Incidental Mutation 'R0015:Sv2b'
ID 64897
Institutional Source Beutler Lab
Gene Symbol Sv2b
Ensembl Gene ENSMUSG00000053025
Gene Name synaptic vesicle glycoprotein 2b
Synonyms A830038F04Rik
MMRRC Submission 038310-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0015 (G1)
Quality Score 206
Status Validated
Chromosome 7
Chromosomal Location 74764642-74959010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74775389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 479 (F479L)
Ref Sequence ENSEMBL: ENSMUSP00000146049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085164] [ENSMUST00000165175] [ENSMUST00000206344]
AlphaFold Q8BG39
Predicted Effect probably damaging
Transcript: ENSMUST00000085164
AA Change: F479L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: F479L

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 probably damaging
Transcript: ENSMUST00000165175
AA Change: F479L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: F479L

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 probably damaging
Transcript: ENSMUST00000206344
AA Change: F479L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207001
Meta Mutation Damage Score 0.3402 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 97% (71/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130050O07Rik A G 1: 137,856,394 (GRCm39) Y23C unknown Het
Adcy3 G A 12: 4,245,260 (GRCm39) probably null Het
Aldh6a1 G A 12: 84,488,554 (GRCm39) L86F probably damaging Het
Arl10 G T 13: 54,723,770 (GRCm39) probably benign Het
Armc3 A G 2: 19,301,132 (GRCm39) probably null Het
Astn2 T G 4: 66,184,619 (GRCm39) probably null Het
Cacna1d G A 14: 29,836,928 (GRCm39) T804I probably benign Het
Ccny A C 18: 9,316,682 (GRCm39) probably benign Het
Cdh5 C T 8: 104,867,559 (GRCm39) T612I probably benign Het
Cfap58 A G 19: 48,017,539 (GRCm39) M800V probably benign Het
Clrn1 A T 3: 58,753,848 (GRCm39) I171K probably damaging Het
Cnp T A 11: 100,469,734 (GRCm39) probably null Het
Col12a1 T C 9: 79,558,667 (GRCm39) T1933A probably damaging Het
Cplane1 G A 15: 8,215,668 (GRCm39) R408H probably damaging Het
Cwf19l2 A G 9: 3,454,666 (GRCm39) S660G probably benign Het
Dync1i2 C A 2: 71,044,828 (GRCm39) R13S probably damaging Het
Eps8l1 A T 7: 4,480,556 (GRCm39) probably benign Het
Espn T C 4: 152,223,609 (GRCm39) T188A possibly damaging Het
F2 T C 2: 91,460,952 (GRCm39) E260G probably benign Het
Fat4 T A 3: 39,036,652 (GRCm39) S3435T probably damaging Het
Fchsd1 A G 18: 38,096,012 (GRCm39) C533R probably benign Het
Fstl5 G A 3: 76,229,498 (GRCm39) V100M probably damaging Het
Gls2 T G 10: 128,045,219 (GRCm39) L572R probably damaging Het
Gm20939 A T 17: 95,184,196 (GRCm39) E281D probably benign Het
Gpr35 T G 1: 92,910,954 (GRCm39) L222W probably damaging Het
Hsf5 C A 11: 87,548,161 (GRCm39) H615N probably benign Het
Id2 C T 12: 25,145,802 (GRCm39) D70N probably damaging Het
Ints2 T C 11: 86,140,113 (GRCm39) T240A probably damaging Het
Kcnn3 A C 3: 89,570,080 (GRCm39) D631A probably damaging Het
Klhdc8a A G 1: 132,230,743 (GRCm39) T203A probably damaging Het
Lama4 C T 10: 38,951,432 (GRCm39) T1059M possibly damaging Het
Lgals8 A G 13: 12,462,179 (GRCm39) L226P probably damaging Het
Lifr T A 15: 7,217,667 (GRCm39) probably null Het
Lonp1 T A 17: 56,925,406 (GRCm39) Q462L probably benign Het
Lypd1 A G 1: 125,838,175 (GRCm39) V48A possibly damaging Het
Mapkapk2 A G 1: 131,025,063 (GRCm39) I67T possibly damaging Het
Mbd3l1 A T 9: 18,396,154 (GRCm39) D93V probably benign Het
Mdh1b T C 1: 63,760,959 (GRCm39) probably benign Het
Myh7b C T 2: 155,464,206 (GRCm39) P569L probably damaging Het
Ncapd3 C A 9: 26,963,105 (GRCm39) A470E probably damaging Het
Ndrg2 A G 14: 52,147,902 (GRCm39) probably benign Het
Nprl2 A T 9: 107,421,618 (GRCm39) I209F probably damaging Het
Ntrk1 A G 3: 87,699,057 (GRCm39) probably benign Het
Olfm2 T C 9: 20,580,037 (GRCm39) E268G probably damaging Het
Or8b37 T A 9: 37,958,963 (GRCm39) Y148* probably null Het
Pcf11 T A 7: 92,307,525 (GRCm39) H881L probably benign Het
Pde10a A G 17: 9,196,029 (GRCm39) D640G probably damaging Het
Pde9a G A 17: 31,605,330 (GRCm39) probably null Het
Pianp G T 6: 124,978,503 (GRCm39) G236V probably damaging Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Ppp1r3a A G 6: 14,717,660 (GRCm39) S1085P possibly damaging Het
Pter G A 2: 13,005,811 (GRCm39) G328D probably damaging Het
Rad51 T A 2: 118,946,808 (GRCm39) M5K probably benign Het
Rbm43 T A 2: 51,815,679 (GRCm39) I181F probably benign Het
Rgs12 T C 5: 35,180,120 (GRCm39) probably benign Het
Rnf213 A C 11: 119,332,432 (GRCm39) D2547A possibly damaging Het
Slc20a2 C A 8: 23,025,361 (GRCm39) A21E probably damaging Het
Stab2 A G 10: 86,679,481 (GRCm39) S2503P probably benign Het
Sybu T C 15: 44,536,896 (GRCm39) R349G probably damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tnrc6c T A 11: 117,612,284 (GRCm39) N307K probably damaging Het
Ubxn11 C G 4: 133,843,336 (GRCm39) probably null Het
Ust T C 10: 8,205,829 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,620,823 (GRCm39) N852K probably benign Het
Zgrf1 T C 3: 127,349,046 (GRCm39) probably benign 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
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
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'- AGGAATCCCTTCACTCCTGCTTCAG -3'
(R):5'- TCTATAGCCCCAGAGCCTATTGCC -3'

Sequencing Primer
(F):5'- TCAGCTCTGCCTCTCGG -3'
(R):5'- GAGCCTATTGCCAGCAACTG -3'
Posted On 2013-08-06