Mutagenetix > Incidental Mutation

Incidental Mutation 'R6857:Best2'

535319

Institutional Source

Beutler Lab

Gene Symbol

Best2

Ensembl Gene

ENSMUSG00000052819

Gene Name

bestrophin 2

Synonyms

Vmd2l1

MMRRC Submission

044959-MU

Accession Numbers

Essential gene?

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

Stock #

R6857 (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 85734452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 422 (V422A)

Ref Sequence

ENSEMBL: ENSMUSP00000147837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059072] [ENSMUST00000064495] [ENSMUST00000209322] [ENSMUST00000209421] [ENSMUST00000209764]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059072
AA Change: V422A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: V422A

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 benign
Transcript: ENSMUST00000064495

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566

Domain	Start	End	E-Value	Type
Pfam:HOOK	8	703	2.3e-277	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209322
AA Change: V422A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000209421
AA Change: V422A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000209764

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,110,514 (GRCm39)	L545P	possibly damaging	Het
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Ahnak	C	T	19: 9,014,532 (GRCm39)	Q119*	probably null	Het
Anxa10	C	A	8: 62,514,051 (GRCm39)	A239S	probably benign	Het
B020011L13Rik	A	T	1: 117,729,018 (GRCm39)	H175L	probably benign	Het
Cc2d2b	T	C	19: 40,759,309 (GRCm39)	F298S	possibly damaging	Het
Cd38	T	A	5: 44,063,540 (GRCm39)	M211K	probably damaging	Het
Cd3d	T	G	9: 44,896,902 (GRCm39)	M92R	probably damaging	Het
Cdk5rap2	C	A	4: 70,163,633 (GRCm39)	E1474*	probably null	Het
Clvs1	A	G	4: 9,449,433 (GRCm39)	K341E	probably benign	Het
Copg2	G	T	6: 30,840,533 (GRCm39)	D112E	possibly damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Dmxl1	A	T	18: 49,997,902 (GRCm39)	N697Y	probably damaging	Het
Dync1h1	T	C	12: 110,624,981 (GRCm39)	S3803P	possibly damaging	Het
Ecpas	T	A	4: 58,814,065 (GRCm39)	D1347V	probably damaging	Het
Epx	T	A	11: 87,760,781 (GRCm39)	K384*	probably null	Het
Fam135a	G	C	1: 24,053,870 (GRCm39)	D1222E	probably damaging	Het
Fndc1	T	A	17: 7,991,002 (GRCm39)	H898L	unknown	Het
Gapvd1	A	G	2: 34,618,389 (GRCm39)	I190T	probably damaging	Het
Hax1	T	G	3: 89,904,759 (GRCm39)	S122R	probably damaging	Het
Hdac9	T	G	12: 34,443,362 (GRCm39)	M272L	probably benign	Het
Itgb7	T	C	15: 102,131,900 (GRCm39)	S228G	probably damaging	Het
Itpr2	C	A	6: 146,298,517 (GRCm39)	E315*	probably null	Het
Kctd8	T	C	5: 69,454,045 (GRCm39)	N331D	probably benign	Het
Ky	G	A	9: 102,419,631 (GRCm39)	G546E	probably damaging	Het
Lao1	T	C	4: 118,821,023 (GRCm39)		probably null	Het
Mtmr12	T	A	15: 12,263,918 (GRCm39)	W427R	probably damaging	Het
Mxra8	A	G	4: 155,927,593 (GRCm39)	K434E	possibly damaging	Het
Myh4	T	C	11: 67,140,711 (GRCm39)	C676R	possibly damaging	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Or5w17	A	T	2: 87,583,831 (GRCm39)	C169S	probably damaging	Het
Or8b50	T	C	9: 38,518,307 (GRCm39)	L182P	probably benign	Het
Or8k35	A	T	2: 86,424,608 (GRCm39)	L188H	probably damaging	Het
Paqr5	G	T	9: 61,883,370 (GRCm39)	H41N	probably damaging	Het
Plekha8	T	C	6: 54,606,920 (GRCm39)	L405P	probably damaging	Het
Plpbp	A	G	8: 27,535,454 (GRCm39)	N79S	possibly damaging	Het
Plxnd1	G	T	6: 115,970,724 (GRCm39)	A348E	probably benign	Het
Prdm9	T	C	17: 15,764,518 (GRCm39)	Q754R	probably benign	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rgs12	A	T	5: 35,187,366 (GRCm39)	K213*	probably null	Het
Serpina3m	T	C	12: 104,355,585 (GRCm39)	L84P	probably damaging	Het
Tab2	T	C	10: 7,796,177 (GRCm39)	T102A	possibly damaging	Het
Tagln3	G	T	16: 45,544,599 (GRCm39)	A24E	probably benign	Het
Tanc2	A	G	11: 105,801,114 (GRCm39)	E1110G	possibly damaging	Het
Tcf3	T	C	10: 80,252,733 (GRCm39)		probably null	Het
Tmem14a	T	C	1: 21,299,769 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,748,275 (GRCm39)	E4258V	possibly damaging	Het
Ubr4	G	A	4: 139,213,362 (GRCm39)	D5104N	possibly damaging	Het
Ugt2b37	C	G	5: 87,388,705 (GRCm39)	A503P	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r88	A	T	7: 12,912,258 (GRCm39)	M205L	possibly damaging	Het
Vmn2r109	C	T	17: 20,760,932 (GRCm39)	M808I	probably benign	Het
Wdr72	G	T	9: 74,062,323 (GRCm39)	V490L	probably damaging	Het
Zfp1004	G	T	2: 150,033,982 (GRCm39)	C132F	probably damaging	Het
Zfp998	A	T	13: 66,580,161 (GRCm39)	H107Q	probably benign	Het
Zgrf1	T	A	3: 127,375,096 (GRCm39)	V785E	probably damaging	Het
Zswim7	A	T	11: 62,171,955 (GRCm39)		probably benign	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
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
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'- AAAGGTTCAGGAGTTGGCCC -3'
(R):5'- TGAAATGGAATAACACATCAACGCG -3'

Sequencing Primer
(F):5'- GAGTTGGCCCCGGGATG -3'
(R):5'- AAGGCTTCAGTGATGACTCC -3'

Posted On

2018-09-12