A G 11: 23,409,151 (GRCm39) T2645A probably damaging Het
Utp14b A G 1: 78,644,111 (GRCm39) K670E probably benign Het
Zfp407 C T 18: 84,227,580 (GRCm39) V2010M probably benign Het
Zfp879 A G 11: 50,724,784 (GRCm39) F91L probably benign Het
Zfyve26 A G 12: 79,329,591 (GRCm39) S532P probably benign 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
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
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 PCR Primer
(F):5'- GGATTGCCCCTATCAAGCCACAATG -3'
(R):5'- CCTTCAAGGCTCAGGCTAAGAACTC -3'

Sequencing Primer
(F):5'- CAATGGTGGACATCCATGTACTG -3'
(R):5'- GCTACATCAAGGTCCAGTTTG -3'
Posted On 2014-03-14