Incidental Mutation 'R0398:Aoc2'
ID 32146
Institutional Source Beutler Lab
Gene Symbol Aoc2
Ensembl Gene ENSMUSG00000078651
Gene Name amine oxidase copper containing 2
Synonyms
MMRRC Submission 038603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R0398 (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 101216379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 154 (E154G)
Ref Sequence ENSEMBL: ENSMUSP00000102885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019470] [ENSMUST00000041095] [ENSMUST00000107264] [ENSMUST00000151385]
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 benign
Transcript: ENSMUST00000041095
AA Change: E154G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: E154G

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 possibly damaging
Transcript: ENSMUST00000107264
AA Change: E154G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: E154G

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
Predicted Effect probably benign
Transcript: ENSMUST00000151385
SMART Domains Protein: ENSMUSP00000116996
Gene: ENSMUSG00000078652

DomainStartEndE-ValueType
Pfam:PA28_alpha 17 81 1.5e-32 PFAM
Pfam:PA28_beta 116 203 5.6e-40 PFAM
Meta Mutation Damage Score 0.1724 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 83.2%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,117,010 (GRCm39) Q546R probably null Het
Acr T G 15: 89,458,144 (GRCm39) V275G probably damaging Het
Adam5 A G 8: 25,303,448 (GRCm39) Y160H probably benign Het
Adcy5 T A 16: 35,089,438 (GRCm39) M545K probably damaging Het
Atg2a T G 19: 6,296,608 (GRCm39) L338R probably damaging Het
Atp2a1 T C 7: 126,049,590 (GRCm39) probably benign Het
Bbs7 A G 3: 36,644,866 (GRCm39) S436P probably benign Het
Bpnt1 T C 1: 185,070,355 (GRCm39) Y16H probably benign Het
Cbll1 A T 12: 31,542,091 (GRCm39) F90Y probably damaging Het
Cbs G T 17: 31,836,216 (GRCm39) Q411K probably benign Het
Cdca2 A C 14: 67,935,411 (GRCm39) F435V probably damaging Het
Cdh13 T G 8: 120,040,786 (GRCm39) S664A probably damaging Het
Cdk17 T A 10: 93,073,702 (GRCm39) V438E probably benign Het
Cep295 T C 9: 15,266,032 (GRCm39) D40G possibly damaging Het
Col6a1 T C 10: 76,545,952 (GRCm39) H840R unknown Het
Cpa1 A G 6: 30,645,250 (GRCm39) T409A probably benign Het
Crlf1 G A 8: 70,951,739 (GRCm39) probably benign Het
E2f2 T A 4: 135,907,855 (GRCm39) I184N probably damaging Het
Ehbp1 T C 11: 22,045,886 (GRCm39) D596G probably damaging Het
Elapor2 A G 5: 9,495,367 (GRCm39) R724G probably benign Het
Ets2 A G 16: 95,517,267 (GRCm39) Y333C probably damaging Het
Fam178b A G 1: 36,671,487 (GRCm39) probably benign Het
Fndc3b A G 3: 27,515,928 (GRCm39) V626A probably benign Het
Gart G T 16: 91,436,337 (GRCm39) A140E probably damaging Het
Gbp7 T C 3: 142,251,274 (GRCm39) S477P possibly damaging Het
Gm16380 T C 9: 53,791,453 (GRCm39) noncoding transcript Het
Hmcn1 C A 1: 150,674,565 (GRCm39) R579M possibly damaging Het
Hoxb8 A C 11: 96,173,937 (GRCm39) H50P probably damaging Het
Hspa4 C T 11: 53,163,706 (GRCm39) probably null Het
Hspa4l G A 3: 40,711,429 (GRCm39) probably benign Het
Hyal4 A T 6: 24,756,670 (GRCm39) Y296F probably damaging Het
