Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Bco2'

725437

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

Accession Numbers

Essential gene?

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

Stock #

R9630 (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 C at 50456757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 128 (T128A)

Ref Sequence

ENSEMBL: ENSMUSP00000112727 (fasta)

Gene Model

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

AlphaFold

Q99NF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119103
AA Change: T128A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112727
Gene: ENSMUSG00000032066
AA Change: T128A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,952,756 (GRCm39)	D227G	probably damaging	Het
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Ccdc8	A	G	7: 16,728,733 (GRCm39)	K74R	possibly damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Ifitm10	C	T	7: 141,924,909 (GRCm39)	A48T	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or6c33	T	C	10: 129,853,410 (GRCm39)	F60S	probably damaging	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Slc22a23	T	C	13: 34,379,390 (GRCm39)	N459S	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	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
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
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'- TGGGGATGAACCTCTGACTC -3'
(R):5'- AGCCCTTAACATGACAGGGATC -3'

Sequencing Primer
(F):5'- GGGATGAACCTCTGACTCCTTTAG -3'
(R):5'- ATCCCACGGAGCTGGTATTACAG -3'

Posted On

2022-09-12