Incidental Mutation 'R5456:Bco2'
ID |
432758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bco2
|
Ensembl Gene |
ENSMUSG00000032066 |
Gene Name |
beta-carotene oxygenase 2 |
Synonyms |
Bcdo2, Bcmo2, beta-diox-II, B-diox-II, CMO2 |
MMRRC Submission |
043019-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R5456 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
50444387-50466481 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 50456644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119103]
|
AlphaFold |
Q99NF1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000119103
|
SMART Domains |
Protein: ENSMUSP00000112727 Gene: ENSMUSG00000032066
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
14 |
531 |
1.3e-116 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
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 |
IGL02793:Bco2
|
APN |
9 |
50,455,834 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTGAGATGCTAAAACTAAGGTAGG -3'
(R):5'- GGGGTAGACTGGAATTTTCTCCC -3'
Sequencing Primer
(F):5'- TGCTAAAACTAAGGTAGGAATTTGG -3'
(R):5'- CTCCCTTGGAGTATGTGCTCAATG -3'
|
Posted On |
2016-10-06 |