Incidental Mutation 'R6219:Fmo2'
| ID |
503885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo2
|
| Ensembl Gene |
ENSMUSG00000040170 |
| Gene Name |
flavin containing monooxygenase 2 |
| Synonyms |
2310042I22Rik, 2310008D08Rik |
| MMRRC Submission |
044351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162701886-162726295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162708085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 350
(V350D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045902]
[ENSMUST00000111510]
|
| AlphaFold |
Q8K2I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045902
AA Change: V350D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: V350D
| 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: V350D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: V350D
| 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 |
0.5366 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
T |
C |
4: 136,190,059 (GRCm39) |
S147P |
unknown |
Het |
| Acat2 |
T |
C |
17: 13,179,604 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,792,553 (GRCm39) |
D349G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,445,678 (GRCm39) |
E523* |
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,375 (GRCm39) |
A52T |
possibly damaging |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cirop |
G |
T |
14: 54,933,116 (GRCm39) |
Q356K |
noncoding transcript |
Het |
| Cmya5 |
T |
C |
13: 93,230,951 (GRCm39) |
E1379G |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,558,189 (GRCm39) |
D822G |
possibly damaging |
Het |
| Cyp4a29 |
A |
C |
4: 115,106,927 (GRCm39) |
T195P |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,035,434 (GRCm39) |
T2283S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,745 (GRCm39) |
D2291G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,872,080 (GRCm39) |
L493F |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,876,520 (GRCm39) |
G227D |
probably damaging |
Het |
| Glis1 |
C |
T |
4: 107,489,102 (GRCm39) |
P487S |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm35315 |
G |
T |
5: 110,226,410 (GRCm39) |
T343K |
probably benign |
Het |
| Gpr141 |
A |
G |
13: 19,936,697 (GRCm39) |
I26T |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,446,941 (GRCm39) |
V311G |
possibly damaging |
Het |
| Ino80d |
C |
T |
1: 63,118,206 (GRCm39) |
E322K |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,121 (GRCm39) |
S1104P |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,097,851 (GRCm39) |
F1744L |
probably benign |
Het |
| Lcn10 |
A |
T |
2: 25,573,587 (GRCm39) |
R55* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,299,822 (GRCm39) |
C3077S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,566 (GRCm39) |
S826R |
probably benign |
Het |
| Nr2c1 |
G |
T |
10: 93,999,648 (GRCm39) |
V103L |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,663,612 (GRCm39) |
D310E |
possibly damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,093 (GRCm39) |
S219P |
possibly damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,359,187 (GRCm39) |
E112D |
probably damaging |
Het |
| Pira12 |
A |
T |
7: 3,897,640 (GRCm39) |
V485E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,153,594 (GRCm39) |
K2237E |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,466,940 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,459,770 (GRCm39) |
H1350L |
possibly damaging |
Het |
| Snx15 |
A |
G |
19: 6,171,538 (GRCm39) |
S179P |
probably damaging |
Het |
| Sp8 |
T |
G |
12: 118,812,402 (GRCm39) |
S86A |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,907,803 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,365,175 (GRCm39) |
S196P |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,530 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
T |
C |
19: 36,843,604 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,642,511 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
C |
A |
1: 37,139,779 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,078,340 (GRCm39) |
V312E |
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 |
|
R6087:Fmo2
|
UTSW |
1 |
162,708,002 (GRCm39) |
missense |
probably benign |
0.45 |
|
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'- ATGTAAAACTTCCGCTGAGTTG -3'
(R):5'- TGCCTCAGATACCTTATGAAAGAACC -3'
Sequencing Primer
(F):5'- AAACTTCCGCTGAGTTGAGCATC -3'
(R):5'- CAGATACCTTATGAAAGAACCTGTGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation