Mutagenetix > Incidental Mutation

Incidental Mutation 'R6149:Best2'

489075

Institutional Source

Beutler Lab

Gene Symbol

Best2

Ensembl Gene

ENSMUSG00000052819

Gene Name

bestrophin 2

Synonyms

Vmd2l1

MMRRC Submission

044296-MU

Accession Numbers

Essential gene?

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

Stock #

R6149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85733831-85741160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85739896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 57 (E57G)

Ref Sequence

ENSEMBL: ENSMUSP00000147837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059072] [ENSMUST00000064314] [ENSMUST00000209322] [ENSMUST00000209421]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059072
AA Change: E57G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: E57G

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: ENSMUST00000064314

SMART Domains

Protein: ENSMUSP00000065337
Gene: ENSMUSG00000052456

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:ArsA_ATPase	37	340	2.2e-127	PFAM
Pfam:CbiA	39	311	5.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209322
AA Change: E57G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000209421
AA Change: E57G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,777,211 (GRCm39)	R115S	probably benign	Het
Adgre1	A	G	17: 57,752,018 (GRCm39)	K589E	probably benign	Het
Adgrv1	A	T	13: 81,330,893 (GRCm39)	L74Q	probably damaging	Het
Avil	A	G	10: 126,842,451 (GRCm39)	I77V	probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Catsperb	T	A	12: 101,516,098 (GRCm39)	I578K	probably damaging	Het
Chsy1	A	G	7: 65,775,133 (GRCm39)	Y154C	probably damaging	Het
Chuk	A	G	19: 44,090,270 (GRCm39)	V74A	probably damaging	Het
Ckb	T	C	12: 111,638,248 (GRCm39)	S49G	probably damaging	Het
Crtac1	A	G	19: 42,272,048 (GRCm39)	Y632H	unknown	Het
Ern1	C	A	11: 106,296,641 (GRCm39)	E770*	probably null	Het
Fam114a2	A	C	11: 57,378,415 (GRCm39)	V450G	probably benign	Het
Fgf15	C	T	7: 144,453,506 (GRCm39)	Q125*	probably null	Het
Frem2	A	T	3: 53,458,762 (GRCm39)	S2036T	probably damaging	Het
Fxr2	G	A	11: 69,540,030 (GRCm39)	V296I	probably benign	Het
Gm15264	C	A	3: 94,640,736 (GRCm39)		noncoding transcript	Het
Ifi213	A	T	1: 173,421,581 (GRCm39)	S103T	probably benign	Het
Igkv5-37	T	A	6: 69,940,472 (GRCm39)	Q57H	probably damaging	Het
Il1rap	A	G	16: 26,530,969 (GRCm39)	Y435C	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lcor	T	A	19: 41,573,641 (GRCm39)	W799R	probably damaging	Het
Lnp1	C	T	16: 56,737,735 (GRCm39)	E118K	probably benign	Het
Lrif1	A	C	3: 106,639,643 (GRCm39)	K243Q	possibly damaging	Het
Lrp1b	G	T	2: 40,765,165 (GRCm39)		probably null	Het
Lvrn	G	A	18: 47,017,499 (GRCm39)	V610I	probably benign	Het
Med1	T	C	11: 98,074,679 (GRCm39)	K67R	possibly damaging	Het
Midn	T	C	10: 79,990,291 (GRCm39)	S278P	probably damaging	Het
Nrap	A	G	19: 56,377,885 (GRCm39)	V35A	possibly damaging	Het
Nynrin	A	T	14: 56,091,780 (GRCm39)	Q32L	possibly damaging	Het
Oog1	C	T	12: 87,653,043 (GRCm39)	T113I	possibly damaging	Het
Or10ak7	A	G	4: 118,791,628 (GRCm39)	L139P	probably damaging	Het
Or10j3	G	T	1: 173,031,582 (GRCm39)	V220F	probably benign	Het
Or4x11	C	T	2: 89,867,860 (GRCm39)	A199V	probably benign	Het
Or5b21	A	T	19: 12,839,723 (GRCm39)	I195F	probably benign	Het
Or6a2	T	C	7: 106,600,807 (GRCm39)	I87V	probably benign	Het
Otogl	C	T	10: 107,717,314 (GRCm39)	V386I	probably benign	Het
Patj	A	G	4: 98,312,562 (GRCm39)	N300S	possibly damaging	Het
Pcdhb16	T	A	18: 37,612,208 (GRCm39)	D389E	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,939 (GRCm39)	I699V	probably benign	Het
Pfas	A	G	11: 68,882,771 (GRCm39)	V790A	probably benign	Het
Plppr4	A	T	3: 117,116,043 (GRCm39)	C605S	probably benign	Het
Ppl	G	A	16: 4,925,460 (GRCm39)	Q60*	probably null	Het
Ppp1r1c	A	G	2: 79,586,810 (GRCm39)	K52R	possibly damaging	Het
Pramel29	A	G	4: 143,933,983 (GRCm39)	S375P	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rpe65	G	A	3: 159,319,780 (GRCm39)	E217K	probably benign	Het
Rufy4	T	C	1: 74,186,892 (GRCm39)	I560T	probably benign	Het
Ryr2	T	C	13: 11,683,903 (GRCm39)	S3054G	probably benign	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Sf3b1	A	T	1: 55,046,666 (GRCm39)	W293R	probably damaging	Het
Sik1	A	T	17: 32,067,771 (GRCm39)	S435T	possibly damaging	Het
Slc2a12	G	T	10: 22,540,401 (GRCm39)	M85I	probably benign	Het
Stk36	T	C	1: 74,673,388 (GRCm39)	S1094P	probably benign	Het
Tctn1	A	T	5: 122,384,649 (GRCm39)	Y393N	probably benign	Het
Tex9	C	T	9: 72,369,282 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,899,942 (GRCm39)		probably null	Het
Tmprss7	A	T	16: 45,494,268 (GRCm39)	C412*	probably null	Het
Tpp1	T	C	7: 105,396,934 (GRCm39)	T399A	probably benign	Het
Trim25	T	A	11: 88,906,362 (GRCm39)	V387D	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vill	T	G	9: 118,887,482 (GRCm39)	V82G	possibly damaging	Het
Vmn1r189	T	C	13: 22,286,054 (GRCm39)	D261G	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r111	G	A	17: 22,767,796 (GRCm39)	T567I	probably benign	Het
Vmn2r60	A	G	7: 41,786,400 (GRCm39)	Y401C	probably damaging	Het
Zc3h11a	G	A	1: 133,566,613 (GRCm39)	R69*	probably null	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
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'- TGGAGGTTAGATTCCCCACC -3'
(R):5'- AGCATCTACAAGCTCCTGTG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- ATCTACAAGCTCCTGTGGCGAG -3'

Posted On

2017-10-10