Mutagenetix > Incidental Mutation

Incidental Mutation 'R8005:Bco2'

616574

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

046045-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50444387-50466481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50450213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 329 (D329V)

Ref Sequence

ENSEMBL: ENSMUSP00000112727 (fasta)

Gene Model

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

AlphaFold

Q99NF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000119103
AA Change: D329V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112727
Gene: ENSMUSG00000032066
AA Change: D329V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,774 (GRCm39)	D294G	probably benign	Het
Ak8	A	T	2: 28,602,314 (GRCm39)	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,575,230 (GRCm39)	A154E	possibly damaging	Het
Anks1	A	G	17: 28,278,341 (GRCm39)	D1175G	probably damaging	Het
Ano4	T	A	10: 88,807,183 (GRCm39)	L799F	probably benign	Het
Aplp1	T	C	7: 30,135,470 (GRCm39)		probably null	Het
Apob	A	T	12: 8,059,744 (GRCm39)	H2742L	probably benign	Het
Apol7e	C	T	15: 77,602,277 (GRCm39)	Q292*	probably null	Het
Atp2b1	G	A	10: 98,830,661 (GRCm39)	G374D	probably damaging	Het
B4galt5	A	G	2: 167,143,384 (GRCm39)	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,882,456 (GRCm39)	T620A	probably benign	Het
Cd200l2	T	C	16: 45,352,400 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Copg2	T	A	6: 30,873,632 (GRCm39)	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,599 (GRCm39)	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,628,808 (GRCm39)	G1121C	probably damaging	Het
Gas2l1	A	T	11: 5,011,552 (GRCm39)	S426T	probably benign	Het
Gm9195	T	A	14: 72,663,840 (GRCm39)	I2740F	probably benign	Het
Irgm1	A	G	11: 48,757,217 (GRCm39)	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655 (GRCm39)	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Ly75	A	T	2: 60,163,278 (GRCm39)	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,232,722 (GRCm39)	H432R	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Nup54	T	C	5: 92,576,006 (GRCm39)	I162V	probably benign	Het
Obsl1	T	A	1: 75,482,096 (GRCm39)	N258I	probably damaging	Het
Or1j4	A	G	2: 36,740,156 (GRCm39)	T33A	probably benign	Het
Or2y1b	G	T	11: 49,208,968 (GRCm39)	M198I	probably benign	Het
Or5p6	T	C	7: 107,631,470 (GRCm39)	R27G	possibly damaging	Het
Or5p73	T	C	7: 108,064,693 (GRCm39)	V54A	probably benign	Het
Pax2	G	A	19: 44,749,328 (GRCm39)	V20M	probably damaging	Het
Pigb	A	T	9: 72,922,546 (GRCm39)	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pik3c2a	T	C	7: 116,017,271 (GRCm39)	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,599,067 (GRCm39)	D61V	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pramel17	A	G	4: 101,694,448 (GRCm39)	V145A	probably damaging	Het
Prss46	A	G	9: 110,685,144 (GRCm39)	D256G	probably benign	Het
Rims1	G	T	1: 22,482,437 (GRCm39)	D196E		Het
Sbf1	A	G	15: 89,178,408 (GRCm39)	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,068,479 (GRCm39)	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,589,395 (GRCm39)	M51L	probably damaging	Het
Slitrk1	T	C	14: 109,150,697 (GRCm39)	I5V	probably benign	Het
Spart	T	A	3: 55,024,773 (GRCm39)	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303 (GRCm39)	R119K	possibly damaging	Het
Tasor2	C	T	13: 3,625,681 (GRCm39)	S1423N	probably benign	Het
Tbcc	T	C	17: 47,201,686 (GRCm39)	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,872,684 (GRCm39)	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,216,755 (GRCm39)	I170V	probably benign	Het
Ticrr	T	G	7: 79,343,796 (GRCm39)	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,130,507 (GRCm39)	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821 (GRCm39)	S771P	probably damaging	Het
Tsc2	G	A	17: 24,818,570 (GRCm39)	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,139,941 (GRCm39)	Y1175N	probably damaging	Het
Usp25	G	A	16: 76,873,956 (GRCm39)	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,563,124 (GRCm39)	Y58*	probably null	Het
Wt1	T	C	2: 104,957,789 (GRCm39)		probably null	Het
Zfp735	A	T	11: 73,603,140 (GRCm39)	K695*	probably null	Het
Zkscan14	A	G	5: 145,132,568 (GRCm39)	F321S	possibly damaging	Het
Zswim9	T	C	7: 12,995,064 (GRCm39)	E364G	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
R5458:Bco2	UTSW	9	50,456,644 (GRCm39)	splice site	probably null
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'- TGCTCTCTAACAGTCCGTTAAG -3'
(R):5'- GTGCATATCCTCCTAACTTGAGC -3'

Sequencing Primer
(F):5'- AGTCCGTTAAGTAATATACATCAAGC -3'
(R):5'- CAGCTTTATTTCTGAAAGGGGACC -3'

Posted On

2020-01-23