Incidental Mutation 'R8685:Aoc3'
ID 661999
Institutional Source Beutler Lab
Gene Symbol Aoc3
Ensembl Gene ENSMUSG00000019326
Gene Name amine oxidase, copper containing 3
Synonyms semicarbazide-sensitive amine oxidase, SSAO, VAP1
MMRRC Submission 068540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R8685 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101221432-101230256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101223042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 426 (R426H)
Ref Sequence ENSEMBL: ENSMUSP00000099394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000041095] [ENSMUST00000103105] [ENSMUST00000107264]
AlphaFold O70423
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: ENSMUST00000041095
SMART Domains Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651

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
AA Change: R426H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: R426H

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 benign
Transcript: ENSMUST00000107264
SMART Domains Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice display decreased lymphocyte migration and homing in response to inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,862,140 (GRCm39) Y50C probably damaging Het
Adgrl3 G T 5: 81,874,708 (GRCm39) D1002Y possibly damaging Het
Atf6b A G 17: 34,869,320 (GRCm39) H179R probably benign Het
Bbs4 T C 9: 59,247,138 (GRCm39) T121A probably benign Het
Brca1 T C 11: 101,380,672 (GRCm39) Y1787C probably benign Het
Cbx2 T A 11: 118,918,746 (GRCm39) S104T possibly damaging Het
Cdh10 T A 15: 18,899,851 (GRCm39) N59K possibly damaging Het
Clstn3 C T 6: 124,433,867 (GRCm39) R431H probably damaging Het
Cylc2 C T 4: 51,229,651 (GRCm39) T331M unknown Het
Dcpp3 T C 17: 24,138,096 (GRCm39) S85P probably benign Het
Dip2c A G 13: 9,687,161 (GRCm39) T1262A probably benign Het
Dlgap2 A G 8: 14,881,628 (GRCm39) E900G possibly damaging Het
Dtx4 C T 19: 12,446,995 (GRCm39) D566N probably benign Het
Elmo1 T A 13: 20,474,594 (GRCm39) N339K possibly damaging Het
Gm11596 C A 11: 99,683,816 (GRCm39) R101S unknown Het
Hk1 T C 10: 62,132,453 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,205 (GRCm39) S148T unknown Het
Hyls1 A G 9: 35,472,724 (GRCm39) Y231H probably damaging Het
Il17rb T A 14: 29,726,297 (GRCm39) Y97F probably benign Het
Lamc1 G T 1: 153,109,288 (GRCm39) T1168K probably benign Het
Larp6 A T 9: 60,631,495 (GRCm39) D89V probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Myo18a A G 11: 77,745,520 (GRCm39) T1953A probably benign Het
Myo5c A G 9: 75,192,229 (GRCm39) D1127G possibly damaging Het
Myo7a T C 7: 97,746,334 (GRCm39) D266G probably benign Het
Naa35 T A 13: 59,734,036 (GRCm39) M22K probably benign Het
Niban2 T G 2: 32,809,101 (GRCm39) L229R probably benign Het
Or1f19 A T 16: 3,410,904 (GRCm39) I215F probably damaging Het
Pcdha8 T A 18: 37,127,003 (GRCm39) V495E probably damaging Het
Per2 T G 1: 91,378,402 (GRCm39) D49A possibly damaging Het
Plau G A 14: 20,889,627 (GRCm39) probably benign Het
Plekhg6 T A 6: 125,352,755 (GRCm39) I131L possibly damaging Het
Pnma8b T A 7: 16,679,965 (GRCm39) D316E unknown Het
Ppp4r3b T C 11: 29,159,436 (GRCm39) Y597H possibly damaging Het
Psmd2 T C 16: 20,474,161 (GRCm39) V288A probably benign Het
Slc6a15 T C 10: 103,245,556 (GRCm39) V513A possibly damaging Het
Smarcd3 G A 5: 24,800,988 (GRCm39) R140W probably damaging Het
Srrm4 T C 5: 116,585,380 (GRCm39) R440G unknown Het
Tpsg1 A T 17: 25,592,241 (GRCm39) Y105F possibly damaging Het
Trbv26 C A 6: 41,204,693 (GRCm39) A38E probably damaging Het
Ush2a T A 1: 188,198,401 (GRCm39) N1488K probably damaging Het
Vill A T 9: 118,895,795 (GRCm39) R502S probably benign Het
Zbed6 A T 1: 133,584,754 (GRCm39) L861* probably null Het
Other mutations in Aoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Aoc3 APN 11 101,228,304 (GRCm39) missense possibly damaging 0.73
IGL02026:Aoc3 APN 11 101,228,421 (GRCm39) missense probably benign
IGL02500:Aoc3 APN 11 101,228,215 (GRCm39) nonsense probably null
R0463:Aoc3 UTSW 11 101,222,432 (GRCm39) missense probably damaging 1.00
R0524:Aoc3 UTSW 11 101,228,337 (GRCm39) missense probably damaging 1.00
R0538:Aoc3 UTSW 11 101,222,964 (GRCm39) missense possibly damaging 0.77
R0685:Aoc3 UTSW 11 101,227,273 (GRCm39) missense possibly damaging 0.84
R0740:Aoc3 UTSW 11 101,223,158 (GRCm39) missense probably benign 0.01
R0946:Aoc3 UTSW 11 101,223,131 (GRCm39) missense possibly damaging 0.89
R1723:Aoc3 UTSW 11 101,227,261 (GRCm39) missense possibly damaging 0.82
R1869:Aoc3 UTSW 11 101,222,293 (GRCm39) nonsense probably null
R3735:Aoc3 UTSW 11 101,223,045 (GRCm39) missense probably damaging 0.99
R4497:Aoc3 UTSW 11 101,222,871 (GRCm39) missense possibly damaging 0.70
R4613:Aoc3 UTSW 11 101,228,485 (GRCm39) intron probably benign
R4858:Aoc3 UTSW 11 101,222,488 (GRCm39) missense probably damaging 1.00
R4954:Aoc3 UTSW 11 101,222,925 (GRCm39) missense probably damaging 1.00
R4976:Aoc3 UTSW 11 101,221,800 (GRCm39) missense probably damaging 1.00
R5770:Aoc3 UTSW 11 101,222,578 (GRCm39) nonsense probably null
R6679:Aoc3 UTSW 11 101,222,279 (GRCm39) missense probably damaging 1.00
R7485:Aoc3 UTSW 11 101,228,229 (GRCm39) missense probably damaging 1.00
R7693:Aoc3 UTSW 11 101,223,338 (GRCm39) missense probably benign 0.00
R7888:Aoc3 UTSW 11 101,223,323 (GRCm39) missense probably damaging 1.00
R8041:Aoc3 UTSW 11 101,223,132 (GRCm39) missense probably benign 0.00
R8444:Aoc3 UTSW 11 101,232,573 (GRCm39) missense unknown
R8491:Aoc3 UTSW 11 101,223,042 (GRCm39) missense probably benign 0.41
R8732:Aoc3 UTSW 11 101,222,643 (GRCm39) missense probably benign 0.00
R9660:Aoc3 UTSW 11 101,221,914 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TGGCCTATGAAATCAGTGTCC -3'
(R):5'- CCTGTGGCGTGGAATTTGAC -3'

Sequencing Primer
(F):5'- CTATGAAATCAGTGTCCAGGAGGCC -3'
(R):5'- GGAATTTGACTTCTATGGCCCCATTG -3'
Posted On 2021-03-08