Incidental Mutation 'R8109:Bst2'
ID 643869
Institutional Source Beutler Lab
Gene Symbol Bst2
Ensembl Gene ENSMUSG00000046718
Gene Name bone marrow stromal cell antigen 2
Synonyms C87040, GREG, Bst-2, 2310015I10Rik
MMRRC Submission 067538-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R8109 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71986899-71990100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71989990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 28 (W28R)
Ref Sequence ENSEMBL: ENSMUSP00000051921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051672]
AlphaFold Q8R2Q8
PDB Structure Crystal Structure of Mouse BST-2/Tetherin Ectodomain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000051672
AA Change: W28R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051921
Gene: ENSMUSG00000046718
AA Change: W28R

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Pfam:BST2 54 144 1.9e-37 PFAM
low complexity region 148 171 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (47/48)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to the LP-BM5 strain of Mo-MLV (murine AIDS). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,767,284 (GRCm39) V130A probably benign Het
Acte1 C T 7: 143,451,203 (GRCm39) probably null Het
Adamts12 A C 15: 11,331,877 (GRCm39) K1465T probably benign Het
Adamtsl1 T C 4: 86,166,306 (GRCm39) V223A Het
Adamtsl3 T A 7: 82,251,487 (GRCm39) I1494N possibly damaging Het
Ank3 T C 10: 69,826,148 (GRCm39) Y1606H Het
Arhgap32 A G 9: 32,093,150 (GRCm39) I168V probably benign Het
Atxn7l2 G A 3: 108,110,617 (GRCm39) R675C probably damaging Het
Brcc3dc A G 10: 108,535,520 (GRCm39) M145T probably damaging Het
Cadps T A 14: 12,488,975 (GRCm38) T861S probably benign Het
Ceacam11 A G 7: 17,709,243 (GRCm39) Y147C probably benign Het
Clasp2 T A 9: 113,740,588 (GRCm39) N1187K probably damaging Het
Dcaf7 T C 11: 105,937,604 (GRCm39) W76R probably damaging Het
Ephb1 G A 9: 101,918,222 (GRCm39) T429I probably damaging Het
Flg A T 3: 93,197,734 (GRCm39) Q21L unknown Het
Flrt2 T C 12: 95,747,333 (GRCm39) V557A probably benign Het
Gdpgp1 T C 7: 79,888,581 (GRCm39) V204A probably damaging Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Jph2 T C 2: 163,181,206 (GRCm39) K653E probably benign Het
Kmt2c T C 5: 25,486,382 (GRCm39) S4724G probably damaging Het
Llgl2 T C 11: 115,741,619 (GRCm39) V583A possibly damaging Het
Met T C 6: 17,562,236 (GRCm39) V1199A probably damaging Het
Mmp25 A G 17: 23,863,768 (GRCm39) W21R probably benign Het
Nsun4 A T 4: 115,909,040 (GRCm39) C507S probably benign Het
Or1j19 T A 2: 36,676,618 (GRCm39) M27K probably benign Het
Pard6g T C 18: 80,160,658 (GRCm39) V257A possibly damaging Het
Pcdh1 A G 18: 38,332,049 (GRCm39) V457A probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Plpp6 T A 19: 28,941,891 (GRCm39) M164K possibly damaging Het
Rhobtb2 C A 14: 70,038,080 (GRCm39) R60L probably damaging Het
Rsph10b A C 5: 143,922,348 (GRCm39) I845L probably benign Het
Sdf4 C T 4: 156,094,295 (GRCm39) A325V probably damaging Het
Slc4a3 A G 1: 75,528,448 (GRCm39) D481G possibly damaging Het
Smo A G 6: 29,755,522 (GRCm39) Y398C probably damaging Het
Sox18 A G 2: 181,313,293 (GRCm39) Y8H possibly damaging Het
Sycp1 A T 3: 102,758,918 (GRCm39) S780T probably benign Het
Tdg T A 10: 82,480,353 (GRCm39) V239E probably damaging Het
Tenm2 T C 11: 35,899,137 (GRCm39) T2675A probably benign Het
Thrap3 C A 4: 126,080,273 (GRCm39) R31L unknown Het
Tinagl1 T A 4: 130,063,123 (GRCm39) I149F probably damaging Het
Tnc A G 4: 63,927,000 (GRCm39) V842A probably benign Het
Tpm3-rs7 A G 14: 113,552,772 (GRCm39) D222G probably benign Het
Ube4a T C 9: 44,846,781 (GRCm39) I773V probably benign Het
Vmn1r229 T C 17: 21,035,268 (GRCm39) V171A probably benign Het
Zc3hav1 T C 6: 38,306,114 (GRCm39) E646G probably damaging Het
Zfp341 A T 2: 154,469,820 (GRCm39) M168L probably benign Het
Zfp874a A C 13: 67,597,563 (GRCm39) D13E possibly damaging Het
Other mutations in Bst2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Bst2 APN 8 71,989,830 (GRCm39) missense probably damaging 0.97
R0158:Bst2 UTSW 8 71,989,861 (GRCm39) missense possibly damaging 0.95
R6383:Bst2 UTSW 8 71,989,932 (GRCm39) missense possibly damaging 0.95
R6868:Bst2 UTSW 8 71,987,404 (GRCm39) missense unknown
R7109:Bst2 UTSW 8 71,989,926 (GRCm39) missense possibly damaging 0.93
R7322:Bst2 UTSW 8 71,989,851 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGGTTGCAGGAGTTTGCC -3'
(R):5'- AATTGCGTTGGACTCCTGAAG -3'

Sequencing Primer
(F):5'- TGCAGCAGACTGTCCTGG -3'
(R):5'- CCTGAAGTTGCTATTTGCTAGAAGC -3'
Posted On 2020-09-02