Mutagenetix > Incidental Mutation

Incidental Mutation 'R7584:Aoc2'

586989

Institutional Source

Beutler Lab

Gene Symbol

Aoc2

Ensembl Gene

ENSMUSG00000078651

Gene Name

amine oxidase copper containing 2

Synonyms

MMRRC Submission

045667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R7584 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101215889-101220528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101217005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 363 (C363S)

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

possibly damaging
Transcript: ENSMUST00000041095
AA Change: C363S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: C363S

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

probably benign
Transcript: ENSMUST00000107264
AA Change: C363S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: C363S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,626,304 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,356 (GRCm39)	K246R	probably benign	Het
Adam23	T	A	1: 63,584,621 (GRCm39)	V343D	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ank2	G	A	3: 126,739,777 (GRCm39)	Q2036*	probably null	Het
Ano10	A	G	9: 122,104,597 (GRCm39)	I40T	probably benign	Het
Aplp2	A	T	9: 31,069,077 (GRCm39)	V584E	possibly damaging	Het
Arhgap32	A	T	9: 32,168,263 (GRCm39)	T749S	probably benign	Het
Atm	A	T	9: 53,424,427 (GRCm39)	F625I	probably damaging	Het
Atr	T	C	9: 95,824,766 (GRCm39)	L2387P	probably damaging	Het
Barhl1	C	T	2: 28,799,803 (GRCm39)	G274D	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,345 (GRCm39)	D81V	probably damaging	Het
Ccdc63	T	G	5: 122,251,267 (GRCm39)	D381A	possibly damaging	Het
Col12a1	A	G	9: 79,610,578 (GRCm39)		probably null	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp4b1	T	A	4: 115,485,884 (GRCm39)	D351V	probably damaging	Het
D130043K22Rik	A	G	13: 25,056,353 (GRCm39)	S562G	probably damaging	Het
Dgkb	T	A	12: 38,189,391 (GRCm39)		probably null	Het
Dmbt1	C	T	7: 130,690,481 (GRCm39)	Q905*	probably null	Het
Dnajc21	A	C	15: 10,462,381 (GRCm39)	Y81*	probably null	Het
Dnali1	T	C	4: 124,959,331 (GRCm39)	T21A	probably benign	Het
Dpp8	A	T	9: 64,986,064 (GRCm39)	L851F	probably damaging	Het
Dpt	T	C	1: 164,646,477 (GRCm39)	Y149H	probably benign	Het
Ep300	T	C	15: 81,512,627 (GRCm39)	V983A	unknown	Het
Faf1	C	T	4: 109,783,154 (GRCm39)	R549C	probably damaging	Het
Gcm1	A	G	9: 77,971,749 (GRCm39)	N230S	possibly damaging	Het
Gm10803	T	A	2: 93,394,513 (GRCm39)	I95N	probably damaging	Het
Hectd4	T	A	5: 121,456,798 (GRCm39)	I721N	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,197 (GRCm39)	H315R	probably damaging	Het
Igkv10-95	T	A	6: 68,657,740 (GRCm39)	S85R	possibly damaging	Het
Katnip	G	T	7: 125,469,838 (GRCm39)	V1436L	probably damaging	Het
Kcnq5	T	C	1: 21,472,545 (GRCm39)	T901A	probably benign	Het
Kremen1	C	T	11: 5,144,964 (GRCm39)	V471M	possibly damaging	Het
Lama2	C	A	10: 26,980,257 (GRCm39)	D1853Y	possibly damaging	Het
Lrif1	A	G	3: 106,639,217 (GRCm39)	T76A	probably benign	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Ltbr	G	T	6: 125,284,204 (GRCm39)	Q413K	probably benign	Het
Ms4a20	A	G	19: 11,087,725 (GRCm39)	F69L	possibly damaging	Het
Myrfl	T	A	10: 116,664,902 (GRCm39)	Y376F	probably damaging	Het
Nup50l	A	C	6: 96,142,373 (GRCm39)	L224V	probably benign	Het
Nup98	G	T	7: 101,825,596 (GRCm39)	N414K	probably benign	Het
Nynrin	A	G	14: 56,109,041 (GRCm39)	T1383A	probably damaging	Het
Or4c15	G	A	2: 88,760,149 (GRCm39)	P170L	probably damaging	Het
Or5j1	A	T	2: 86,879,478 (GRCm39)	I34N	probably benign	Het
Or6c208	T	A	10: 129,223,901 (GRCm39)	I133N	probably damaging	Het
Or7g27	C	A	9: 19,250,569 (GRCm39)	T271K	possibly damaging	Het
Or8b1d	G	T	9: 38,558,191 (GRCm39)	P210T	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,425 (GRCm39)	S602T	possibly damaging	Het
Sall3	A	G	18: 81,017,745 (GRCm39)	F61S	probably benign	Het
Scube1	G	T	15: 83,606,088 (GRCm39)	C61*	probably null	Het
Sec31b	T	C	19: 44,519,995 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,531,762 (GRCm39)	D49G	probably damaging	Het
Skic2	A	G	17: 35,060,651 (GRCm39)	I822T	possibly damaging	Het
Slc19a3	C	T	1: 83,000,469 (GRCm39)	V183M	possibly damaging	Het
Slc41a2	T	C	10: 83,152,653 (GRCm39)		probably benign	Het
Sphk2	C	A	7: 45,361,931 (GRCm39)	V169L	probably damaging	Het
Synpo	C	A	18: 60,729,349 (GRCm39)	R951L	probably damaging	Het
Tbc1d9b	G	A	11: 50,061,543 (GRCm39)	C1017Y	probably damaging	Het
Tmtc4	C	A	14: 123,215,563 (GRCm39)	V28F	probably benign	Het
Tprkb	A	G	6: 85,905,809 (GRCm39)	I165V	probably benign	Het
Ttc23l	T	A	15: 10,533,794 (GRCm39)	I250F	probably damaging	Het
Tut4	T	C	4: 108,336,543 (GRCm39)	V89A	probably benign	Het
Ubr3	G	A	2: 69,821,847 (GRCm39)	V1370I	probably damaging	Het
Ush2a	A	G	1: 188,460,306 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,384,451 (GRCm39)	Y689C	probably damaging	Het
Vmn1r56	A	T	7: 5,198,895 (GRCm39)	Y241N	probably damaging	Het
Vmn2r6	T	C	3: 64,472,683 (GRCm39)	T13A	probably benign	Het
Vmn2r92	T	A	17: 18,387,028 (GRCm39)	N122K	probably benign	Het
Vps9d1	A	G	8: 123,977,456 (GRCm39)	F131S	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,547 (GRCm39)		probably null	Het
Zbtb41	T	A	1: 139,351,795 (GRCm39)	Y303N	probably benign	Het
Zbtb5	T	C	4: 44,993,678 (GRCm39)	T569A	probably benign	Het
Zfp111	A	G	7: 23,898,025 (GRCm39)	S530P	possibly 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
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
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'- TAGAGTCACTCCAGACCCTC -3'
(R):5'- CTGGGCCTCCTCAAATACAC -3'

Sequencing Primer
(F):5'- AGTCACTCCAGACCCTCCTCTTC -3'
(R):5'- ACAGCCCCTGGAAGCAG -3'

Posted On

2019-10-24