Incidental Mutation 'R0033:Sv2b'
ID 201267
Institutional Source Beutler Lab
Gene Symbol Sv2b
Ensembl Gene ENSMUSG00000053025
Gene Name synaptic vesicle glycoprotein 2b
Synonyms A830038F04Rik
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0033 (G1)
Quality Score 38
Status Validated
Chromosome 7
Chromosomal Location 74764642-74959010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74767489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 636 (F636L)
Ref Sequence ENSEMBL: ENSMUSP00000146049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085164] [ENSMUST00000165175] [ENSMUST00000206344]
AlphaFold Q8BG39
Predicted Effect probably benign
Transcript: ENSMUST00000085164
AA Change: F636L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: F636L

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 benign
Transcript: ENSMUST00000165175
AA Change: F636L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: F636L

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 benign
Transcript: ENSMUST00000206344
AA Change: F636L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000207001
Meta Mutation Damage Score 0.0593 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 100% (81/81)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,115,794 (GRCm39) F110L probably damaging Het
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Ankib1 A C 5: 3,819,588 (GRCm39) D110E possibly damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
Cacna1d T A 14: 29,827,446 (GRCm39) Q993L probably damaging Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Emilin2 G T 17: 71,582,009 (GRCm39) T239K probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Fbxl4 T C 4: 22,377,017 (GRCm39) V151A probably damaging Het
Fer1l4 G A 2: 155,866,026 (GRCm39) probably benign Het
Gm43302 T C 5: 105,424,710 (GRCm39) D310G probably benign Het
Gstk1 A G 6: 42,223,737 (GRCm39) probably benign Het
Hapln1 A T 13: 89,749,932 (GRCm39) Q159L probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kdm7a A T 6: 39,142,131 (GRCm39) Y382* probably null Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Klc4 A T 17: 46,946,359 (GRCm39) C489S probably damaging Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Macc1 T A 12: 119,410,076 (GRCm39) N281K probably benign Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Myoc G A 1: 162,476,010 (GRCm39) G238E probably damaging Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Obscn A G 11: 58,885,572 (GRCm39) probably benign Het
Oplah T A 15: 76,181,334 (GRCm39) Q1202L probably benign Het
Or5p62 G T 7: 107,771,134 (GRCm39) D272E probably benign Het
Or9s23 A G 1: 92,500,982 (GRCm39) T30A probably benign Het
Ppargc1b G A 18: 61,440,765 (GRCm39) R718W probably damaging Het
Pramel19 A T 4: 101,798,881 (GRCm39) Y284F probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rnf225 T C 7: 12,662,085 (GRCm39) L88P probably damaging Het
Slc12a1 A G 2: 125,055,929 (GRCm39) D820G probably benign Het
Slc12a4 G T 8: 106,674,111 (GRCm39) probably benign Het
Slx4 C T 16: 3,805,864 (GRCm39) A72T probably benign Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Tdp1 C T 12: 99,901,311 (GRCm39) T531I probably benign Het
Thra G A 11: 98,655,178 (GRCm39) V353I probably benign Het
Tm7sf2 A G 19: 6,116,452 (GRCm39) probably benign Het
Tmx4 A T 2: 134,442,918 (GRCm39) probably null Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Trav6n-5 T A 14: 53,342,368 (GRCm39) M14K probably benign Het
Ttn T A 2: 76,572,624 (GRCm39) I26090F probably damaging Het
Tut1 G T 19: 8,940,123 (GRCm39) R369L probably benign Het
Uba5 T A 9: 103,931,347 (GRCm39) T241S probably benign Het
Unc13d T C 11: 115,959,991 (GRCm39) T597A probably benign Het
Vmn1r58 A T 7: 5,413,387 (GRCm39) I281K probably damaging Het
Vmn1r59 A G 7: 5,457,433 (GRCm39) V109A probably benign Het
Xdh T A 17: 74,214,627 (GRCm39) M773L probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly 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
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'- GTTGGTCACATCAGGACTTGCTCTC -3'
(R):5'- ACGGTCCATCTCTGTTGCAGGAAG -3'

Sequencing Primer
(F):5'- TCGAGTCTCTGGCAATCGAAG -3'
(R):5'- acacagccagcagcaag -3'
Posted On 2014-05-27