Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Fmo2'

62597

Institutional Source

Beutler Lab

Gene Symbol

Fmo2

Ensembl Gene

ENSMUSG00000040170

Gene Name

flavin containing monooxygenase 2

Synonyms

2310042I22Rik, 2310008D08Rik

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0658 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

162701886-162726295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162704343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 521 (L521Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107135 (fasta)

Gene Model

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

AlphaFold

Q8K2I3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045902
AA Change: L521Q

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: L521Q

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

possibly damaging
Transcript: ENSMUST00000111510
AA Change: L521Q

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: L521Q

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	Het

Other mutations in Fmo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Fmo2	APN	1	162,716,282 (GRCm39)	nonsense	probably null
IGL01299:Fmo2	APN	1	162,705,599 (GRCm39)	missense	probably benign
IGL02617:Fmo2	APN	1	162,704,490 (GRCm39)	missense	probably damaging	1.00
IGL02994:Fmo2	APN	1	162,708,189 (GRCm39)	missense	probably damaging	1.00
IGL03270:Fmo2	APN	1	162,709,595 (GRCm39)	missense	probably damaging	1.00
F5493:Fmo2	UTSW	1	162,708,101 (GRCm39)	missense	probably benign	0.41
R0058:Fmo2	UTSW	1	162,713,893 (GRCm39)	missense	probably benign	0.38
R0058:Fmo2	UTSW	1	162,713,893 (GRCm39)	missense	probably benign	0.38
R0501:Fmo2	UTSW	1	162,704,497 (GRCm39)	missense	probably benign	0.00
R0800:Fmo2	UTSW	1	162,704,383 (GRCm39)	missense	probably benign	0.00
R2223:Fmo2	UTSW	1	162,725,813 (GRCm39)	missense	probably damaging	1.00
R4360:Fmo2	UTSW	1	162,709,583 (GRCm39)	missense	probably damaging	0.99
R4523:Fmo2	UTSW	1	162,715,277 (GRCm39)	missense	probably benign	0.44
R4755:Fmo2	UTSW	1	162,716,374 (GRCm39)	missense	probably damaging	1.00
R6087:Fmo2	UTSW	1	162,708,002 (GRCm39)	missense	probably benign	0.45
R6219:Fmo2	UTSW	1	162,708,085 (GRCm39)	missense	probably damaging	0.97
R6668:Fmo2	UTSW	1	162,704,617 (GRCm39)	missense	probably benign	0.15
R7042:Fmo2	UTSW	1	162,708,226 (GRCm39)	missense	probably damaging	1.00
R7291:Fmo2	UTSW	1	162,715,271 (GRCm39)	missense	probably benign	0.06
R7560:Fmo2	UTSW	1	162,716,318 (GRCm39)	missense	probably damaging	1.00
R7580:Fmo2	UTSW	1	162,704,613 (GRCm39)	missense	possibly damaging	0.46
R7657:Fmo2	UTSW	1	162,716,413 (GRCm39)	missense	probably damaging	1.00
R8757:Fmo2	UTSW	1	162,708,005 (GRCm39)	missense	probably benign	0.09
R8759:Fmo2	UTSW	1	162,708,005 (GRCm39)	missense	probably benign	0.09
R8765:Fmo2	UTSW	1	162,707,966 (GRCm39)	missense	probably benign	0.36
R8925:Fmo2	UTSW	1	162,704,398 (GRCm39)	missense	probably benign	0.00
R8927:Fmo2	UTSW	1	162,704,398 (GRCm39)	missense	probably benign	0.00
R9002:Fmo2	UTSW	1	162,705,647 (GRCm39)	nonsense	probably null
R9141:Fmo2	UTSW	1	162,709,623 (GRCm39)	missense	probably null	0.01
R9486:Fmo2	UTSW	1	162,708,292 (GRCm39)	missense	probably damaging	1.00
Z1176:Fmo2	UTSW	1	162,725,843 (GRCm39)	missense	probably damaging	1.00
Z1176:Fmo2	UTSW	1	162,715,167 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCATAGGAACAGCACTGAGCATC -3'
(R):5'- ACCCTGTAATTCCTACCAGTACCGC -3'

Sequencing Primer
(F):5'- ctcacagagatccatctgcc -3'
(R):5'- TACCAGTACCGCCTGGTTG -3'

Posted On

2013-07-30