Incidental Mutation 'R2208:Bco2'
| ID |
236782 |
| 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 |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50444387-50466481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50444755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 517
(V517A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034570]
[ENSMUST00000119103]
[ENSMUST00000213144]
[ENSMUST00000214873]
[ENSMUST00000215416]
|
| AlphaFold |
Q99NF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034570
|
| SMART Domains |
Protein: ENSMUSP00000034570
Gene: ENSMUSG00000032067
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTPS
|
12 |
144 |
2.5e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119103
AA Change: V517A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112727
Gene: ENSMUSG00000032066
AA Change: V517A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
14 |
531 |
1.3e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216197
|
| Meta Mutation Damage Score |
0.5080 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATGAGTCCTTAGGGGTCAG -3'
(R):5'- AGCGACTGGGCAAACATTTG -3'
Sequencing Primer
(F):5'- GTCAGGGTCAGGTCCAAACTAC -3'
(R):5'- CTAGGTGAGGCTTTGCAGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation