Mutagenetix > Incidental Mutation

Incidental Mutation 'R0928:Bco2'

80662

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) question?

Stock #

R0928 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50444387-50466481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50457231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 104 (T104S)

Ref Sequence

ENSEMBL: ENSMUSP00000112727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119103]

AlphaFold

Q99NF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000119103
AA Change: T104S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112727
Gene: ENSMUSG00000032066
AA Change: T104S

Domain	Start	End	E-Value	Type
Pfam:RPE65	14	531	1.3e-116	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 93.0%
20x: 75.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,388,333 (GRCm39)	D179V	probably benign	Het
Abcc1	T	C	16: 14,207,849 (GRCm39)		probably null	Het
Adad1	G	A	3: 37,130,889 (GRCm39)		probably null	Het
Apobec4	T	C	1: 152,632,028 (GRCm39)	Y19H	probably damaging	Het
Bnc1	A	G	7: 81,623,250 (GRCm39)	V659A	probably benign	Het
Ccdc168	C	A	1: 44,096,388 (GRCm39)	S1570I	possibly damaging	Het
Ccs	T	C	19: 4,875,988 (GRCm39)	E184G	probably damaging	Het
Cfap70	T	G	14: 20,493,987 (GRCm39)	K97N	probably damaging	Het
Cracdl	T	C	1: 37,663,663 (GRCm39)	D745G	possibly damaging	Het
Daam2	T	C	17: 49,795,255 (GRCm39)	I313V	probably benign	Het
Dach1	T	C	14: 98,153,268 (GRCm39)	S467G	probably damaging	Het
Dnah11	A	G	12: 118,009,297 (GRCm39)	S2122P	probably damaging	Het
Dnah3	T	A	7: 119,629,274 (GRCm39)	D1427V	probably damaging	Het
Dnai1	T	C	4: 41,602,566 (GRCm39)	F97L	possibly damaging	Het
Dsc1	A	T	18: 20,243,306 (GRCm39)		probably null	Het
En2	A	T	5: 28,375,329 (GRCm39)	K291*	probably null	Het
Eps15	T	C	4: 109,170,160 (GRCm39)	V154A	possibly damaging	Het
Etnk1	A	G	6: 143,130,429 (GRCm39)	I183V	probably benign	Het
Fcrlb	A	T	1: 170,735,509 (GRCm39)	V255D	possibly damaging	Het
Fry	A	T	5: 150,360,549 (GRCm39)	E52V	probably damaging	Het
Garre1	A	T	7: 33,947,671 (GRCm39)		probably null	Het
Gm57858	A	C	3: 36,079,515 (GRCm39)	N258K	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,777 (GRCm39)	Y152C	probably damaging	Het
Hao1	C	A	2: 134,347,536 (GRCm39)	L256F	possibly damaging	Het
Helz	T	A	11: 107,517,519 (GRCm39)	I685K	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Izumo2	A	T	7: 44,364,847 (GRCm39)	I171F	possibly damaging	Het
Krt87	C	A	15: 101,389,161 (GRCm39)	C57F	probably benign	Het
Mapkbp1	A	G	2: 119,845,849 (GRCm39)	H400R	probably benign	Het
Megf6	T	A	4: 154,261,504 (GRCm39)	V43E	probably damaging	Het
Mmut	T	C	17: 41,248,174 (GRCm39)	I67T	probably benign	Het
Ninl	A	T	2: 150,805,395 (GRCm39)	V396E	probably damaging	Het
Nvl	A	T	1: 180,921,467 (GRCm39)	V844E	probably benign	Het
Or2b6	C	T	13: 21,823,126 (GRCm39)	C189Y	probably damaging	Het
P2rx3	A	T	2: 84,865,642 (GRCm39)	M1K	probably null	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Ppp3r2	C	A	4: 49,681,439 (GRCm39)		probably null	Het
Prmt6	C	T	3: 110,157,998 (GRCm39)	G97D	probably damaging	Het
Prmt9	T	C	8: 78,307,805 (GRCm39)	V823A	probably damaging	Het
Skic3	T	G	13: 76,261,711 (GRCm39)	L142W	probably damaging	Het
Skint11	C	A	4: 114,101,798 (GRCm39)	D79E	possibly damaging	Het
Slc17a8	T	A	10: 89,434,545 (GRCm39)	H194L	probably damaging	Het
Slco6c1	T	A	1: 97,032,573 (GRCm39)	I293F	possibly damaging	Het
Tcl1b4	A	T	12: 105,168,865 (GRCm39)	H43L	probably benign	Het
Tm9sf1	T	C	14: 55,873,914 (GRCm39)	D528G	probably damaging	Het
Tpbpb	C	T	13: 61,049,989 (GRCm39)	V47I	probably benign	Het
Ttn	G	T	2: 76,737,876 (GRCm39)		probably benign	Het
Usp28	T	G	9: 48,942,191 (GRCm39)	S341A	possibly damaging	Het
Vwa5a	T	C	9: 38,639,303 (GRCm39)	Y345H	probably damaging	Het
Wdr11	C	A	7: 129,208,377 (GRCm39)	D377E	probably damaging	Het
Zer1	A	G	2: 29,991,775 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AACCAGGTAGCAGACATTGAGCAC -3'
(R):5'- GTAGCCCAGGGAATTGAGAACACTG -3'

Sequencing Primer
(F):5'- acccatcacagacacatacac -3'
(R):5'- TTGGATGGCAGAAATATCCCTCC -3'

Posted On

2013-11-07