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 (retina-specific)

Synonyms

MMRRC Submission

039717-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R1681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101325063-101329702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101325192 bp (GRCm38)

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: 84,226,185	I247N	probably damaging	Het
Ankle1	G	T	8: 71,407,618	S260I	probably benign	Het
Ap1m1	A	C	8: 72,256,122	I397L	possibly damaging	Het
Apba1	C	A	19: 23,936,561	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274	V25M	probably benign	Het
Arhgef18	G	A	8: 3,439,645	G326R	probably damaging	Het
Atm	A	C	9: 53,522,155	I265S	possibly damaging	Het
B3galt4	A	T	17: 33,951,213	V17E	probably benign	Het
Bcl7a	T	A	5: 123,356,023	M86K	possibly damaging	Het
Cela3a	T	A	4: 137,402,684		probably null	Het
Cep85	T	A	4: 134,148,728	K456*	probably null	Het
Ces1f	C	A	8: 93,275,414	A29S	probably benign	Het
Chd9	A	T	8: 90,973,135	I598F	probably damaging	Het
Cntln	T	C	4: 84,947,635	L176S	probably damaging	Het
Cntn3	A	T	6: 102,170,668	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,076,107	S271P	probably damaging	Het
Col6a3	T	A	1: 90,773,502	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,763,340		probably null	Het
Dapk1	G	T	13: 60,718,464		probably null	Het
Dnah7b	T	A	1: 46,324,712	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,299,162		probably null	Het
Eny2	T	C	15: 44,432,478	W42R	probably damaging	Het
Epha3	A	G	16: 63,595,728	V635A	probably damaging	Het
Fam167b	G	C	4: 129,578,276	Q34E	probably benign	Het
Fam26f	A	G	10: 34,127,900	F4L	probably benign	Het
Fancm	T	C	12: 65,105,656	M962T	probably benign	Het
Gimap8	T	A	6: 48,656,411	I388N	probably benign	Het
Gpaa1	A	G	15: 76,331,453	T22A	probably benign	Het
Hoxc11	T	C	15: 102,955,156	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 94,033,561	N312S	unknown	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,128,795	Y712C	probably damaging	Het
Kank1	T	C	19: 25,410,304	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,195,501		probably null	Het
Klc4	A	T	17: 46,636,770	D335E	probably damaging	Het
Klhl33	T	A	14: 50,893,077	D320V	probably benign	Het
Krt73	A	T	15: 101,802,047	M84K	possibly damaging	Het
Kti12	T	A	4: 108,848,858	I323N	probably damaging	Het
Kynu	T	C	2: 43,679,825	L373P	probably damaging	Het
Lats1	T	C	10: 7,705,914	M821T	probably damaging	Het
Lnx1	A	T	5: 74,685,410	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,461,177	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,559,753	R87L	probably damaging	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,138,429		probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nlrp1a	T	A	11: 71,142,358	E3D	unknown	Het
Nphs2	T	A	1: 156,320,898	D110E	probably damaging	Het
Nxn	T	A	11: 76,272,464	K244N	probably benign	Het
Oas3	A	T	5: 120,769,908	F322L	probably benign	Het
Obscn	T	A	11: 59,103,325	Y1577F	probably damaging	Het
Olfr1122	G	A	2: 87,388,620	R305K	possibly damaging	Het
Olfr911-ps1	T	A	9: 38,524,117	N128K	probably benign	Het
Olfr914	G	A	9: 38,606,948	G161D	probably damaging	Het
Olfr917	A	G	9: 38,665,320	Y175H	probably benign	Het
Olfr924	T	C	9: 38,848,513	M133T	probably damaging	Het
Panx1	T	C	9: 15,007,783	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,473,813	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,308,529	V461F	probably damaging	Het
Plpp3	G	A	4: 105,208,805		probably null	Het
Prtn3	A	T	10: 79,880,541	T61S	probably benign	Het
Psen1	T	A	12: 83,724,620	Y225N	probably damaging	Het
Rab44	T	A	17: 29,140,124	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,762,603	I462M	probably benign	Het
Rbfox3	T	C	11: 118,505,669	N105S	probably damaging	Het
Rbm7	A	C	9: 48,489,721	Y236D	possibly damaging	Het
Samhd1	T	C	2: 157,101,732	T621A	probably benign	Het
Samt3	C	A	X: 86,046,650	D49E	probably benign	Het
Sass6	T	C	3: 116,603,473	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,804,412	M418I	possibly damaging	Het
Scrib	T	C	15: 76,064,567	E480G	probably damaging	Het
Sec24a	T	G	11: 51,695,189	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,408,941	E84A	probably benign	Het
Slc6a17	C	T	3: 107,474,386	V419I	probably damaging	Het
Soga1	T	C	2: 157,030,530	T966A	possibly damaging	Het
Ssr2	T	C	3: 88,581,042	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,575,177	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,351,824		probably null	Het
Tll1	A	C	8: 64,085,551	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,841,105	P712S	probably damaging	Het
Tmem145	T	A	7: 25,314,734	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,773,817	K755E	unknown	Het
Trmt44	A	G	5: 35,569,977	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,580,252	V184A	probably benign	Het
Zfp84	T	C	7: 29,777,400	C506R	probably damaging	Het

Other mutations in Aoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01900:Aoc2	APN	11	101328823	missense	probably damaging	1.00
IGL02340:Aoc2	APN	11	101326375	missense	probably damaging	1.00
IGL02382:Aoc2	APN	11	101326672	missense	probably damaging	1.00
R0063:Aoc2	UTSW	11	101326071	missense	probably damaging	1.00
R0063:Aoc2	UTSW	11	101326071	missense	probably damaging	1.00
R0398:Aoc2	UTSW	11	101325553	missense	possibly damaging	0.56
R1430:Aoc2	UTSW	11	101326495	missense	probably damaging	1.00
R3157:Aoc2	UTSW	11	101329276	missense	probably damaging	1.00
R3158:Aoc2	UTSW	11	101329276	missense	probably damaging	1.00
R4159:Aoc2	UTSW	11	101325296	missense	probably damaging	0.98
R4747:Aoc2	UTSW	11	101328820	critical splice acceptor site	probably null
R5120:Aoc2	UTSW	11	101325714	missense	probably benign	0.00
R5902:Aoc2	UTSW	11	101329246	missense	probably damaging	1.00
R6032:Aoc2	UTSW	11	101325801	missense	probably damaging	1.00
R6032:Aoc2	UTSW	11	101325801	missense	probably damaging	1.00
R6317:Aoc2	UTSW	11	101325466	missense	probably damaging	1.00
R6778:Aoc2	UTSW	11	101325361	missense	probably damaging	0.99
R7323:Aoc2	UTSW	11	101328545	missense	probably damaging	1.00
R7491:Aoc2	UTSW	11	101328377	missense	probably benign	0.14
R7584:Aoc2	UTSW	11	101326179	missense	possibly damaging	0.50
R9019:Aoc2	UTSW	11	101325436	missense	possibly damaging	0.69
R9098:Aoc2	UTSW	11	101326338	missense	possibly damaging	0.58
Z1176:Aoc2	UTSW	11	101326420	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