Incidental Mutation 'IGL02302:Sv2b'
ID287439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sv2b
Ensembl Gene ENSMUSG00000053025
Gene Namesynaptic vesicle glycoprotein 2 b
SynonymsA830038F04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02302
Quality Score
Status
Chromosome7
Chromosomal Location75114894-75309262 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 75124199 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 508 (K508M)
Ref Sequence ENSEMBL: ENSMUSP00000146049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085164] [ENSMUST00000165175] [ENSMUST00000206344]
Predicted Effect probably damaging
Transcript: ENSMUST00000085164
AA Change: K508M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: K508M

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: K508M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: K508M

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: K508M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000207001
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,383,098 Q211L possibly damaging Het
2210016F16Rik G A 13: 58,381,935 R288W probably damaging Het
Abca14 T A 7: 120,318,745 probably benign Het
Abcb10 A T 8: 123,958,672 V543D possibly damaging Het
Ankrd17 G A 5: 90,283,198 T909I probably benign Het
Arhgef3 A G 14: 27,362,842 N76S probably benign Het
Bbx A T 16: 50,224,915 C320S probably damaging Het
Cdh23 C A 10: 60,323,523 V2159F possibly damaging Het
Cmtr2 G A 8: 110,221,504 A149T probably damaging Het
Cntnap4 A G 8: 112,785,903 probably benign Het
Col6a3 A T 1: 90,781,760 F1905I unknown Het
Ddx60 A G 8: 61,975,832 Y792C possibly damaging Het
Dock4 T C 12: 40,725,777 L573P probably damaging Het
Dopey2 A G 16: 93,810,117 I2103V probably benign Het
Ear1 T G 14: 43,819,047 Q121H probably benign Het
Eprs T A 1: 185,387,124 probably benign Het
Ero1l T C 14: 45,293,162 K271R probably benign Het
Esyt1 A G 10: 128,512,367 L884P probably damaging Het
F2r T C 13: 95,604,652 N125S probably damaging Het
Fam129b A G 2: 32,921,123 I382V probably benign Het
Fam217a T C 13: 34,911,161 E357G probably damaging Het
Gabbr1 C T 17: 37,054,797 R123W probably damaging Het
Gatsl2 G A 5: 134,135,643 V148I possibly damaging Het
Gimap4 T G 6: 48,690,413 V34G probably damaging Het
Gm3248 A T 14: 5,943,011 V180E probably benign Het
Hecw2 A T 1: 53,933,248 N204K probably damaging Het
Ighv1-84 T A 12: 115,980,929 K42* probably null Het
Kcnh7 T A 2: 62,706,058 Q1060L probably damaging Het
Kif3b T A 2: 153,316,948 I223N probably damaging Het
Lama2 G A 10: 27,212,043 P913S probably benign Het
Lgr4 A G 2: 110,002,496 I334M probably damaging Het
Lrrc45 G T 11: 120,718,525 E403D possibly damaging Het
Mccc2 A G 13: 99,954,239 L462P probably damaging Het
Mfsd13b T C 7: 120,998,909 V346A probably damaging Het
Muc6 T C 7: 141,641,496 T1342A possibly damaging Het
Mxd3 T C 13: 55,329,278 N56S probably benign Het
Ntn5 G T 7: 45,694,248 R337L probably damaging Het
Nynrin A G 14: 55,868,505 K894E probably benign Het
Olfr1305 A C 2: 111,873,542 S104R possibly damaging Het
Olfr350 G T 2: 36,850,703 G219V probably benign Het
Olfr447 T A 6: 42,912,338 Y272N probably damaging Het
Olfr859 A T 9: 19,808,685 R122S probably damaging Het
Pappa2 T C 1: 158,715,001 D1772G probably benign Het
Pcdh18 G T 3: 49,755,938 F309L probably benign Het
Pcdhac2 G T 18: 37,145,953 R662L probably damaging Het
Ppp5c G A 7: 17,008,630 S261L possibly damaging Het
Rc3h1 T C 1: 160,938,105 probably benign Het
Rfx8 A C 1: 39,665,522 S578A possibly damaging Het
Rhbdl3 T G 11: 80,353,681 *405E probably null Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf139 G T 15: 58,898,757 L210F probably damaging Het
