Incidental Mutation 'R7008:Best2'
ID 544835
Institutional Source Beutler Lab
Gene Symbol Best2
Ensembl Gene ENSMUSG00000052819
Gene Name bestrophin 2
Synonyms Vmd2l1
MMRRC Submission 045110-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R7008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 85733831-85741160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85739840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 76 (I76F)
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 possibly damaging
Transcript: ENSMUST00000059072
AA Change: I76F

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: I76F

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: ENSMUST00000064314
SMART Domains Protein: ENSMUSP00000065337
Gene: ENSMUSG00000052456

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000209322
AA Change: I76F

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209421
AA Change: I76F

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
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
Ankrd17 T A 5: 90,407,955 (GRCm39) I1421F possibly damaging Het
Arhgef11 C A 3: 87,636,525 (GRCm39) T992K possibly damaging Het
Arid1b T C 17: 5,341,254 (GRCm39) Y853H probably damaging Het
Bcl10 G T 3: 145,639,054 (GRCm39) R232L probably benign Het
Card11 G C 5: 140,859,148 (GRCm39) R1133G probably damaging Het
Card9 T C 2: 26,247,811 (GRCm39) D180G possibly damaging Het
Ccdc162 T A 10: 41,428,411 (GRCm39) E119V probably damaging Het
Ccdc168 T C 1: 44,098,785 (GRCm39) D771G probably benign Het
Cd2bp2 T C 7: 126,794,567 (GRCm39) D15G possibly damaging Het
Cdk7 A C 13: 100,854,129 (GRCm39) M120R probably damaging Het
Cryba4 T A 5: 112,399,648 (GRCm39) T2S probably benign Het
Cyp19a1 A T 9: 54,100,609 (GRCm39) M26K probably benign Het
Dgcr2 A G 16: 17,662,865 (GRCm39) S157P probably damaging Het
Dis3l A G 9: 64,217,735 (GRCm39) F782S possibly damaging Het
Ephb4 T A 5: 137,359,536 (GRCm39) S369T probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
H1f4 T C 13: 23,806,192 (GRCm39) K97E probably damaging Het
Igf2bp2 A T 16: 21,900,582 (GRCm39) D118E probably benign Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Klhl5 T C 5: 65,300,592 (GRCm39) S52P probably benign Het
Lrrc28 A T 7: 67,245,459 (GRCm39) probably benign Het
Map4k4 T G 1: 40,028,131 (GRCm39) D317E probably benign Het
Maz A T 7: 126,623,784 (GRCm39) C66S probably damaging Het
Mbd4 T C 6: 115,827,685 (GRCm39) T43A possibly damaging Het
Milr1 T A 11: 106,642,140 (GRCm39) S11T probably damaging Het
Mthfd2l T A 5: 91,107,587 (GRCm39) C150S probably damaging Het
Nemf A T 12: 69,388,395 (GRCm39) N325K possibly damaging Het
Nemf C T 12: 69,400,567 (GRCm39) probably null Het
Nod2 T A 8: 89,390,285 (GRCm39) C197* probably null Het
Odf2l A G 3: 144,838,495 (GRCm39) K241E probably damaging Het
Or4z4 G A 19: 12,076,214 (GRCm39) T263I possibly damaging Het
Or5b124 A T 19: 13,610,985 (GRCm39) N170I probably damaging Het
Osbpl10 T G 9: 114,890,916 (GRCm39) D101E probably damaging Het
Osgin1 T C 8: 120,168,233 (GRCm39) V20A possibly damaging Het
Pan3 T A 5: 147,482,503 (GRCm39) C438S probably damaging Het
Plaa A G 4: 94,457,586 (GRCm39) *795Q probably null Het
Prss35 T C 9: 86,638,361 (GRCm39) V377A probably benign Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasl12 G A 9: 65,318,151 (GRCm39) V172M probably damaging Het
Rdh16f1 A G 10: 127,626,775 (GRCm39) H276R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sez6l T C 5: 112,612,561 (GRCm39) Y460C probably damaging Het
Sipa1l1 T G 12: 82,409,886 (GRCm39) M600R probably damaging Het
Slc11a2 T C 15: 100,307,205 (GRCm39) Y92C probably damaging Het
Slc4a10 A G 2: 62,117,266 (GRCm39) T712A probably benign Het
Sntb1 A T 15: 55,655,468 (GRCm39) Y249* probably null Het
Spatc1 A G 15: 76,167,923 (GRCm39) I127M probably benign Het
Sting1 C A 18: 35,868,224 (GRCm39) R292L probably damaging Het
Synj1 A T 16: 90,790,833 (GRCm39) N109K probably damaging Het
Tdg T A 10: 82,484,475 (GRCm39) M396K possibly damaging Het
Tmem252 T C 19: 24,651,656 (GRCm39) V75A probably damaging Het
Trim40 T C 17: 37,194,868 (GRCm39) Q142R probably damaging Het
Trip6 T C 5: 137,311,228 (GRCm39) T163A probably damaging Het
Ttn T C 2: 76,724,986 (GRCm39) probably benign Het
Wdr95 T C 5: 149,535,005 (GRCm39) L721P probably benign Het
Zfp385c A T 11: 100,521,513 (GRCm39) D182E probably damaging Het
Zfp597 A G 16: 3,683,631 (GRCm39) F375S probably benign Het
Zfp658 T G 7: 43,223,336 (GRCm39) F537C possibly damaging Het
Zgrf1 T C 3: 127,355,421 (GRCm39) F216L 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
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'- TATCGGTGAGAAGACCTGGAGTTG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- AAGACCTGGAGTTGGGGCTG -3'
Posted On 2019-05-13