Mutagenetix > Incidental Mutation

Incidental Mutation 'R7782:Best2'

599308

Institutional Source

Beutler Lab

Gene Symbol

Best2

Ensembl Gene

ENSMUSG00000052819

Gene Name

bestrophin 2

Synonyms

Vmd2l1

MMRRC Submission

045838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R7782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85733831-85741160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85736143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 312 (D312V)

Ref Sequence

ENSEMBL: ENSMUSP00000053408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059072] [ENSMUST00000209322] [ENSMUST00000209421]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059072
AA Change: D312V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: D312V

Domain	Start	End	E-Value	Type
Pfam:Bestrophin	8	316	5.8e-118	PFAM
low complexity region	340	352	N/A	INTRINSIC
low complexity region	408	417	N/A	INTRINSIC
low complexity region	428	447	N/A	INTRINSIC
low complexity region	457	479	N/A	INTRINSIC
low complexity region	484	501	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209322
AA Change: D312V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209421
AA Change: D312V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit ocular hypotension. Both heterozygous and homozygous null mice show a greater reduction in intraocular pressure following treatment with brinzolamide. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTATGTGTGT	GTGTGTGT	11: 43,478,239 (GRCm39)		probably null	Het
Adamts16	A	G	13: 70,984,265 (GRCm39)	S133P	probably damaging	Het
Adamts17	T	C	7: 66,774,802 (GRCm39)	W1001R	probably damaging	Het
Aox4	T	A	1: 58,270,251 (GRCm39)		probably null	Het
B4galnt4	C	T	7: 140,644,988 (GRCm39)	P221S	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
BC034090	T	C	1: 155,108,410 (GRCm39)		probably benign	Het
Bod1l	A	T	5: 41,975,286 (GRCm39)	D2009E	probably benign	Het
Ccdc158	A	C	5: 92,793,373 (GRCm39)	S672A	probably benign	Het
Ccdc43	A	T	11: 102,588,443 (GRCm39)	L31Q	probably damaging	Het
Cdcp3	G	A	7: 130,904,466 (GRCm39)		probably null	Het
Chaf1a	T	G	17: 56,369,291 (GRCm39)	H507Q	probably benign	Het
Clptm1l	A	G	13: 73,752,439 (GRCm39)	Y28C	probably damaging	Het
Cp	G	A	3: 20,029,223 (GRCm39)		probably null	Het
Crocc	C	T	4: 140,752,597 (GRCm39)	A1432T	probably benign	Het
Crybg2	A	G	4: 133,801,137 (GRCm39)	T457A	probably benign	Het
Csnk2a1-ps3	C	T	1: 156,352,552 (GRCm39)	T251I	probably damaging	Het
Dennd4a	A	G	9: 64,814,202 (GRCm39)	D1473G	probably damaging	Het
Diaph3	A	G	14: 87,274,940 (GRCm39)	F172S	probably benign	Het
Dnajc5b	A	G	3: 19,629,006 (GRCm39)	N100S	probably benign	Het
Dusp13b	G	A	14: 21,791,404 (GRCm39)	T16I	possibly damaging	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Fat1	A	G	8: 45,403,948 (GRCm39)	Y233C	probably damaging	Het
Fcgbp	T	A	7: 27,784,460 (GRCm39)	Y173*	probably null	Het
Fign	T	A	2: 63,809,506 (GRCm39)	D588V	probably damaging	Het
Fignl2	C	T	15: 100,951,188 (GRCm39)	V365M	unknown	Het
Fnip2	A	C	3: 79,415,430 (GRCm39)	Y203D	probably benign	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gfral	C	A	9: 76,100,572 (GRCm39)	V289L	probably benign	Het
H2bc21	T	A	3: 96,128,487 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,103,370 (GRCm39)	T1161K	probably damaging	Het
Hectd4	A	T	5: 121,443,784 (GRCm39)	I1335F	possibly damaging	Het
Htt	T	A	5: 35,040,336 (GRCm39)	V2166D	probably benign	Het
Ipo5	G	C	14: 121,170,537 (GRCm39)	K436N	possibly damaging	Het
Iqca1l	A	G	5: 24,749,224 (GRCm39)	L758P	probably damaging	Het
Itga6	A	G	2: 71,671,879 (GRCm39)	E794G	probably damaging	Het
Itga9	G	A	9: 118,672,712 (GRCm39)	C148Y		Het
Kcnip2	A	C	19: 45,785,524 (GRCm39)		probably null	Het
Kcnk6	T	C	7: 28,925,269 (GRCm39)	T116A	possibly damaging	Het
Kctd21	A	G	7: 96,997,297 (GRCm39)	I257V	probably benign	Het
Kif19a	G	A	11: 114,672,748 (GRCm39)	R299Q	probably damaging	Het
Kifc2	G	A	15: 76,548,328 (GRCm39)	G391R	probably benign	Het
Klrg2	A	G	6: 38,604,562 (GRCm39)	V381A	possibly damaging	Het
Mob1b	A	G	5: 88,897,542 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,584,106 (GRCm39)	Y221H	probably damaging	Het
Or6c69	T	G	10: 129,747,392 (GRCm39)	S252R	probably damaging	Het
Or6c75	T	C	10: 129,337,020 (GRCm39)	V81A	probably benign	Het
Or7c70	T	C	10: 78,683,447 (GRCm39)	I101V	probably benign	Het
Oxsm	C	A	14: 16,240,925 (GRCm38)	A375S	possibly damaging	Het
Pcdha3	T	C	18: 37,081,193 (GRCm39)	V645A	probably damaging	Het
Pcdhb15	T	A	18: 37,607,788 (GRCm39)	V340E	possibly damaging	Het
Pced1a	G	A	2: 130,264,435 (GRCm39)	P132S	probably damaging	Het
Pla2r1	C	T	2: 60,334,531 (GRCm39)	V414M	probably benign	Het
Plekhg4	A	C	8: 106,104,399 (GRCm39)	I493L	probably benign	Het
Plekhj1	T	A	10: 80,634,179 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,254,412 (GRCm39)	K482N	probably damaging	Het
Ppil3	T	C	1: 58,473,574 (GRCm39)	N92S	probably benign	Het
Ppt2	A	G	17: 34,844,686 (GRCm39)	S156P	probably benign	Het
Prss41	A	T	17: 24,056,087 (GRCm39)	D255E	probably benign	Het
Psg25	T	A	7: 18,255,227 (GRCm39)	M430L	probably benign	Het
Rffl	A	T	11: 82,703,595 (GRCm39)	C109*	probably null	Het
Rock2	A	G	12: 17,021,111 (GRCm39)	E991G	probably benign	Het
Rpap2	A	G	5: 107,768,058 (GRCm39)	I299V	probably benign	Het
Rras	T	C	7: 44,670,529 (GRCm39)	S158P	probably benign	Het
Serpinb10	G	A	1: 107,463,196 (GRCm39)		probably benign	Het
Smyd3	A	T	1: 178,799,859 (GRCm39)	I360N	possibly damaging	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Tasor	A	G	14: 27,193,901 (GRCm39)	T1034A	probably benign	Het
Tbc1d31	C	A	15: 57,821,764 (GRCm39)	T813K	possibly damaging	Het
Trav7n-4	A	G	14: 53,329,103 (GRCm39)	M38V	probably benign	Het
Tulp3	A	C	6: 128,301,943 (GRCm39)	N359K	possibly damaging	Het
Twf1	T	C	15: 94,480,654 (GRCm39)	K196E	probably benign	Het
Usp24	A	T	4: 106,173,771 (GRCm39)	N35Y	probably damaging	Het
Usp46	T	A	5: 74,162,772 (GRCm39)	E342D	probably benign	Het
Vps50	T	A	6: 3,532,202 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,330,308 (GRCm39)	I727N	possibly damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zfp11	A	T	5: 129,734,027 (GRCm39)	V478E	possibly damaging	Het
Zfp493	A	G	13: 67,935,123 (GRCm39)	K359E	probably benign	Het
Zfp536	T	C	7: 37,268,126 (GRCm39)	Y430C	probably damaging	Het
Zfpm1	A	G	8: 123,063,689 (GRCm39)	D916G	unknown	Het