Rragc A G 4: 123,921,086 R192G possibly damaging Het
Ryr3 A T 2: 112,964,356 V137E probably damaging Het
S100pbp A T 4: 129,182,441 D30E probably damaging Het
Smchd1 A T 17: 71,358,133 probably benign Het
Sppl3 T A 5: 115,082,331 C101S probably benign Het
St5 A G 7: 109,525,331 V1101A probably damaging Het
St8sia6 T C 2: 13,723,513 T74A probably benign Het
Sult3a1 A G 10: 33,866,575 N66S possibly damaging Het
Terf1 T C 1: 15,833,402 S275P probably damaging Het
Tmed8 G T 12: 87,174,216 H199N probably damaging Het
Tubg2 A T 11: 101,156,145 Q9L probably damaging Het
Ubxn4 C T 1: 128,256,111 probably benign Het
Usp34 C T 11: 23,467,243 T2964I possibly damaging Het
Zfp213 A G 17: 23,557,971 S366P possibly damaging Het
Other mutations in Sv2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01463:Sv2b APN 7 75136455 missense probably damaging 1.00
IGL02352:Sv2b APN 7 75136449 missense probably benign 0.01
IGL02359:Sv2b APN 7 75136449 missense probably benign 0.01
IGL02698:Sv2b APN 7 75140978 critical splice donor site probably null
IGL02713:Sv2b APN 7 75124163 missense possibly damaging 0.66
IGL03075:Sv2b APN 7 75136320 missense probably benign
IGL03392:Sv2b APN 7 75156760 critical splice acceptor site probably null
R0015:Sv2b UTSW 7 75125641 missense probably damaging 1.00
R0033:Sv2b UTSW 7 75117741 missense probably benign 0.00
R0033:Sv2b UTSW 7 75117741 missense probably benign 0.00
R0219:Sv2b UTSW 7 75157267 critical splice donor site probably null
R0277:Sv2b UTSW 7 75206439 missense possibly damaging 0.62
R0469:Sv2b UTSW 7 75136392 missense probably benign
R0510:Sv2b UTSW 7 75136392 missense probably benign
R1219:Sv2b UTSW 7 75136412 missense probably benign 0.01
R1307:Sv2b UTSW 7 75206434 missense probably damaging 1.00
R1476:Sv2b UTSW 7 75120043 missense possibly damaging 0.72
R1520:Sv2b UTSW 7 75157329 missense probably damaging 0.98
R1575:Sv2b UTSW 7 75147677 missense probably damaging 0.97
R1585:Sv2b UTSW 7 75147677 missense probably damaging 0.97
R1666:Sv2b UTSW 7 75206341 missense probably benign 0.01
R1712:Sv2b UTSW 7 75149059 missense possibly damaging 0.78
R1864:Sv2b UTSW 7 75124080 missense probably benign 0.17
R1993:Sv2b UTSW 7 75206341 missense probably benign 0.01
R2191:Sv2b UTSW 7 75124088 missense probably damaging 1.00
R3836:Sv2b UTSW 7 75157428 missense probably damaging 1.00
R4744:Sv2b UTSW 7 75206518 missense probably benign 0.01
R4757:Sv2b UTSW 7 75124170 missense probably benign 0.31
R4924:Sv2b UTSW 7 75136421 missense probably benign 0.20
R4990:Sv2b UTSW 7 75117722 missense possibly damaging 0.55
R4991:Sv2b UTSW 7 75117722 missense possibly damaging 0.55
R5038:Sv2b UTSW 7 75157425 missense probably damaging 1.00
R5726:Sv2b UTSW 7 75124214 missense possibly damaging 0.67
R5885:Sv2b UTSW 7 75156753 missense probably damaging 1.00
R6379:Sv2b UTSW 7 75136300 missense possibly damaging 0.73
R6410:Sv2b UTSW 7 75140109 missense probably benign 0.40
R6623:Sv2b UTSW 7 75206384 missense probably damaging 1.00
R6709:Sv2b UTSW 7 75124139 missense probably benign 0.40
R6873:Sv2b UTSW 7 75206206 missense probably damaging 1.00
R6889:Sv2b UTSW 7 75125767 intron probably null
R7123:Sv2b UTSW 7 75117702 missense possibly damaging 0.94
R7278:Sv2b UTSW 7 75147654 missense probably damaging 0.99
R7363:Sv2b UTSW 7 75147654 missense probably damaging 0.99
R7378:Sv2b UTSW 7 75147728 critical splice acceptor site probably null
R7426:Sv2b UTSW 7 75124064 missense probably damaging 1.00
R7452:Sv2b UTSW 7 75147713 missense probably damaging 1.00
R7504:Sv2b UTSW 7 75136383 missense probably benign 0.14
Posted On2015-04-16