Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Bco2'

82877

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

039101-MU

Accession Numbers

Essential gene?

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

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50444387-50466481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50447615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 369 (D369E)

Ref Sequence

ENSEMBL: ENSMUSP00000112727 (fasta)

Gene Model

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

AlphaFold

Q99NF1

Predicted Effect

probably benign
Transcript: ENSMUST00000119103
AA Change: D369E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112727
Gene: ENSMUSG00000032066
AA Change: D369E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216563

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	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
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'- TGCAAACAAGTTTCCAGGACCTCAC -3'
(R):5'- AAAGGGGACCTTCTTTGCTTCCG -3'

Sequencing Primer
(F):5'- CAAGCTCGGCCAAATGTTATG -3'
(R):5'- GTTATGATCCCACCACTAGAATCTG -3'

Posted On

2013-11-08