Igsf8 C A 1: 172,145,066 (GRCm39) T131K probably damaging Het
Ilvbl C T 10: 78,415,373 (GRCm39) P298L probably damaging Het
Jak2 T A 19: 29,259,788 (GRCm39) I229N possibly damaging Het
Kif1b T C 4: 149,288,688 (GRCm39) D1205G possibly damaging Het
Lrrc63 T C 14: 75,363,910 (GRCm39) R74G probably benign Het
Lvrn A G 18: 47,013,760 (GRCm39) T481A probably benign Het
Macf1 T A 4: 123,244,810 (GRCm39) T7312S probably damaging Het
Magel2 C T 7: 62,030,299 (GRCm39) Q1068* probably null Het
Mrpl3 A G 9: 104,941,302 (GRCm39) Y203C probably damaging Het
Nek2 T A 1: 191,559,473 (GRCm39) I326N probably benign Het
Nlrc4 A C 17: 74,752,915 (GRCm39) N489K probably damaging Het
Nlrp4f A T 13: 65,342,732 (GRCm39) S304R possibly damaging Het
Ogfr C G 2: 180,235,492 (GRCm39) R189G probably damaging Het
Or52b4i T A 7: 102,191,899 (GRCm39) L252H probably damaging Het
Or5p78 T A 7: 108,212,162 (GRCm39) I216N probably benign Het
Or5w8 A T 2: 87,688,401 (GRCm39) N294I probably damaging Het
Orm3 A G 4: 63,275,885 (GRCm39) S145G probably benign Het
Pclo A G 5: 14,731,716 (GRCm39) E3406G unknown Het
Pcx T G 19: 4,651,638 (GRCm39) F4C probably benign Het
Pgd C A 4: 149,238,339 (GRCm39) G364V probably damaging Het
Pla2g12a C A 3: 129,684,045 (GRCm39) D102E probably benign Het
Pnpo A T 11: 96,833,253 (GRCm39) C82* probably null Het
Prdm1 T C 10: 44,315,805 (GRCm39) N792S probably damaging Het
Prim2 A T 1: 33,523,757 (GRCm39) probably benign Het
Proca1 C A 11: 78,096,094 (GRCm39) P242Q probably benign Het
Psmc5 A G 11: 106,152,370 (GRCm39) N129S probably benign Het
Ptchd4 A G 17: 42,688,150 (GRCm39) T231A possibly damaging Het
Qrfpr C T 3: 36,235,201 (GRCm39) probably benign Het
Rab44 G A 17: 29,364,344 (GRCm39) probably benign Het
Racgap1 T C 15: 99,526,508 (GRCm39) probably benign Het
Rapgef4 A G 2: 71,861,385 (GRCm39) E25G probably damaging Het
Rpl8 G C 15: 76,789,246 (GRCm39) probably benign Het
Samd12 G A 15: 53,583,116 (GRCm39) P73S possibly damaging Het
Samd9l T A 6: 3,374,502 (GRCm39) N920Y probably damaging Het
Sdk1 T C 5: 141,948,476 (GRCm39) V607A probably benign Het
Slc25a19 A G 11: 115,508,401 (GRCm39) Y196H probably damaging Het
Slc39a3 A T 10: 80,869,621 (GRCm39) M12K possibly damaging Het
Slc5a4a T C 10: 76,018,556 (GRCm39) I501T possibly damaging Het
Sp4 A T 12: 118,262,408 (GRCm39) V546D possibly damaging Het
Ssh3 C T 19: 4,313,727 (GRCm39) V511M possibly damaging Het
Stard9 T G 2: 120,526,788 (GRCm39) V1015G probably benign Het
Thoc5 G T 11: 4,871,978 (GRCm39) V516F possibly damaging Het
Ttc21a T A 9: 119,783,628 (GRCm39) I570N probably damaging Het
Ttc4 T C 4: 106,524,770 (GRCm39) probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Yipf3 A G 17: 46,562,411 (GRCm39) E298G possibly damaging Het
Zbtb34 C A 2: 33,301,060 (GRCm39) E494* probably null Het
Zfhx3 A G 8: 109,677,878 (GRCm39) Y2976C 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
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
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'- TGATGAGCTTCCTGACCAAGCAC -3'
(R):5'- GGCCAAGTCTGCATAGTAATGCCC -3'

Sequencing Primer
(F):5'- GACAACTGTGTCTTCTCAGTAGAG -3'
(R):5'- CACTCCAAGACCTGAGATGTTATGG -3'
Posted On 2013-04-24