Incidental Mutation 'R1476:Sv2b'
ID 164067
Institutional Source Beutler Lab
Gene Symbol Sv2b
Ensembl Gene ENSMUSG00000053025
Gene Name synaptic vesicle glycoprotein 2b
Synonyms A830038F04Rik
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1476 (G1)
Quality Score 181
Status Validated
Chromosome 7
Chromosomal Location 74764642-74959010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74769791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 584 (F584I)
Ref Sequence ENSEMBL: ENSMUSP00000146049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085164] [ENSMUST00000165175] [ENSMUST00000206344]
AlphaFold Q8BG39
Predicted Effect possibly damaging
Transcript: ENSMUST00000085164
AA Change: F584I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: F584I

DomainStartEndE-ValueType
Pfam:Sugar_tr 93 415 3.8e-29 PFAM
Pfam:MFS_1 111 429 9.3e-25 PFAM
Pfam:MFS_1 517 681 8.2e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165175
AA Change: F584I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: F584I

DomainStartEndE-ValueType
Pfam:Sugar_tr 89 412 1.5e-29 PFAM
Pfam:MFS_1 111 429 9.5e-25 PFAM
Pfam:Pentapeptide_4 453 528 7.9e-11 PFAM
Pfam:MFS_1 516 681 5.9e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000206344
AA Change: F584I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000207001
Meta Mutation Damage Score 0.0996 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation are phenotypically normal, and Sv2a/Sv2b double knockouts are no more affected than Sv2a single knockouts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Casz1 G T 4: 149,030,628 (GRCm39) V1216L probably benign Het
Cdc42bpg A G 19: 6,363,812 (GRCm39) D493G probably damaging Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dock7 A T 4: 98,967,672 (GRCm39) H239Q possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Fntb T A 12: 76,957,007 (GRCm39) M282K probably benign Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Naip1 T C 13: 100,563,378 (GRCm39) S596G probably benign Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm39) D596E possibly damaging Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null Het
Other mutations in Sv2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01463:Sv2b APN 7 74,786,203 (GRCm39) missense probably damaging 1.00
IGL02302:Sv2b APN 7 74,773,947 (GRCm39) missense probably damaging 0.98
IGL02352:Sv2b APN 7 74,786,197 (GRCm39) missense probably benign 0.01
IGL02359:Sv2b APN 7 74,786,197 (GRCm39) missense probably benign 0.01
IGL02698:Sv2b APN 7 74,790,726 (GRCm39) critical splice donor site probably null
IGL02713:Sv2b APN 7 74,773,911 (GRCm39) missense possibly damaging 0.66
IGL03075:Sv2b APN 7 74,786,068 (GRCm39) missense probably benign
IGL03392:Sv2b APN 7 74,806,508 (GRCm39) critical splice acceptor site probably null
R0015:Sv2b UTSW 7 74,775,389 (GRCm39) missense probably damaging 1.00
R0033:Sv2b UTSW 7 74,767,489 (GRCm39) missense probably benign 0.00
R0033:Sv2b UTSW 7 74,767,489 (GRCm39) missense probably benign 0.00
R0219:Sv2b UTSW 7 74,807,015 (GRCm39) critical splice donor site probably null
R0277:Sv2b UTSW 7 74,856,187 (GRCm39) missense possibly damaging 0.62
R0469:Sv2b UTSW 7 74,786,140 (GRCm39) missense probably benign
R0510:Sv2b UTSW 7 74,786,140 (GRCm39) missense probably benign
R1219:Sv2b UTSW 7 74,786,160 (GRCm39) missense probably benign 0.01
