Incidental Mutation 'IGL02701:Sv2a'
ID 304119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sv2a
Ensembl Gene ENSMUSG00000038486
Gene Name synaptic vesicle glycoprotein 2 a
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02701
Quality Score
Status
Chromosome 3
Chromosomal Location 96181151-96195521 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96187131 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 261 (C261S)
Ref Sequence ENSEMBL: ENSMUSP00000037576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035371]
AlphaFold Q9JIS5
Predicted Effect probably damaging
Transcript: ENSMUST00000035371
AA Change: C261S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: C261S

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 123 138 N/A INTRINSIC
Pfam:Sugar_tr 149 484 5.3e-30 PFAM
Pfam:MFS_1 168 483 1.6e-24 PFAM
Pfam:Pentapeptide_4 513 585 7.7e-11 PFAM
Pfam:MFS_1 561 739 3.9e-12 PFAM
Pfam:Sugar_tr 588 742 4.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133665
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Cnrip1 A G 11: 17,078,415 T116A probably benign Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Dalrd3 T A 9: 108,572,284 V143D possibly damaging Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Gde1 T A 7: 118,698,637 T9S probably damaging Het
Ggcx T A 6: 72,418,472 probably benign Het
Gm813 G A 16: 58,615,807 S51L probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Rpl14 T C 9: 120,573,573 probably benign Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Tspan4 G A 7: 141,492,028 V205M probably damaging Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Sv2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Sv2a APN 3 96193284 missense probably benign 0.00
IGL01081:Sv2a APN 3 96189696 missense probably benign 0.35
IGL01786:Sv2a APN 3 96188209 missense probably benign 0.08
IGL02220:Sv2a APN 3 96190716 missense probably benign 0.13
IGL02740:Sv2a APN 3 96185407 missense possibly damaging 0.92
IGL03067:Sv2a APN 3 96185182 missense probably damaging 1.00
R0760:Sv2a UTSW 3 96188182 missense probably damaging 1.00
R2070:Sv2a UTSW 3 96193875 missense possibly damaging 0.95
R2071:Sv2a UTSW 3 96193875 missense possibly damaging 0.95
R2902:Sv2a UTSW 3 96193756 missense possibly damaging 0.84
R3014:Sv2a UTSW 3 96189435 nonsense probably null
R3153:Sv2a UTSW 3 96185258 missense possibly damaging 0.75
R4472:Sv2a UTSW 3 96192494 missense probably benign 0.36
R4653:Sv2a UTSW 3 96190762 critical splice donor site probably null
R4791:Sv2a UTSW 3 96192558 missense possibly damaging 0.68
R4844:Sv2a UTSW 3 96188379 missense probably damaging 1.00
R4919:Sv2a UTSW 3 96190755 missense probably benign 0.44
R5230:Sv2a UTSW 3 96185460 missense probably damaging 1.00
R5305:Sv2a UTSW 3 96185458 missense possibly damaging 0.83
R5656:Sv2a UTSW 3 96185572 missense probably damaging 1.00
R5659:Sv2a UTSW 3 96190303 missense possibly damaging 0.96
R5722:Sv2a UTSW 3 96185023 missense probably benign 0.01
R6299:Sv2a UTSW 3 96188249 critical splice donor site probably null
R6315:Sv2a UTSW 3 96188186 missense probably benign 0.06
R7192:Sv2a UTSW 3 96193746 missense probably damaging 1.00
R7374:Sv2a UTSW 3 96188209 missense probably benign 0.08
R7691:Sv2a UTSW 3 96188411 missense probably benign 0.00
R8795:Sv2a UTSW 3 96187080 missense probably benign 0.00
R9009:Sv2a UTSW 3 96187093 missense probably benign 0.05
R9143:Sv2a UTSW 3 96190667 missense possibly damaging 0.83
R9149:Sv2a UTSW 3 96189694 missense probably benign 0.02
R9335:Sv2a UTSW 3 96185272 missense probably damaging 1.00
R9349:Sv2a UTSW 3 96189479 critical splice donor site probably null
X0026:Sv2a UTSW 3 96189452 missense probably benign 0.01
Posted On 2015-04-16