Incidental Mutation 'R7266:Best2'
ID 564937
Institutional Source Beutler Lab
Gene Symbol Best2
Ensembl Gene ENSMUSG00000052819
Gene Name bestrophin 2
Synonyms Vmd2l1
MMRRC Submission 045389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R7266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 85733831-85741160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85734393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 442 (V442I)
Ref Sequence ENSEMBL: ENSMUSP00000053408 (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: V442I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: V442I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:HOOK 8 703 2.3e-277 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209322
AA Change: V442I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209421
AA Change: V442I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209764
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,157,639 (GRCm39) I104F probably benign Het
Adgrg7 C T 16: 56,590,674 (GRCm39) V166I probably benign Het
Agfg1 G T 1: 82,859,966 (GRCm39) V278L probably benign Het
Alpk3 A G 7: 80,742,328 (GRCm39) E715G possibly damaging Het
Ap2m1 A G 16: 20,362,095 (GRCm39) Y401C probably damaging Het
Arhgef28 C T 13: 98,101,960 (GRCm39) S838N probably benign Het
Ash2l A T 8: 26,317,233 (GRCm39) Y373* probably null Het
Col4a2 T C 8: 11,475,542 (GRCm39) probably null Het
Fat2 T A 11: 55,175,856 (GRCm39) D1619V probably damaging Het
Fer1l6 A T 15: 58,499,446 (GRCm39) N1272I probably benign Het
Gcc1 T A 6: 28,417,995 (GRCm39) *779C probably null Het
Gm12216 G A 11: 53,750,077 (GRCm39) probably benign Het
Grm2 C T 9: 106,524,370 (GRCm39) V311I Het
Immt T A 6: 71,851,689 (GRCm39) D683E probably benign Het
Itga8 T G 2: 12,237,712 (GRCm39) D336A probably damaging Het
Jhy T C 9: 40,872,453 (GRCm39) T19A probably benign Het
Kcnq2 T C 2: 180,776,885 (GRCm39) M1V probably null Het
Kctd17 A T 15: 78,317,214 (GRCm39) I117F probably damaging Het
Lrp6 T C 6: 134,484,364 (GRCm39) T420A probably damaging Het
Manba T C 3: 135,223,673 (GRCm39) S187P probably damaging Het
Mef2b A T 8: 70,616,938 (GRCm39) D13V probably damaging Het
Mical2 T C 7: 111,902,963 (GRCm39) F145L probably damaging Het
Mphosph8 T A 14: 56,922,497 (GRCm39) D551E possibly damaging Het
Mplkipl1 A G 19: 61,163,973 (GRCm39) V154A possibly damaging Het
Myo10 C G 15: 25,783,067 (GRCm39) R1170G probably damaging Het
Myo16 A C 8: 10,322,687 (GRCm39) Q39P unknown Het
Myo1f A G 17: 33,820,668 (GRCm39) E837G probably benign Het
Nell2 T A 15: 95,333,274 (GRCm39) I128F possibly damaging Het
Or1i2 A G 10: 78,448,448 (GRCm39) V9A probably benign Het
Pcdh15 A T 10: 74,215,222 (GRCm39) R659* probably null Het
Pcdhga1 A G 18: 37,973,028 (GRCm39) Q881R possibly damaging Het
Plekhm2 T G 4: 141,369,770 (GRCm39) E75A possibly damaging Het
Prc1 A G 7: 79,957,405 (GRCm39) K357E possibly damaging Het
Pxk T A 14: 8,146,220 (GRCm38) C377S probably benign Het
Ralgapa2 T C 2: 146,176,488 (GRCm39) E1696G probably damaging Het
Rbbp6 T A 7: 122,600,590 (GRCm39) S1532R unknown Het
Scn5a G T 9: 119,391,626 (GRCm39) A22E probably benign Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Siae T C 9: 37,534,309 (GRCm39) V115A probably damaging Het
Slc16a6 A G 11: 109,344,107 (GRCm39) C563R probably benign Het
Sntg1 A C 1: 8,752,243 (GRCm39) V58G possibly damaging Het
Snx11 C T 11: 96,663,985 (GRCm39) V36M probably damaging Het
Stk3 C A 15: 34,959,182 (GRCm39) S330I probably benign Het
Synpo A G 18: 60,762,631 (GRCm39) F92S probably benign Het
Tle1 A G 4: 72,057,924 (GRCm39) probably null Het
Tmem117 A G 15: 94,829,684 (GRCm39) D173G possibly damaging Het
Tmem217b C A 17: 29,738,347 (GRCm39) V140L probably benign Het
Tmprss5 T C 9: 49,025,841 (GRCm39) W338R probably benign Het
Tnfrsf19 T C 14: 61,212,147 (GRCm39) T168A possibly damaging Het
Trhde C T 10: 114,636,776 (GRCm39) G144S possibly damaging Het
Trim56 G T 5: 137,143,097 (GRCm39) Q140K probably damaging Het
Ttn C T 2: 76,562,918 (GRCm39) V28679M probably damaging Het
Ubxn8 G A 8: 34,113,231 (GRCm39) R208C probably damaging Het
Vmn2r72 G T 7: 85,387,482 (GRCm39) S694* probably null Het
Wdr38 T A 2: 38,890,276 (GRCm39) W137R probably damaging Het
Zdhhc6 G T 19: 55,292,932 (GRCm39) N271K probably damaging Het
Zfyve9 A G 4: 108,575,744 (GRCm39) S446P possibly damaging Het
Zmynd8 T C 2: 165,649,492 (GRCm39) Q867R possibly damaging Het
Zswim3 T C 2: 164,662,402 (GRCm39) I294T probably benign Het
Other mutations in Best2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCAGGATTAGGTAGGTGTCC -3'
(R):5'- AGAGGACATGCAGTTCCAGC -3'

Sequencing Primer
(F):5'- TCCTCTCCAATAGGGCTGG -3'
(R):5'- ATGCAGTTCCAGCGGCTG -3'
Posted On 2019-06-26