Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Fmo2'

34316

Institutional Source

Beutler Lab

Gene Symbol

Fmo2

Ensembl Gene

ENSMUSG00000040170

Gene Name

flavin containing monooxygenase 2

Synonyms

2310042I22Rik, 2310008D08Rik

MMRRC Submission

038352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162701886-162726295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162713893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 204 (S204R)

Ref Sequence

ENSEMBL: ENSMUSP00000107135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045902] [ENSMUST00000111510] [ENSMUST00000143123]

AlphaFold

Q8K2I3

Predicted Effect

probably benign
Transcript: ENSMUST00000045902
AA Change: S204R

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: S204R

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 benign
Transcript: ENSMUST00000111510
AA Change: S204R

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: S204R

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

probably benign
Transcript: ENSMUST00000143123

SMART Domains

Protein: ENSMUSP00000114226
Gene: ENSMUSG00000040170

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	161	1.2e-99	PFAM
Pfam:Pyr_redox_3	6	159	1.6e-8	PFAM
Pfam:NAD_binding_8	7	80	1.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194061

Meta Mutation Damage Score

0.2470

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	G	5: 137,289,104 (GRCm39)	V270G	probably damaging	Het
Acss1	A	T	2: 150,470,459 (GRCm39)	W394R	probably damaging	Het
Adgrv1	A	G	13: 81,330,791 (GRCm39)	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,580,691 (GRCm39)		probably benign	Het
Anxa1	A	T	19: 20,361,141 (GRCm39)	Y84N	probably damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,527,524 (GRCm39)	T16A	probably benign	Het
Bpifb1	G	A	2: 154,048,460 (GRCm39)	R165H	possibly damaging	Het
Cables1	A	G	18: 12,056,470 (GRCm39)	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,761,629 (GRCm39)	I427L	probably damaging	Het
Ccdc97	T	C	7: 25,415,405 (GRCm39)	D86G	probably benign	Het
Cgnl1	C	A	9: 71,548,679 (GRCm39)	D1081Y	probably damaging	Het
Cgnl1	T	A	9: 71,632,122 (GRCm39)	R410W	probably damaging	Het
Cntnap4	G	A	8: 113,512,416 (GRCm39)	E593K	probably damaging	Het
Dazap1	T	C	10: 80,097,415 (GRCm39)		probably benign	Het
Dip2b	A	G	15: 100,113,121 (GRCm39)	E1512G	probably benign	Het
Dock1	G	A	7: 134,710,490 (GRCm39)	V1171M	possibly damaging	Het
Dock5	A	T	14: 68,018,485 (GRCm39)	F1230Y	probably benign	Het
Dym	G	A	18: 75,176,243 (GRCm39)	E15K	possibly damaging	Het
Ednra	C	A	8: 78,393,951 (GRCm39)		probably null	Het
Faf1	A	G	4: 109,593,821 (GRCm39)	Q133R	probably benign	Het
Fbxw28	A	G	9: 109,157,279 (GRCm39)	I323T	probably benign	Het
Fcer2a	T	C	8: 3,738,111 (GRCm39)		probably benign	Het
Frmd4b	A	G	6: 97,400,460 (GRCm39)	V63A	probably damaging	Het
Fzd8	G	A	18: 9,213,985 (GRCm39)	A356T	possibly damaging	Het
Ghitm	A	G	14: 36,853,549 (GRCm39)	L97P	probably damaging	Het
Gins4	A	G	8: 23,719,526 (GRCm39)		probably benign	Het
Golga3	T	A	5: 110,350,643 (GRCm39)	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Helz	A	T	11: 107,563,384 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,820,231 (GRCm39)	V2851A	possibly damaging	Het
Igkv8-18	G	A	6: 70,333,105 (GRCm39)		probably benign	Het
Igll1	A	T	16: 16,681,740 (GRCm39)	V5E	probably benign	Het
Irx3	T	C	8: 92,527,168 (GRCm39)	T179A	possibly damaging	Het
Kif16b	A	G	2: 142,699,225 (GRCm39)		probably null	Het
Limk1	A	T	5: 134,688,725 (GRCm39)	W507R	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mtif3	C	A	5: 146,893,731 (GRCm39)	V159F	probably benign	Het
Myh6	C	T	14: 55,200,861 (GRCm39)	R169Q	probably damaging	Het
Ncoa7	T	A	10: 30,523,537 (GRCm39)	D887V	probably damaging	Het
Obox7	C	T	7: 14,398,313 (GRCm39)	P76S	probably benign	Het
Or10ak12	A	G	4: 118,666,677 (GRCm39)	M128T	probably benign	Het
Or11l3	A	T	11: 58,516,494 (GRCm39)	I126N	probably damaging	Het
Pitpnm2	G	A	5: 124,262,093 (GRCm39)	A862V	probably damaging	Het
Pkd1	G	C	17: 24,783,677 (GRCm39)	A162P	probably benign	Het
Plce1	A	G	19: 38,513,628 (GRCm39)	D309G	possibly damaging	Het
Plk4	T	C	3: 40,760,307 (GRCm39)	V401A	probably benign	Het
Prdx3	T	C	19: 60,862,950 (GRCm39)		probably benign	Het
Prrc2c	C	T	1: 162,526,453 (GRCm39)	V253I	unknown	Het
Ranbp2	T	A	10: 58,316,353 (GRCm39)	S2358T	probably damaging	Het
Setd2	T	A	9: 110,423,494 (GRCm39)	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,432,953 (GRCm39)	S232C	probably damaging	Het
Skint6	A	T	4: 112,904,012 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,909 (GRCm39)	I531T	probably benign	Het
Slc36a1	C	T	11: 55,112,820 (GRCm39)		probably benign	Het
Sorbs2	C	A	8: 46,249,300 (GRCm39)	D831E	probably damaging	Het
Sorbs2	T	A	8: 46,238,291 (GRCm39)		probably null	Het
Sptan1	T	C	2: 29,883,708 (GRCm39)		probably null	Het
Stam	T	C	2: 14,142,952 (GRCm39)	C336R	probably damaging	Het
Stil	G	T	4: 114,898,495 (GRCm39)	A1042S	probably damaging	Het
Stxbp5l	T	A	16: 36,962,736 (GRCm39)	D773V	possibly damaging	Het
Sugct	A	T	13: 17,847,166 (GRCm39)	L39Q	probably damaging	Het
Tep1	A	G	14: 51,071,522 (GRCm39)	V2041A	possibly damaging	Het
Tex15	C	T	8: 34,071,530 (GRCm39)		probably benign	Het
Tlr9	T	G	9: 106,102,164 (GRCm39)	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,343,579 (GRCm39)		probably benign	Het
Triml2	T	C	8: 43,638,306 (GRCm39)		probably benign	Het
Trip6	A	G	5: 137,309,107 (GRCm39)		probably benign	Het
Tspear	T	C	10: 77,705,465 (GRCm39)	F288L	probably benign	Het
Vmn1r179	C	T	7: 23,628,592 (GRCm39)	T261I	possibly damaging	Het
Zfp644	A	T	5: 106,784,869 (GRCm39)	S559R	possibly damaging	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
R0501:Fmo2	UTSW	1	162,704,497 (GRCm39)	missense	probably benign	0.00
R0658:Fmo2	UTSW	1	162,704,343 (GRCm39)	missense	possibly damaging	0.57
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'- actaaaTAACGGAGAAAAGAAacacacacaca -3'
(R):5'- AGAGGAAGTCAGAAAGAGAAAGCTAACCA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- ACCATGCAGTTTCATTAAAATGAAC -3'

Posted On

2013-05-09