Incidental Mutation 'R8864:Best2'
ID 675813
Institutional Source Beutler Lab
Gene Symbol Best2
Ensembl Gene ENSMUSG00000052819
Gene Name bestrophin 2
Synonyms Vmd2l1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 85007202-85014531 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85009313 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 331 (M331L)
Ref Sequence ENSEMBL: ENSMUSP00000053408 (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: M331L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: M331L

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: ENSMUST00000209322
AA Change: M331L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209421
AA Change: M331L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,890,425 C297* probably null Het
Adamts3 T C 5: 89,707,122 probably benign Het
Cachd1 T A 4: 100,994,829 S1207R probably damaging Het
Cacna2d3 G T 14: 29,333,778 N298K probably damaging Het
Cyp2j12 T C 4: 96,121,513 Y203C probably damaging Het
Dnah8 T C 17: 30,762,642 I3046T possibly damaging Het
Eif3b T C 5: 140,426,532 V252A probably benign Het
Ergic2 A G 6: 148,181,895 V355A probably benign Het
F13a1 C T 13: 36,877,779 G670D probably damaging Het
Gfpt1 T A 6: 87,054,623 D82E probably benign Het
Ggnbp2 G A 11: 84,840,076 R376C probably damaging Het
Gm30302 T C 13: 49,787,512 N241D probably benign Het
Grn T C 11: 102,436,385 F191L unknown Het
Ighv1-16 C T 12: 114,665,999 G56D probably benign Het
Jrkl T C 9: 13,244,321 D445G probably benign Het
Loxl3 A G 6: 83,035,758 T93A probably damaging Het
Lrp1b C T 2: 41,112,706 A2094T Het
Lrriq3 T A 3: 155,187,938 D425E probably damaging Het
Majin T C 19: 6,211,620 V55A possibly damaging Het
Mapk8ip3 A T 17: 24,899,518 V1192E probably damaging Het
Mdga1 T C 17: 29,931,321 S106G unknown Het
Mtch2 C T 2: 90,854,930 R135* probably null Het
Naip1 T C 13: 100,426,320 N779S possibly damaging Het
Nfia T C 4: 98,063,145 V403A possibly damaging Het
Npas4 C A 19: 4,988,528 D121Y probably damaging Het
Rab3gap1 C T 1: 127,909,893 R231W probably damaging Het
Rangap1 C G 15: 81,726,069 probably benign Het
Rgs5 T A 1: 169,690,421 F75I probably benign Het
Rnf19a T C 15: 36,265,306 D215G possibly damaging Het
Rwdd4a A T 8: 47,547,841 probably benign Het
Setd5 G A 6: 113,111,508 R199H probably damaging Het
Spef2 T C 15: 9,599,747 Q2004R unknown Het
Syne1 T C 10: 5,420,473 K236E probably benign Het
Tas2r104 A G 6: 131,685,669 F26L possibly damaging Het
Tbc1d32 T A 10: 56,087,559 E954D probably benign Het
Tenm2 A C 11: 36,027,195 S1914A possibly damaging Het
Tln2 G T 9: 67,330,552 Y32* probably null Het
Tnc C T 4: 63,993,059 R1425H probably damaging Het
Unc13b T C 4: 43,174,724 C1851R unknown Het
Wapl T A 14: 34,692,202 D340E probably benign Het
Zfp74 T C 7: 29,934,810 E491G probably damaging Het
Other mutations in Best2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01398:Best2 APN 8 85009327 missense probably damaging 0.99
R1165:Best2 UTSW 8 85011160 missense probably benign 0.06
R1446:Best2 UTSW 8 85007964 missense probably benign 0.01
R1715:Best2 UTSW 8 85011223 missense probably benign 0.41
R1928:Best2 UTSW 8 85011253 missense probably benign 0.13
R1944:Best2 UTSW 8 85010761 critical splice donor site probably null
R1951:Best2 UTSW 8 85011229 missense possibly damaging 0.46
R2006:Best2 UTSW 8 85013189 critical splice donor site probably null
R3691:Best2 UTSW 8 85011254 missense probably benign 0.01
R3918:Best2 UTSW 8 85009724 missense probably damaging 1.00
R4693:Best2 UTSW 8 85011203 missense probably damaging 0.99
R6149:Best2 UTSW 8 85013267 missense probably benign 0.00
R6696:Best2 UTSW 8 85011244 nonsense probably null
R6857:Best2 UTSW 8 85007823 missense probably benign 0.06
R6983:Best2 UTSW 8 85009776 missense probably benign 0.01
R7008:Best2 UTSW 8 85013211 missense possibly damaging 0.88
R7266:Best2 UTSW 8 85007764 missense probably benign
R7417:Best2 UTSW 8 85009666 splice site probably null
R7782:Best2 UTSW 8 85009514 missense probably damaging 1.00
R8015:Best2 UTSW 8 85009354 missense probably damaging 0.96
R9072:Best2 UTSW 8 85010789 missense probably damaging 1.00
R9515:Best2 UTSW 8 85013518 missense
R9614:Best2 UTSW 8 85013422 missense
Predicted Primers PCR Primer
(F):5'- CGTAGACCCTTCTAAGCCTG -3'
(R):5'- GACGACGACTTTGAGACCAAC -3'

Sequencing Primer
(F):5'- GTAGACCCTTCTAAGCCTGCAGAG -3'
(R):5'- TATTGACCGCAACTTCCAGGTCAG -3'
Posted On 2021-07-15