Mutagenetix > Incidental Mutation

Incidental Mutation 'R6983:Best2'

542792

Institutional Source

Beutler Lab

Gene Symbol

Best2

Ensembl Gene

ENSMUSG00000052819

Gene Name

bestrophin 2

Synonyms

Vmd2l1

MMRRC Submission

045090-MU

Accession Numbers

Essential gene?

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

Stock #

R6983 (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 85736405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 253 (I253F)

Ref Sequence

ENSEMBL: ENSMUSP00000147837 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059072
AA Change: I253F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: I253F

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: ENSMUST00000209322
AA Change: I253F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000209421
AA Change: I253F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,953,686 (GRCm39)	V530A	probably benign	Het
Adgrg6	T	C	10: 14,307,439 (GRCm39)	N816D	probably damaging	Het
Aebp2	T	C	6: 140,583,389 (GRCm39)	F288L	possibly damaging	Het
Afdn	T	C	17: 14,101,583 (GRCm39)	S1024P	probably damaging	Het
Akap6	A	C	12: 52,934,436 (GRCm39)	K643Q	probably damaging	Het
Atg2a	A	T	19: 6,310,070 (GRCm39)	D1751V	probably damaging	Het
Bmp1	G	T	14: 70,745,647 (GRCm39)	P55T	probably damaging	Het
C1s1	C	A	6: 124,517,855 (GRCm39)	V42F	possibly damaging	Het
Ccdc115	A	G	1: 34,478,122 (GRCm39)		probably null	Het
Cdc42bpg	C	T	19: 6,371,698 (GRCm39)	P1326S	probably damaging	Het
Cdhr3	G	A	12: 33,092,379 (GRCm39)	T744I	probably benign	Het
Cit	T	G	5: 116,132,150 (GRCm39)	L1745R	probably damaging	Het
Commd6	A	T	14: 101,874,488 (GRCm39)	S39T	probably damaging	Het
Crot	T	G	5: 9,028,280 (GRCm39)	Y223S	probably benign	Het
Crybg1	G	T	10: 43,875,338 (GRCm39)	A590D	probably damaging	Het
Cwf19l2	G	A	9: 3,477,817 (GRCm39)	E841K	probably damaging	Het
Dennd4c	T	C	4: 86,717,730 (GRCm39)	Y576H	probably damaging	Het
Diaph1	A	T	18: 38,022,822 (GRCm39)	V749E	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
F5	A	T	1: 164,021,698 (GRCm39)	D1391V	probably damaging	Het
Foxf2	T	A	13: 31,811,180 (GRCm39)	M373K	probably benign	Het
Fstl1	A	T	16: 37,651,980 (GRCm39)	E287D	probably benign	Het
Gltpd2	T	C	11: 70,411,110 (GRCm39)	Y134H	probably damaging	Het
Hemgn	T	A	4: 46,395,997 (GRCm39)	H413L	possibly damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Hykk	T	C	9: 54,853,793 (GRCm39)	S372P	probably benign	Het
Inava	A	G	1: 136,147,894 (GRCm39)	S353P	possibly damaging	Het
Ints10	T	C	8: 69,246,703 (GRCm39)	V11A	probably damaging	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Lamtor2	G	A	3: 88,460,146 (GRCm39)	Q9*	probably null	Het
Lonp2	T	A	8: 87,350,876 (GRCm39)	V22E	probably damaging	Het
Mad1l1	T	C	5: 140,179,739 (GRCm39)	E383G	probably damaging	Het
Man2b1	T	A	8: 85,817,700 (GRCm39)		probably null	Het
Mtch1	T	C	17: 29,557,750 (GRCm39)	I243V	probably damaging	Het
Myo18a	T	A	11: 77,736,341 (GRCm39)	M1546K	probably benign	Het
Ntf3	T	C	6: 126,078,808 (GRCm39)	T233A	probably damaging	Het
Omg	T	C	11: 79,392,764 (GRCm39)	S365G	probably benign	Het
Or52ad1	C	T	7: 102,996,022 (GRCm39)	V38I	probably benign	Het
Otol1	T	A	3: 69,935,374 (GRCm39)	N455K	probably damaging	Het
Pakap	T	A	4: 57,709,973 (GRCm39)	V306D	probably damaging	Het
Pde4dip	A	T	3: 97,625,552 (GRCm39)	Y1349N	probably damaging	Het
Pitpnm2	A	G	5: 124,271,469 (GRCm39)	L368P	probably damaging	Het
Pnpla8	T	A	12: 44,330,030 (GRCm39)	I194K	possibly damaging	Het
Podn	T	C	4: 107,881,470 (GRCm39)		probably null	Het
Potefam1	A	G	2: 111,058,595 (GRCm39)		probably null	Het
Pramel6	A	T	2: 87,339,923 (GRCm39)	E229V	possibly damaging	Het
Ptpro	C	T	6: 137,426,915 (GRCm39)	P262L	probably damaging	Het
Rnf122	A	T	8: 31,608,488 (GRCm39)	T19S	probably benign	Het
Shank2	T	A	7: 143,635,585 (GRCm39)	Y320N	possibly damaging	Het
Slc2a9	A	C	5: 38,549,064 (GRCm39)	I243S	probably damaging	Het
Slc5a6	A	T	5: 31,197,749 (GRCm39)	M130K	probably benign	Het
Stx5a	A	G	19: 8,732,533 (GRCm39)		probably benign	Het
Tbr1	G	T	2: 61,642,079 (GRCm39)	G185V	probably damaging	Het
Tg	A	G	15: 66,565,207 (GRCm39)	D1183G	probably benign	Het
Thbs1	A	T	2: 117,950,433 (GRCm39)	I689F	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trub2	A	T	2: 29,677,796 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,597,306 (GRCm39)	V19869A	probably damaging	Het
Tufm	T	C	7: 126,088,607 (GRCm39)	V303A	possibly damaging	Het
Vezf1	T	C	11: 87,964,145 (GRCm39)	I99T	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,118 (GRCm39)	V19A	probably benign	Het
Xpc	C	T	6: 91,481,005 (GRCm39)	R289K	probably damaging	Het
Zfp811	T	A	17: 33,016,406 (GRCm39)	K545*	probably null	Het
Zmiz2	G	A	11: 6,352,413 (GRCm39)	D623N	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
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'- AAAAGGGTTAATAAGCTGCTCTGCTAC -3'
(R):5'- GTAAGGGCTGAAAGTCAATTACAAC -3'

Sequencing Primer
(F):5'- CTCTGCTACCTGAGTTCAGAGAAG -3'
(R):5'- ACTCAATCACTCTGATGTTCAATGC -3'

Posted On

2018-11-28