Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Aoc2'

188534

Institutional Source

Beutler Lab

Gene Symbol

Aoc2

Ensembl Gene

ENSMUSG00000078651

Gene Name

amine oxidase copper containing 2

Synonyms

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

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

Stock #

R1681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101215889-101220528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101216018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 34 (S34P)

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

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 benign
Transcript: ENSMUST00000041095
AA Change: S34P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: S34P

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: ENSMUST00000107264
AA Change: S34P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: S34P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151385

SMART Domains

Protein: ENSMUSP00000116996
Gene: ENSMUSG00000078652

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	17	81	1.5e-32	PFAM
Pfam:PA28_beta	116	203	5.6e-40	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,117,011 (GRCm39)	I247N	probably damaging	Het
Ankle1	G	T	8: 71,860,262 (GRCm39)	S260I	probably benign	Het
Ap1m1	A	C	8: 73,009,966 (GRCm39)	I397L	possibly damaging	Het
Apba1	C	A	19: 23,913,925 (GRCm39)	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274 (GRCm39)	V25M	probably benign	Het
Arhgef18	G	A	8: 3,489,645 (GRCm39)	G326R	probably damaging	Het
Atm	A	C	9: 53,433,455 (GRCm39)	I265S	possibly damaging	Het
B3galt4	A	T	17: 34,170,187 (GRCm39)	V17E	probably benign	Het
Bcl7a	T	A	5: 123,494,086 (GRCm39)	M86K	possibly damaging	Het
Calhm6	A	G	10: 34,003,896 (GRCm39)	F4L	probably benign	Het
Cela3a	T	A	4: 137,129,995 (GRCm39)		probably null	Het
Cep85	T	A	4: 133,876,039 (GRCm39)	K456*	probably null	Het
Ces1f	C	A	8: 94,002,042 (GRCm39)	A29S	probably benign	Het
Chd9	A	T	8: 91,699,763 (GRCm39)	I598F	probably damaging	Het
Cntln	T	C	4: 84,865,872 (GRCm39)	L176S	probably damaging	Het
Cntn3	A	T	6: 102,147,629 (GRCm39)	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,003,832 (GRCm39)	S271P	probably damaging	Het
Col6a3	T	A	1: 90,701,224 (GRCm39)	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,462,765 (GRCm39)		probably null	Het
Dapk1	G	T	13: 60,866,278 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,363,872 (GRCm39)	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,129,643 (GRCm39)		probably null	Het
Eny2	T	C	15: 44,295,874 (GRCm39)	W42R	probably damaging	Het
Epha3	A	G	16: 63,416,091 (GRCm39)	V635A	probably damaging	Het
Fam167b	G	C	4: 129,472,069 (GRCm39)	Q34E	probably benign	Het
Fancm	T	C	12: 65,152,430 (GRCm39)	M962T	probably benign	Het
Gimap8	T	A	6: 48,633,345 (GRCm39)	I388N	probably benign	Het
Gpaa1	A	G	15: 76,215,653 (GRCm39)	T22A	probably benign	Het
Hoxc11	T	C	15: 102,863,591 (GRCm39)	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 93,863,906 (GRCm39)	N312S	unknown	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kank1	T	C	19: 25,387,668 (GRCm39)	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,279,958 (GRCm39)		probably null	Het
Klc4	A	T	17: 46,947,696 (GRCm39)	D335E	probably damaging	Het
Klhl33	T	A	14: 51,130,534 (GRCm39)	D320V	probably benign	Het
Krt73	A	T	15: 101,710,482 (GRCm39)	M84K	possibly damaging	Het
Kti12	T	A	4: 108,706,055 (GRCm39)	I323N	probably damaging	Het
Kynu	T	C	2: 43,569,837 (GRCm39)	L373P	probably damaging	Het
Lats1	T	C	10: 7,581,678 (GRCm39)	M821T	probably damaging	Het
Lnx1	A	T	5: 74,846,071 (GRCm39)	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,110,601 (GRCm39)	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,377,617 (GRCm39)	R87L	probably damaging	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,029,255 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,872,450 (GRCm39)	T966A	possibly damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nlrp1a	T	A	11: 71,033,184 (GRCm39)	E3D	unknown	Het
Nphs2	T	A	1: 156,148,468 (GRCm39)	D110E	probably damaging	Het
Nxn	T	A	11: 76,163,290 (GRCm39)	K244N	probably benign	Het
Oas3	A	T	5: 120,907,973 (GRCm39)	F322L	probably benign	Het
Obscn	T	A	11: 58,994,151 (GRCm39)	Y1577F	probably damaging	Het
Or10ag57	G	A	2: 87,218,964 (GRCm39)	R305K	possibly damaging	Het
Or8b47	T	A	9: 38,435,413 (GRCm39)	N128K	probably benign	Het
Or8b50	G	A	9: 38,518,244 (GRCm39)	G161D	probably damaging	Het
Or8b52	A	G	9: 38,576,616 (GRCm39)	Y175H	probably benign	Het
Or8d2	T	C	9: 38,759,809 (GRCm39)	M133T	probably damaging	Het
Panx1	T	C	9: 14,919,079 (GRCm39)	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,606,866 (GRCm39)	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,296,968 (GRCm39)	V461F	probably damaging	Het
Plpp3	G	A	4: 105,066,002 (GRCm39)		probably null	Het
Prtn3	A	T	10: 79,716,375 (GRCm39)	T61S	probably benign	Het
Psen1	T	A	12: 83,771,394 (GRCm39)	Y225N	probably damaging	Het
Rab44	T	A	17: 29,359,098 (GRCm39)	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,809,388 (GRCm39)	I462M	probably benign	Het
Rbfox3	T	C	11: 118,396,495 (GRCm39)	N105S	probably damaging	Het
Rbm7	A	C	9: 48,401,021 (GRCm39)	Y236D	possibly damaging	Het
Samhd1	T	C	2: 156,943,652 (GRCm39)	T621A	probably benign	Het
Samt3	C	A	X: 85,090,256 (GRCm39)	D49E	probably benign	Het
Sass6	T	C	3: 116,397,122 (GRCm39)	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,633,478 (GRCm39)	M418I	possibly damaging	Het
Scrib	T	C	15: 75,936,416 (GRCm39)	E480G	probably damaging	Het
Sec24a	T	G	11: 51,586,016 (GRCm39)	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,058,365 (GRCm39)	E84A	probably benign	Het
Slc6a17	C	T	3: 107,381,702 (GRCm39)	V419I	probably damaging	Het
Ssr2	T	C	3: 88,488,349 (GRCm39)	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,794,151 (GRCm39)	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,259,140 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,538,585 (GRCm39)	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,759,342 (GRCm39)	P712S	probably damaging	Het
Tmem145	T	A	7: 25,014,159 (GRCm39)	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,759,572 (GRCm39)	K755E	unknown	Het
Trmt44	A	G	5: 35,727,321 (GRCm39)	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,314,179 (GRCm39)	V184A	probably benign	Het
Zfp84	T	C	7: 29,476,825 (GRCm39)	C506R	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
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
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'- GCCACAATGTCAGACACCGATGAG -3'
(R):5'- ACAGTCACATCCCGCATGTAGGAG -3'

Sequencing Primer
(F):5'- GCCATGAATCTCAAGGTGCT -3'
(R):5'- AAGATGATGGCTAGTGCCTCTC -3'

Posted On

2014-05-09