Incidental Mutation 'IGL02793:Bco2'
ID |
359836 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bco2
|
Ensembl Gene |
ENSMUSG00000032066 |
Gene Name |
beta-carotene oxygenase 2 |
Synonyms |
Bcdo2, Bcmo2, beta-diox-II, B-diox-II, CMO2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02793
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
50444387-50466481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 50455834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 173
(V173E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119103]
|
AlphaFold |
Q99NF1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119103
AA Change: V173E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112727 Gene: ENSMUSG00000032066 AA Change: V173E
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
14 |
531 |
1.3e-116 |
PFAM |
|
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 an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased spleen weight, decreased testis and seminal vesicle weight, and increased tissue lycopene and beta-carotene levels when fed diets containing tomato powder or lycopene. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
Cdh15 |
T |
A |
8: 123,587,721 (GRCm39) |
V215E |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,432,144 (GRCm39) |
I1003N |
possibly damaging |
Het |
Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
Dnajb13 |
C |
T |
7: 100,156,648 (GRCm39) |
D143N |
probably damaging |
Het |
Fabp3-ps1 |
T |
A |
10: 86,567,943 (GRCm39) |
|
probably benign |
Het |
Gid4 |
G |
A |
11: 60,323,256 (GRCm39) |
R116Q |
probably benign |
Het |
Hectd2 |
A |
G |
19: 36,564,821 (GRCm39) |
E34G |
probably damaging |
Het |
Hyal6 |
A |
T |
6: 24,734,378 (GRCm39) |
K104* |
probably null |
Het |
Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,962,072 (GRCm39) |
M1499V |
probably damaging |
Het |
Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
Lrrc2 |
T |
C |
9: 110,808,695 (GRCm39) |
|
probably null |
Het |
Map2k5 |
T |
C |
9: 63,164,321 (GRCm39) |
I328V |
probably benign |
Het |
Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
Ndrg3 |
A |
G |
2: 156,791,952 (GRCm39) |
|
probably null |
Het |
Ndufa10 |
A |
C |
1: 92,397,639 (GRCm39) |
Y136D |
probably damaging |
Het |
Or10ak9 |
A |
T |
4: 118,726,794 (GRCm39) |
D271V |
probably damaging |
Het |
Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
Or8g34 |
A |
G |
9: 39,372,802 (GRCm39) |
E22G |
probably benign |
Het |
Rab18 |
T |
C |
18: 6,788,474 (GRCm39) |
|
probably benign |
Het |
Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
Rrp12 |
A |
G |
19: 41,860,005 (GRCm39) |
L1025P |
probably damaging |
Het |
Rtca |
A |
G |
3: 116,286,726 (GRCm39) |
F302S |
probably damaging |
Het |
Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
T |
6: 48,464,828 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
Sval2 |
A |
C |
6: 41,838,795 (GRCm39) |
Y11S |
probably benign |
Het |
Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
Tlr4 |
A |
C |
4: 66,757,681 (GRCm39) |
H158P |
probably damaging |
Het |
Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
Xdh |
T |
C |
17: 74,207,576 (GRCm39) |
E927G |
probably damaging |
Het |
Yap1 |
T |
C |
9: 7,973,907 (GRCm39) |
N178S |
probably benign |
Het |
|
Other mutations in Bco2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01807:Bco2
|
APN |
9 |
50,457,158 (GRCm39) |
splice site |
probably benign |
|
IGL01967:Bco2
|
APN |
9 |
50,446,809 (GRCm39) |
missense |
probably damaging |
0.97 |
R0523:Bco2
|
UTSW |
9 |
50,445,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R0928:Bco2
|
UTSW |
9 |
50,457,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0972:Bco2
|
UTSW |
9 |
50,447,615 (GRCm39) |
missense |
probably benign |
0.00 |
R1546:Bco2
|
UTSW |
9 |
50,461,929 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1795:Bco2
|
UTSW |
9 |
50,452,469 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1892:Bco2
|
UTSW |
9 |
50,461,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Bco2
|
UTSW |
9 |
50,457,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R2208:Bco2
|
UTSW |
9 |
50,444,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R3000:Bco2
|
UTSW |
9 |
50,450,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Bco2
|
UTSW |
9 |
50,456,666 (GRCm39) |
missense |
probably benign |
|
R5456:Bco2
|
UTSW |
9 |
50,456,644 (GRCm39) |
splice site |
probably null |
|
R5458:Bco2
|
UTSW |
9 |
50,456,644 (GRCm39) |
splice site |
probably null |
|
R8005:Bco2
|
UTSW |
9 |
50,450,213 (GRCm39) |
missense |
probably damaging |
0.99 |
R8399:Bco2
|
UTSW |
9 |
50,452,418 (GRCm39) |
missense |
probably benign |
0.25 |
R8680:Bco2
|
UTSW |
9 |
50,461,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Bco2
|
UTSW |
9 |
50,461,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R9166:Bco2
|
UTSW |
9 |
50,447,667 (GRCm39) |
missense |
probably benign |
0.03 |
R9391:Bco2
|
UTSW |
9 |
50,446,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9532:Bco2
|
UTSW |
9 |
50,457,371 (GRCm39) |
missense |
probably benign |
0.23 |
R9630:Bco2
|
UTSW |
9 |
50,456,757 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9689:Bco2
|
UTSW |
9 |
50,445,938 (GRCm39) |
missense |
probably damaging |
0.99 |
RF015:Bco2
|
UTSW |
9 |
50,457,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |