Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02617:Fmo2'

300700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmo2

Ensembl Gene

ENSMUSG00000040170

Gene Name

flavin containing monooxygenase 2

Synonyms

2310008D08Rik, 2310042I22Rik

Accession Numbers

Genbank: NM_018881

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02617

Quality Score

Status

Chromosome

Chromosomal Location

162874317-162898726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 162876921 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 472 (Q472L)

Ref Sequence

ENSEMBL: ENSMUSP00000107135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045902] [ENSMUST00000111510]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045902
AA Change: Q472L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: Q472L

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	533	8.7e-296	PFAM
Pfam:Pyr_redox_2	3	230	6.4e-12	PFAM
Pfam:Pyr_redox_3	6	220	4.4e-10	PFAM
Pfam:K_oxygenase	69	233	2.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111510
AA Change: Q472L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: Q472L

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	533	8.7e-296	PFAM
Pfam:Pyr_redox_2	4	446	1.3e-6	PFAM
Pfam:Pyr_redox_3	6	220	8e-17	PFAM
Pfam:NAD_binding_8	7	72	4.3e-6	PFAM
Pfam:K_oxygenase	78	333	1.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194197

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,574,444	Q172*	probably null	Het
Adgrg5	A	G	8: 94,933,982	D79G	probably benign	Het
Aga	G	A	8: 53,520,313	D249N	possibly damaging	Het
Aifm3	A	G	16: 17,500,533	Q170R	probably null	Het
Cdh2	T	A	18: 16,627,604	N512Y	probably damaging	Het
Chd8	A	G	14: 52,235,191	I385T	probably benign	Het
Clic6	A	G	16: 92,499,318	K289E	probably benign	Het
Ctcf	G	T	8: 105,677,210		probably benign	Het
Fam129a	T	A	1: 151,571,545	S6T	probably benign	Het
Fam160a1	A	T	3: 85,673,037	D620E	probably benign	Het
Fat1	T	C	8: 45,035,591	Y3447H	probably benign	Het
Gcnt3	C	A	9: 70,034,162	G375W	probably damaging	Het
Golga3	T	A	5: 110,188,746	V417E	probably benign	Het
Hivep3	T	C	4: 120,095,444	L319P	probably benign	Het
Kctd13	A	G	7: 126,942,332	K248R	possibly damaging	Het
Magel2	G	A	7: 62,380,198	R950H	unknown	Het
Nmt2	A	G	2: 3,314,713	I247V	probably benign	Het
Olfr294	T	G	7: 86,615,664	H327P	probably benign	Het
Olfr390	T	A	11: 73,787,734	N265K	probably benign	Het
Pcdhb12	T	C	18: 37,437,046	V415A	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prr27	T	A	5: 87,842,659	N43K	probably benign	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sec24a	A	T	11: 51,712,187		probably null	Het
Srek1ip1	C	A	13: 104,837,476	H130Q	possibly damaging	Het
Trio	C	T	15: 27,841,849		probably benign	Het
Ttn	A	G	2: 76,778,270		probably benign	Het
Vmn2r65	C	A	7: 84,940,341	S789I	probably damaging	Het
Zbtb17	A	G	4: 141,465,088	Q448R	probably damaging	Het

Other mutations in Fmo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Fmo2	APN	1	162888713	nonsense	probably null
IGL01299:Fmo2	APN	1	162878030	missense	probably benign
IGL02994:Fmo2	APN	1	162880620	missense	probably damaging	1.00
IGL03270:Fmo2	APN	1	162882026	missense	probably damaging	1.00
F5493:Fmo2	UTSW	1	162880532	missense	probably benign	0.41
R0058:Fmo2	UTSW	1	162886324	missense	probably benign	0.38
R0058:Fmo2	UTSW	1	162886324	missense	probably benign	0.38
R0501:Fmo2	UTSW	1	162876928	missense	probably benign	0.00
R0658:Fmo2	UTSW	1	162876774	missense	possibly damaging	0.57
R0800:Fmo2	UTSW	1	162876814	missense	probably benign	0.00
R2223:Fmo2	UTSW	1	162898244	missense	probably damaging	1.00
R4360:Fmo2	UTSW	1	162882014	missense	probably damaging	0.99
R4523:Fmo2	UTSW	1	162887708	missense	probably benign	0.44
R4755:Fmo2	UTSW	1	162888805	missense	probably damaging	1.00
R6087:Fmo2	UTSW	1	162880433	missense	probably benign	0.45
R6219:Fmo2	UTSW	1	162880516	missense	probably damaging	0.97
R6668:Fmo2	UTSW	1	162877048	missense	probably benign	0.15
R7042:Fmo2	UTSW	1	162880657	missense	probably damaging	1.00
R7291:Fmo2	UTSW	1	162887702	missense	probably benign	0.06
R7560:Fmo2	UTSW	1	162888749	missense	probably damaging	1.00
R7580:Fmo2	UTSW	1	162877044	missense	possibly damaging	0.46
R7657:Fmo2	UTSW	1	162888844	missense	probably damaging	1.00
Z1176:Fmo2	UTSW	1	162887598
Z1176:Fmo2	UTSW	1	162898274

Posted On

2015-04-16