Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Bco2'

432882

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

043021-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5458 (G1)

Quality Score

225

Status

Validated

Chromosome

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,027,013 (GRCm39)		probably benign	Het
Acsl5	A	G	19: 55,282,662 (GRCm39)	D589G	probably damaging	Het
Akap13	T	A	7: 75,236,049 (GRCm39)	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,325,636 (GRCm39)	R512K	probably benign	Het
Ankhd1	T	C	18: 36,781,538 (GRCm39)	S2197P	probably benign	Het
Ankrd27	A	G	7: 35,291,236 (GRCm39)	N11D	probably damaging	Het
Aspg	T	C	12: 112,086,436 (GRCm39)	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,291,924 (GRCm39)	Y709*	probably null	Het
Atp8b2	T	C	3: 89,853,329 (GRCm39)	N748D	probably benign	Het
B4galnt3	A	G	6: 120,187,346 (GRCm39)	V684A	probably damaging	Het
Bcr	T	C	10: 74,990,792 (GRCm39)	V766A	probably benign	Het
Brca1	T	C	11: 101,408,111 (GRCm39)	N1404S	possibly damaging	Het
Cfap251	A	G	5: 123,392,508 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,958,811 (GRCm39)	D621G	probably damaging	Het
Chek1	A	G	9: 36,625,725 (GRCm39)	S307P	probably benign	Het
Dhx29	T	C	13: 113,103,155 (GRCm39)	M1345T	probably benign	Het
Dnah6	T	A	6: 73,063,168 (GRCm39)	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,368,114 (GRCm39)	V753A	probably damaging	Het
Fat1	T	C	8: 45,466,090 (GRCm39)	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,814,980 (GRCm39)	Q445R	probably benign	Het
Fv1	A	G	4: 147,954,726 (GRCm39)	S431G	probably benign	Het
Gm5965	A	T	16: 88,575,395 (GRCm39)	R189S	probably benign	Het
Gnas	A	G	2: 174,140,124 (GRCm39)	I98V	probably benign	Het
Ino80	T	C	2: 119,242,910 (GRCm39)	N1086D	possibly damaging	Het
Lclat1	T	C	17: 73,546,914 (GRCm39)	L277P	probably damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,250,361 (GRCm39)	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,258,201 (GRCm39)	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,718,726 (GRCm39)	Q285K	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pax5	T	C	4: 44,679,526 (GRCm39)	D172G	probably damaging	Het
Pcdh15	T	A	10: 74,340,611 (GRCm39)	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,016,230 (GRCm39)	S964G	probably benign	Het
Phip	G	T	9: 82,808,553 (GRCm39)	P474Q	probably benign	Het
Pop5	C	T	5: 115,378,496 (GRCm39)		probably benign	Het
Ppfibp1	A	T	6: 146,913,933 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,235,279 (GRCm39)	A106T	probably benign	Het
Rin3	A	G	12: 102,339,975 (GRCm39)	T642A	probably damaging	Het
Scmh1	C	T	4: 120,362,478 (GRCm39)		probably benign	Het
Skint2	A	G	4: 112,481,377 (GRCm39)	H80R	possibly damaging	Het
Spata16	A	T	3: 26,831,686 (GRCm39)	N265I	probably damaging	Het
Srpk1	T	C	17: 28,818,446 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,663,476 (GRCm39)	T135A	probably benign	Het
Trappc12	A	G	12: 28,796,389 (GRCm39)	V381A	probably damaging	Het
Trim33	T	A	3: 103,237,496 (GRCm39)	I184K	possibly damaging	Het
Unc13a	C	T	8: 72,116,889 (GRCm39)	V62M	probably damaging	Het
Vrk2	A	G	11: 26,448,919 (GRCm39)	V225A	probably damaging	Het
Wdr95	C	T	5: 149,487,879 (GRCm39)	P171L	probably damaging	Het
Wsb1	T	C	11: 79,139,262 (GRCm39)	T75A	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
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
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'- CATCCTTGAGATGCTAAAACTAAGG -3'
(R):5'- GGGGTAGACTGGAATTTTCTCCC -3'

Sequencing Primer
(F):5'- TGCTAAAACTAAGGTAGGAATTTGG -3'
(R):5'- CTCCCTTGGAGTATGTGCTCAATG -3'

Posted On

2016-10-06