Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Acox2'

597639

Institutional Source

Beutler Lab

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8225511-8259353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8230166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 659 (N659S)

Ref Sequence

ENSEMBL: ENSMUSP00000022271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022271] [ENSMUST00000164598]

AlphaFold

Q9QXD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022271
AA Change: N659S

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

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: N659S

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	1.2e-28	PFAM
SCOP:d1is2a1	309	478	1e-28	SMART
Pfam:ACOX	492	677	3.2e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164598
AA Change: N659S

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

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: N659S

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	6.3e-29	PFAM
Pfam:Acyl-CoA_dh_M	150	260	2.8e-11	PFAM
SCOP:d1is2a1	309	478	1e-28	SMART
Pfam:ACOX	495	675	1.3e-60	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice heterozygous for an endonuclease-mediated deletion exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disc1	A	G	8: 125,087,504	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Jak2	T	C	19: 29,283,546	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884		probably null	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	Het

Other mutations in Acox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Acox2	APN	14	8246363	missense	probably damaging	1.00
IGL01845:Acox2	APN	14	8251617	missense	probably damaging	1.00
IGL02830:Acox2	APN	14	8255298	missense	probably damaging	1.00
R0415:Acox2	UTSW	14	8243835	splice site	probably benign
R0535:Acox2	UTSW	14	8256753	missense	probably damaging	1.00
R1424:Acox2	UTSW	14	8230247	missense	probably benign	0.02
R1836:Acox2	UTSW	14	8248059	missense	possibly damaging	0.91
R1862:Acox2	UTSW	14	8241416	missense	probably benign	0.07
R1885:Acox2	UTSW	14	8248102	missense	probably benign	0.00
R2032:Acox2	UTSW	14	8246400	missense	probably benign	0.00
R2268:Acox2	UTSW	14	8253496	missense	probably damaging	0.98
R2497:Acox2	UTSW	14	8251612	missense	probably benign	0.00
R3032:Acox2	UTSW	14	8253466	missense	probably damaging	1.00
R3842:Acox2	UTSW	14	8251543	missense	probably damaging	1.00
R3874:Acox2	UTSW	14	8248061	missense	probably benign	0.00
R4763:Acox2	UTSW	14	8241334	missense	possibly damaging	0.81
R5072:Acox2	UTSW	14	8241374	nonsense	probably null
R5397:Acox2	UTSW	14	8243803	missense	probably benign	0.02
R5950:Acox2	UTSW	14	8255793	missense	probably benign
R7188:Acox2	UTSW	14	8252996	missense	possibly damaging	0.67
R7208:Acox2	UTSW	14	8241303	missense	probably benign	0.27
R7315:Acox2	UTSW	14	8256139	missense	probably damaging	0.99
R7888:Acox2	UTSW	14	8246415	missense	probably benign	0.00
R8269:Acox2	UTSW	14	8246325	missense	probably benign	0.00
R8531:Acox2	UTSW	14	8247960	missense	probably damaging	1.00
R8536:Acox2	UTSW	14	8256081	missense	probably benign	0.00
R8782:Acox2	UTSW	14	8250035	missense	probably damaging	0.99
R8964:Acox2	UTSW	14	8243768	nonsense	probably null
R9183:Acox2	UTSW	14	8251559	missense	probably damaging	1.00
R9463:Acox2	UTSW	14	8256789	missense	probably damaging	1.00
R9466:Acox2	UTSW	14	8248092	missense	probably benign	0.12
Z1177:Acox2	UTSW	14	8256852	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GATTTCAGTTCCTGCCAGGC -3'
(R):5'- TCAACACCTAATTACTTCCTATGGG -3'

Sequencing Primer
(F):5'- AGTTCCTGCCAGGCCACAC -3'
(R):5'- CCTATGGGTTGACGAGATTCCTAAG -3'

Posted On

2019-11-26