Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Aoc2'

510048

Institutional Source

Beutler Lab

Gene Symbol

Aoc2

Ensembl Gene

ENSMUSG00000078651

Gene Name

amine oxidase copper containing 2

Synonyms

MMRRC Submission

044417-MU

Accession Numbers

Essential gene?

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

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101215889-101220528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101216292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 125 (F125S)

Ref Sequence

ENSEMBL: ENSMUSP00000040255 (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 damaging
Transcript: ENSMUST00000041095
AA Change: F125S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
AA Change: F125S

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 damaging
Transcript: ENSMUST00000107264
AA Change: F125S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
AA Change: F125S

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Bhlhe22	A	G	3: 18,109,778 (GRCm39)	E276G	probably damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cspg4b	T	A	13: 113,504,802 (GRCm39)	L1977H	probably benign	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Ints4	T	A	7: 97,178,425 (GRCm39)	L675*	probably null	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Phactr2	A	T	10: 13,137,626 (GRCm39)	M172K	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Rp1	A	G	1: 4,112,212 (GRCm39)	L1213P	unknown	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Serpinb7	T	C	1: 107,379,436 (GRCm39)	I281T	probably damaging	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	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
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
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'- TGATGAGCTTCCTGACCAAGC -3'
(R):5'- GAGCCATTGTAGTTCAAGACAG -3'

Sequencing Primer
(F):5'- TTCCTGACCAAGCACCTGG -3'
(R):5'- GCCATTGTAGTTCAAGACAGAAGCC -3'

Posted On

2018-04-02