Incidental Mutation 'R0063:Aoc2'
| ID |
16494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc2
|
| Ensembl Gene |
ENSMUSG00000078651 |
| Gene Name |
amine oxidase copper containing 2 |
| Synonyms |
|
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101215889-101220528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101216897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 327
(S327T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040255
(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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: S327T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: S327T
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000107264
AA Change: S327T
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: S327T
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.7434 |
| Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
| Validation Efficiency |
99% (86/87) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
Het |
|
| Other mutations in Aoc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation