Incidental Mutation 'R6087:Fmo2'
| ID |
484591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo2
|
| Ensembl Gene |
ENSMUSG00000040170 |
| Gene Name |
flavin containing monooxygenase 2 |
| Synonyms |
2310042I22Rik, 2310008D08Rik |
| MMRRC Submission |
044244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6087 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162701886-162726295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 162708002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 378
(I378F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045902]
[ENSMUST00000111510]
|
| AlphaFold |
Q8K2I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045902
AA Change: I378F
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: I378F
| 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: I378F
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: I378F
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,119,621 (GRCm39) |
K126R |
possibly damaging |
Het |
| Adam7 |
A |
T |
14: 68,748,206 (GRCm39) |
C548S |
probably damaging |
Het |
| Adar |
C |
A |
3: 89,652,897 (GRCm39) |
H260N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,258,828 (GRCm39) |
E775G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,568 (GRCm39) |
Y499C |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,772,190 (GRCm39) |
L480P |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,763,638 (GRCm39) |
|
probably null |
Het |
| Cnga1 |
G |
T |
5: 72,768,155 (GRCm39) |
A177E |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,432,658 (GRCm39) |
D1221V |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,648,205 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,138,438 (GRCm39) |
N1254K |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,449,255 (GRCm39) |
S128P |
probably damaging |
Het |
| Fam13b |
C |
T |
18: 34,620,192 (GRCm39) |
V231I |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,353 (GRCm39) |
Y122N |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,352,812 (GRCm39) |
Q861L |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ighv3-8 |
G |
T |
12: 114,286,000 (GRCm39) |
A114E |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,269 (GRCm39) |
|
probably null |
Het |
| Kank1 |
G |
A |
19: 25,387,088 (GRCm39) |
V254I |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,443,375 (GRCm39) |
I147K |
unknown |
Het |
| Lrfn2 |
A |
G |
17: 49,378,154 (GRCm39) |
S412G |
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,534 (GRCm39) |
N261S |
possibly damaging |
Het |
| Mical2 |
C |
T |
7: 111,917,692 (GRCm39) |
Q350* |
probably null |
Het |
| Nras |
T |
C |
3: 102,967,637 (GRCm39) |
F78L |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,198,679 (GRCm39) |
I65V |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,259 (GRCm39) |
D277G |
probably benign |
Het |
| Or4f17-ps1 |
A |
T |
2: 111,358,526 (GRCm39) |
E289V |
possibly damaging |
Het |
| Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,502,301 (GRCm39) |
S175A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,290,869 (GRCm39) |
K445E |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,271,705 (GRCm39) |
Y318H |
probably benign |
Het |
| Ret |
G |
T |
6: 118,153,252 (GRCm39) |
T472K |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,155,709 (GRCm39) |
D1343G |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,409,864 (GRCm38) |
R844S |
probably benign |
Het |
| Vmn1r171 |
T |
A |
7: 23,332,429 (GRCm39) |
M218K |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,695,033 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
T |
A |
14: 75,568,149 (GRCm39) |
D1147E |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,135 (GRCm39) |
L1703H |
probably 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 |
|
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 |
|
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'- ACGGGCAAACCTTTGAAAAC -3'
(R):5'- GACGTGGATATCATTGTCTTTGCC -3'
Sequencing Primer
(F):5'- AACCTTGTCCCAGTGAGATG -3'
(R):5'- TGCCACGGGGTATACGTTCTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation