Incidental Mutation 'R3000:Bco2'
ID |
257256 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R3000 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
50444387-50466481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 50450229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 324
(D324Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119103]
|
AlphaFold |
Q99NF1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119103
AA Change: D324Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112727 Gene: ENSMUSG00000032066 AA Change: D324Y
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
14 |
531 |
1.3e-116 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank1 |
A |
G |
8: 23,609,447 (GRCm39) |
K1364E |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,307,755 (GRCm39) |
N331K |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,915,342 (GRCm39) |
*211R |
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
A |
T |
4: 129,619,456 (GRCm39) |
H228Q |
probably damaging |
Het |
Lrfn1 |
G |
A |
7: 28,166,832 (GRCm39) |
G742E |
probably damaging |
Het |
Lrrc45 |
T |
A |
11: 120,609,273 (GRCm39) |
D377E |
probably benign |
Het |
Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
Mcoln3 |
T |
A |
3: 145,839,662 (GRCm39) |
I338N |
possibly damaging |
Het |
Mep1b |
G |
A |
18: 21,226,361 (GRCm39) |
G408S |
probably damaging |
Het |
Pdlim5 |
C |
A |
3: 142,017,892 (GRCm39) |
Q125H |
probably damaging |
Het |
Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,460 (GRCm39) |
R4000H |
probably damaging |
Het |
Ripor3 |
A |
T |
2: 167,833,100 (GRCm39) |
Y357N |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,670,033 (GRCm39) |
D1679E |
probably benign |
Het |
Stac3 |
C |
T |
10: 127,344,016 (GRCm39) |
R305C |
probably benign |
Het |
Tex10 |
A |
T |
4: 48,459,393 (GRCm39) |
|
probably null |
Het |
Ttc21a |
T |
C |
9: 119,781,320 (GRCm39) |
Y498H |
probably benign |
Het |
Txnrd2 |
T |
C |
16: 18,273,263 (GRCm39) |
F239S |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,360,949 (GRCm39) |
L173Q |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,468,714 (GRCm39) |
N2982K |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCTCTCTAACAGTCCGTTAAG -3'
(R):5'- CCTCCTAACTTGAGCTTTGCAG -3'
Sequencing Primer
(F):5'- AGTCCGTTAAGTAATATACATCAAGC -3'
(R):5'- CAGCTTTATTTCTGAAAGGGGACC -3'
|
Posted On |
2015-01-11 |