Other mutations in Best2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01398:Best2	APN	8	85,735,956 (GRCm39)	missense	probably damaging	0.99
R1165:Best2	UTSW	8	85,737,789 (GRCm39)	missense	probably benign	0.06
R1446:Best2	UTSW	8	85,734,593 (GRCm39)	missense	probably benign	0.01
R1715:Best2	UTSW	8	85,737,852 (GRCm39)	missense	probably benign	0.41
R1928:Best2	UTSW	8	85,737,882 (GRCm39)	missense	probably benign	0.13
R1944:Best2	UTSW	8	85,737,390 (GRCm39)	critical splice donor site	probably null
R1951:Best2	UTSW	8	85,737,858 (GRCm39)	missense	possibly damaging	0.46
R2006:Best2	UTSW	8	85,739,818 (GRCm39)	critical splice donor site	probably null
R3691:Best2	UTSW	8	85,737,883 (GRCm39)	missense	probably benign	0.01
R3918:Best2	UTSW	8	85,736,353 (GRCm39)	missense	probably damaging	1.00
R4693:Best2	UTSW	8	85,737,832 (GRCm39)	missense	probably damaging	0.99
R6149:Best2	UTSW	8	85,739,896 (GRCm39)	missense	probably benign	0.00
R6696:Best2	UTSW	8	85,737,873 (GRCm39)	nonsense	probably null
R6857:Best2	UTSW	8	85,734,452 (GRCm39)	missense	probably benign	0.06
R6983:Best2	UTSW	8	85,736,405 (GRCm39)	missense	probably benign	0.01
R7008:Best2	UTSW	8	85,739,840 (GRCm39)	missense	possibly damaging	0.88
R7266:Best2	UTSW	8	85,734,393 (GRCm39)	missense	probably benign
R7417:Best2	UTSW	8	85,736,295 (GRCm39)	splice site	probably null
R8015:Best2	UTSW	8	85,735,983 (GRCm39)	missense	probably damaging	0.96
R8864:Best2	UTSW	8	85,735,942 (GRCm39)	missense	probably benign
R9072:Best2	UTSW	8	85,737,418 (GRCm39)	missense	probably damaging	1.00
R9515:Best2	UTSW	8	85,740,147 (GRCm39)	missense
R9614:Best2	UTSW	8	85,740,051 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AGCATGGACACCTGAGGATG -3'
(R):5'- TGCACAGGGCTACAAAGAC -3'

Sequencing Primer
(F):5'- ACACCTGAGGATGCGGAC -3'
(R):5'- ACCCTGGACCTATGCGTAC -3'

Posted On

2019-11-26