Mutagenetix > Incidental Mutation

Incidental Mutation 'R8015:Best2'

617133

Institutional Source

Beutler Lab

Gene Symbol

Best2

Ensembl Gene

ENSMUSG00000052819

Gene Name

bestrophin 2

Synonyms

Vmd2l1

MMRRC Submission

067455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R8015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85733831-85741160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85735983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 317 (V317A)

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: V317A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: V317A

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: V317A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209421
AA Change: V317A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alad	A	G	4: 62,430,159 (GRCm39)	V121A	probably damaging	Het
Anapc2	T	A	2: 25,174,688 (GRCm39)	Y684N	probably benign	Het
Atp10a	G	T	7: 58,453,245 (GRCm39)	R808L	probably benign	Het
Bmal2	T	C	6: 146,722,088 (GRCm39)	S220P	probably damaging	Het
Cacnb4	A	G	2: 52,354,655 (GRCm39)	L241P	probably damaging	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Defb13	G	T	8: 22,436,828 (GRCm39)	V8F	possibly damaging	Het
Dpp6	C	T	5: 27,022,808 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,036,065 (GRCm39)	D3239G	possibly damaging	Het
Hmcn1	T	G	1: 150,474,062 (GRCm39)	R4793S	possibly damaging	Het
Hspa1a	T	A	17: 35,189,625 (GRCm39)	Q426L	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Il20rb	T	A	9: 100,356,947 (GRCm39)	Y61F	probably damaging	Het
Iqcn	C	T	8: 71,169,441 (GRCm39)	S1177L	probably benign	Het
Itgb1	T	A	8: 129,448,882 (GRCm39)	V496D	possibly damaging	Het
Jakmip1	T	C	5: 37,317,109 (GRCm39)	S102P	unknown	Het
Jmjd8	T	A	17: 26,048,302 (GRCm39)	F108I	probably damaging	Het
Krtap15-1	A	G	16: 88,626,097 (GRCm39)	T55A	possibly damaging	Het
Lce3d	A	T	3: 92,865,810 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,766,761 (GRCm39)	V702F	probably damaging	Het
Lox	G	A	18: 52,661,420 (GRCm39)	A218V	probably benign	Het
Mcrs1	T	A	15: 99,146,735 (GRCm39)	K99*	probably null	Het
Mfsd8	G	A	3: 40,801,270 (GRCm39)		probably benign	Het
Msto1	G	T	3: 88,818,863 (GRCm39)	P264Q	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or2ad1	T	C	13: 21,326,303 (GRCm39)	D308G	probably benign	Het
Or5g25	G	T	2: 85,478,136 (GRCm39)	H176Q	probably damaging	Het
Pate2	A	T	9: 35,581,814 (GRCm39)	H36L	probably damaging	Het
Pate9	A	G	9: 36,446,250 (GRCm39)	V54A	probably benign	Het
Phf20l1	T	G	15: 66,511,797 (GRCm39)	N925K	possibly damaging	Het
Pnliprp2	G	T	19: 58,754,714 (GRCm39)	V253F	probably damaging	Het
Polr2b	A	G	5: 77,484,353 (GRCm39)	D745G	probably damaging	Het
Ptdss1	T	A	13: 67,111,407 (GRCm39)	W158R	possibly damaging	Het
Rcn3	T	A	7: 44,734,331 (GRCm39)	I226F	probably damaging	Het
Rhbdl1	C	G	17: 26,054,825 (GRCm39)	V157L	probably damaging	Het
Slc30a2	A	G	4: 134,074,761 (GRCm39)	T173A	probably benign	Het
Spata16	A	G	3: 26,721,808 (GRCm39)	T110A	probably benign	Het
Specc1l	A	G	10: 75,076,902 (GRCm39)	K53E	probably benign	Het
Speg	G	T	1: 75,392,065 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,067,737 (GRCm39)	C2055S	probably damaging	Het
Tex14	G	A	11: 87,400,426 (GRCm39)	R406Q	probably benign	Het
Tmem150b	C	T	7: 4,719,327 (GRCm39)	G198S	probably null	Het
Tnfrsf14	T	G	4: 155,011,118 (GRCm39)	Q81P	probably damaging	Het
Txndc17	A	G	11: 72,098,568 (GRCm39)	K40R	probably benign	Het
Ube3a	T	A	7: 58,934,504 (GRCm39)	V560E	probably damaging	Het
Vmn1r14	A	G	6: 57,211,015 (GRCm39)	M198V	probably damaging	Het
Vmn2r23	G	A	6: 123,681,500 (GRCm39)	S136N	probably benign	Het
Vmn2r31	C	T	7: 7,387,199 (GRCm39)	V791I	probably damaging	Het
Wdfy4	T	C	14: 32,829,704 (GRCm39)	Y984C		Het
Zfp386	T	G	12: 116,023,027 (GRCm39)	D248E	probably damaging	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
R7782:Best2	UTSW	8	85,736,143 (GRCm39)	missense	probably damaging	1.00
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'- CAGACCGTAGACCCTTCTAAGC -3'
(R):5'- GACGACTTTGAGACCAACTTTC -3'

Sequencing Primer
(F):5'- GTAGACCCTTCTAAGCCTGCAGAG -3'
(R):5'- GAGACCAACTTTCTTATTGACCG -3'

Posted On

2020-01-23