R1307:Sv2b UTSW 7 74,856,182 (GRCm39) missense probably damaging 1.00
R1520:Sv2b UTSW 7 74,807,077 (GRCm39) missense probably damaging 0.98
R1575:Sv2b UTSW 7 74,797,425 (GRCm39) missense probably damaging 0.97
R1585:Sv2b UTSW 7 74,797,425 (GRCm39) missense probably damaging 0.97
R1666:Sv2b UTSW 7 74,856,089 (GRCm39) missense probably benign 0.01
R1712:Sv2b UTSW 7 74,798,807 (GRCm39) missense possibly damaging 0.78
R1864:Sv2b UTSW 7 74,773,828 (GRCm39) missense probably benign 0.17
R1993:Sv2b UTSW 7 74,856,089 (GRCm39) missense probably benign 0.01
R2191:Sv2b UTSW 7 74,773,836 (GRCm39) missense probably damaging 1.00
R3836:Sv2b UTSW 7 74,807,176 (GRCm39) missense probably damaging 1.00
R4744:Sv2b UTSW 7 74,856,266 (GRCm39) missense probably benign 0.01
R4757:Sv2b UTSW 7 74,773,918 (GRCm39) missense probably benign 0.31
R4924:Sv2b UTSW 7 74,786,169 (GRCm39) missense probably benign 0.20
R4990:Sv2b UTSW 7 74,767,470 (GRCm39) missense possibly damaging 0.55
R4991:Sv2b UTSW 7 74,767,470 (GRCm39) missense possibly damaging 0.55
R5038:Sv2b UTSW 7 74,807,173 (GRCm39) missense probably damaging 1.00
R5726:Sv2b UTSW 7 74,773,962 (GRCm39) missense possibly damaging 0.67
R5885:Sv2b UTSW 7 74,806,501 (GRCm39) missense probably damaging 1.00
R6379:Sv2b UTSW 7 74,786,048 (GRCm39) missense possibly damaging 0.73
R6410:Sv2b UTSW 7 74,789,857 (GRCm39) missense probably benign 0.40
R6623:Sv2b UTSW 7 74,856,132 (GRCm39) missense probably damaging 1.00
R6709:Sv2b UTSW 7 74,773,887 (GRCm39) missense probably benign 0.40
R6873:Sv2b UTSW 7 74,855,954 (GRCm39) missense probably damaging 1.00
R6889:Sv2b UTSW 7 74,775,515 (GRCm39) splice site probably null
R7123:Sv2b UTSW 7 74,767,450 (GRCm39) missense possibly damaging 0.94
R7278:Sv2b UTSW 7 74,797,402 (GRCm39) missense probably damaging 0.99
R7363:Sv2b UTSW 7 74,797,402 (GRCm39) missense probably damaging 0.99
R7378:Sv2b UTSW 7 74,797,476 (GRCm39) critical splice acceptor site probably null
R7426:Sv2b UTSW 7 74,773,812 (GRCm39) missense probably damaging 1.00
R7452:Sv2b UTSW 7 74,797,461 (GRCm39) missense probably damaging 1.00
R7504:Sv2b UTSW 7 74,786,131 (GRCm39) missense probably benign 0.14
R8425:Sv2b UTSW 7 74,767,347 (GRCm39) missense probably damaging 1.00
R8490:Sv2b UTSW 7 74,855,833 (GRCm39) splice site probably null
R8752:Sv2b UTSW 7 74,855,842 (GRCm39) missense possibly damaging 0.85
R8905:Sv2b UTSW 7 74,767,459 (GRCm39) missense probably benign 0.00
R9058:Sv2b UTSW 7 74,789,822 (GRCm39) critical splice donor site probably null
R9075:Sv2b UTSW 7 74,789,845 (GRCm39) missense possibly damaging 0.93
R9114:Sv2b UTSW 7 74,856,017 (GRCm39) missense probably damaging 1.00
R9417:Sv2b UTSW 7 74,769,772 (GRCm39) missense probably damaging 0.99
R9568:Sv2b UTSW 7 74,775,428 (GRCm39) missense probably benign 0.12
R9596:Sv2b UTSW 7 74,767,462 (GRCm39) missense probably damaging 1.00
R9704:Sv2b UTSW 7 74,797,420 (GRCm39) missense possibly damaging 0.48
R9711:Sv2b UTSW 7 74,856,238 (GRCm39) missense probably benign 0.01
R9717:Sv2b UTSW 7 74,769,676 (GRCm39) missense probably benign 0.19
R9731:Sv2b UTSW 7 74,786,068 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCACTGAGACAGCTTACGTTTGTCC -3'
(R):5'- CTTCACCTGAGCCTGTGAGATTGG -3'

Sequencing Primer
(F):5'- GACCACTGACATCATCTTGGAGAG -3'
(R):5'- ATTGGGGGTGTGGGCAAATC -3'
Posted On 2014-03-28