Mutagenetix > Incidental Mutation

Incidental Mutation 'R1715:Best2'

190934

Institutional Source

Beutler Lab

Gene Symbol

Best2

Ensembl Gene

ENSMUSG00000052819

Gene Name

bestrophin 2

Synonyms

Vmd2l1

MMRRC Submission

039748-MU

Accession Numbers

Essential gene?

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

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85733831-85741160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85737852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 181 (Y181C)

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: Y181C

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: Y181C

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: Y181C

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000209421
AA Change: Y181C

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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
Abca8a	G	A	11: 109,982,406 (GRCm39)	T12M	probably damaging	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atp10a	G	A	7: 58,436,253 (GRCm39)	V348I	probably damaging	Het
Btaf1	T	A	19: 36,946,521 (GRCm39)	D442E	probably damaging	Het
Carmil3	T	G	14: 55,741,989 (GRCm39)	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,876,003 (GRCm39)	I993M	probably damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cip2a	C	T	16: 48,826,082 (GRCm39)	T383I	probably benign	Het
Cmtr2	T	C	8: 110,949,430 (GRCm39)	L580P	probably damaging	Het
Col22a1	T	C	15: 71,878,830 (GRCm39)	E109G	possibly damaging	Het
Cplane1	T	A	15: 8,256,384 (GRCm39)		probably null	Het
Crispld2	G	T	8: 120,750,388 (GRCm39)	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,393,239 (GRCm39)	H276R	probably benign	Het
Dag1	A	T	9: 108,085,914 (GRCm39)	V409E	possibly damaging	Het
Efcab15	T	C	11: 103,090,650 (GRCm39)		probably null	Het
Emc8	T	C	8: 121,385,294 (GRCm39)	N146S	probably benign	Het
Glt8d1	T	C	14: 30,733,478 (GRCm39)	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,492,776 (GRCm39)		noncoding transcript	Het
Hdac10	G	T	15: 89,010,912 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,482,881 (GRCm39)	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,738,473 (GRCm39)	S93L	probably damaging	Het
Il16	T	C	7: 83,297,936 (GRCm39)	N431S	probably benign	Het
Irf8	A	T	8: 121,481,127 (GRCm39)	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,075,993 (GRCm39)	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,524,073 (GRCm39)	N761D	probably damaging	Het
Mbtps1	T	C	8: 120,269,469 (GRCm39)	Y207C	probably benign	Het
Myo9a	A	G	9: 59,739,583 (GRCm39)	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,434,177 (GRCm39)	D80G	probably damaging	Het
Or12k8	G	A	2: 36,975,188 (GRCm39)	P191S	probably damaging	Het
Or2ag15	G	C	7: 106,340,755 (GRCm39)	P129A	probably damaging	Het
Or7g18	A	T	9: 18,787,090 (GRCm39)	I156F	probably benign	Het
Pcyt2	T	A	11: 120,506,677 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,945,642 (GRCm39)	T944A	probably benign	Het
Prss3b	A	G	6: 41,009,870 (GRCm39)		probably null	Het
Psd4	A	T	2: 24,295,344 (GRCm39)	I833F	probably damaging	Het
Psmd7	A	G	8: 108,307,817 (GRCm39)	I222T	probably benign	Het
Rap2b	A	G	3: 61,272,611 (GRCm39)	E45G	probably damaging	Het
Rbm22	T	C	18: 60,693,916 (GRCm39)	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfx4	A	G	10: 84,680,144 (GRCm39)	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192 (GRCm39)		probably null	Het
Rpgrip1	T	A	14: 52,378,148 (GRCm39)	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,414,870 (GRCm39)	S515P	probably damaging	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sis	T	C	3: 72,796,343 (GRCm39)	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 24,040,724 (GRCm39)	T317S	probably benign	Het
Slc35e1	T	C	8: 73,237,821 (GRCm39)	N340S	probably benign	Het
Smg6	A	G	11: 74,820,256 (GRCm39)	I176V	probably benign	Het
Smim17	T	C	7: 6,432,325 (GRCm39)	L89S	probably damaging	Het
Synm	T	C	7: 67,386,051 (GRCm39)	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,002,873 (GRCm39)	K841E	possibly damaging	Het
Tep1	G	T	14: 51,092,024 (GRCm39)	F570L	possibly damaging	Het
Tgm3	G	A	2: 129,868,734 (GRCm39)		probably null	Het
Tra2b	T	C	16: 22,071,496 (GRCm39)	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,576,110 (GRCm39)	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,274,088 (GRCm39)	D344V	probably damaging	Het
Zfp940	A	G	7: 29,544,363 (GRCm39)	C515R	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
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
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'- ACAACTGGGTAGGGTTACCACACAC -3'
(R):5'- AGCAGTCTTCAAACGGTTCCCCAC -3'

Sequencing Primer
(F):5'- TGCCCTCATGGAAATCTGGTAAG -3'
(R):5'- TGCGAGTAACGTTGGATCAC -3'

Posted On

2014-05-14