Incidental Mutation 'R4990:Sv2b'
ID 386124
Institutional Source Beutler Lab
Gene Symbol Sv2b
Ensembl Gene ENSMUSG00000053025
Gene Name synaptic vesicle glycoprotein 2b
Synonyms A830038F04Rik
MMRRC Submission 042584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4990 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 74764642-74959010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74767470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 642 (N642S)
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: N642S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: N642S

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: N642S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: N642S

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: N642S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000207001
Meta Mutation Damage Score 0.0930 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,334,098 (GRCm39) I1135V possibly damaging Het
Abca14 G A 7: 119,911,388 (GRCm39) R1324K probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Aplnr G A 2: 84,967,721 (GRCm39) V249M probably damaging Het
Atg16l1 A G 1: 87,717,091 (GRCm39) K471R probably benign Het
Cacna1b A G 2: 24,568,886 (GRCm39) probably null Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Ccdc152 A G 15: 3,330,639 (GRCm39) I12T probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Cenpe T A 3: 134,962,401 (GRCm39) L1989Q probably damaging Het
Cep295 T C 9: 15,243,434 (GRCm39) Q1674R probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dock2 T C 11: 34,586,078 (GRCm39) M535V probably damaging Het
Dscam A G 16: 96,626,715 (GRCm39) V398A probably benign Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Fbxw18 T C 9: 109,517,461 (GRCm39) E414G probably damaging Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hnrnpr G A 4: 136,063,609 (GRCm39) V239I probably damaging Het
Hnrnpr A G 4: 136,056,690 (GRCm39) E230G probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Kcnh7 T C 2: 62,564,632 (GRCm39) N876D probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lrp2 G T 2: 69,311,732 (GRCm39) T2582K probably benign Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Megf6 A G 4: 154,351,683 (GRCm39) E1132G possibly damaging Het
Mesp1 A G 7: 79,442,669 (GRCm39) Y203H probably damaging Het
Ms4a4a T C 19: 11,356,201 (GRCm39) S29P probably benign Het
Nbeal2 A C 9: 110,463,871 (GRCm39) C1174G probably benign Het
Neb C T 2: 52,145,558 (GRCm39) V2989I probably benign Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Nt5e A G 9: 88,237,646 (GRCm39) N192S probably benign Het
Ntng1 A T 3: 110,042,577 (GRCm39) probably null Het
Or13a17 G A 7: 140,271,360 (GRCm39) E181K probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Or4c110 A T 2: 88,831,816 (GRCm39) I272K probably damaging Het
Or4c15b A T 2: 89,113,671 (GRCm39) probably null Het
Panx1 A G 9: 14,921,513 (GRCm39) Y121H probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pgm3 T A 9: 86,440,465 (GRCm39) I409F probably damaging Het
Plg T C 17: 12,630,397 (GRCm39) Y645H probably benign Het
Pon3 T C 6: 5,221,619 (GRCm39) H337R probably benign Het
Rasa2 A G 9: 96,474,042 (GRCm39) I162T probably benign Het
Ror1 A G 4: 100,299,161 (GRCm39) I845V probably benign Het
Rpl4 T C 9: 64,082,167 (GRCm39) V22A probably benign Het
Ryr3 T C 2: 112,740,318 (GRCm39) N531S probably damaging Het
Ryr3 G T 2: 112,466,122 (GRCm39) Q4746K probably damaging Het
Sbno1 A T 5: 124,538,228 (GRCm39) F571I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sec22b T G 3: 97,828,427 (GRCm39) probably null Het
Slc45a2 A G 15: 11,001,236 (GRCm39) M112V probably benign Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Speer1e A T 5: 11,236,381 (GRCm39) E138V probably damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Trappc11 A T 8: 47,943,930 (GRCm39) D1127E probably benign Het
Triobp C A 15: 78,851,205 (GRCm39) A453D probably benign Het
Tubd1 T C 11: 86,448,665 (GRCm39) L295P probably damaging Het
Ulk4 C T 9: 121,021,852 (GRCm39) V620I probably benign Het
Vmn2r39 A G 7: 9,026,675 (GRCm39) I442T probably benign Het
Wwc1 T C 11: 35,767,393 (GRCm39) T413A probably benign Het
Zfp131 A C 13: 120,244,449 (GRCm39) V77G probably damaging Het
Zfyve26 T C 12: 79,334,607 (GRCm39) D137G probably damaging 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
R1476:Sv2b UTSW 7 74,769,791 (GRCm39) missense possibly damaging 0.72
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
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'- TCCTGTAGACAGTGAGAGGCAG -3'
(R):5'- GTGTTGGCTAAAATGAAATCGCTG -3'

Sequencing Primer
(F):5'- CTGTGCTGGAGTGTCCTGAAAAAG -3'
(R):5'- AGCGAAGCCCAGAATTTC -3'
Posted On 2016-05-10