Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Aoc2'

456402

Institutional Source

Beutler Lab

Gene Symbol

Aoc2

Ensembl Gene

ENSMUSG00000078651

Gene Name

amine oxidase copper containing 2

Synonyms

MMRRC Submission

044100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101215889-101220528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101220072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 659 (E659G)

Ref Sequence

ENSEMBL: ENSMUSP00000102885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017316] [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 damaging
Transcript: ENSMUST00000041095
AA Change: E686G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: E686G

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 damaging
Transcript: ENSMUST00000107264
AA Change: E659G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: E659G

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

Meta Mutation Damage Score

0.5074

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Acin1	T	A	14: 54,901,130 (GRCm39)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Chst2	A	G	9: 95,287,662 (GRCm39)	L228P	probably damaging	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Hus1	T	C	11: 8,960,669 (GRCm39)		probably benign	Het
Ifi47	C	A	11: 48,986,213 (GRCm39)		probably null	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,337,826 (GRCm39)	H400L	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,367,739 (GRCm39)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	probably benign	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
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'- CTAGGCAGAAATTAGTCACAGCAG -3'
(R):5'- TAAGTTGGGGACACAGTCTGC -3'

Sequencing Primer
(F):5'- TCACAGCAGTGGCACCCTG -3'
(R):5'- ACACAGTCTGCCAGCTGTTG -3'

Posted On

2017-02-15