Incidental Mutation 'R3153:Sv2a'
ID264451
Institutional Source Beutler Lab
Gene Symbol Sv2a
Ensembl Gene ENSMUSG00000038486
Gene Namesynaptic vesicle glycoprotein 2 a
Synonyms
MMRRC Submission 040604-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3153 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location96181151-96195521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96185258 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 91 (D91E)
Ref Sequence ENSEMBL: ENSMUSP00000037576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035371]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035371
AA Change: D91E

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: D91E

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,440,824 N200H probably damaging Het
Abca17 T A 17: 24,328,746 D218V probably damaging Het
Abhd12 A G 2: 150,834,355 F361L probably benign Het
Abr A T 11: 76,486,469 I59N probably damaging Het
Agbl1 A G 7: 76,720,196 E681G probably damaging Het
B3gnt4 G T 5: 123,510,653 R27L probably benign Het
Cct8l1 A C 5: 25,517,139 E284A probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chrna3 C T 9: 55,016,050 C158Y probably damaging Het
Cndp2 C A 18: 84,668,597 M433I probably benign Het
Cnnm3 T A 1: 36,521,222 S608T probably damaging Het
Cnot1 T C 8: 95,744,278 E1314G possibly damaging Het
Col20a1 C T 2: 181,008,593 P1074L probably damaging Het
Coq6 G A 12: 84,371,535 V298M probably damaging Het
Cpt1a A G 19: 3,356,430 Y132C probably damaging Het
Dcdc2a A C 13: 25,102,357 I125L probably benign Het
Eps8l1 A T 7: 4,471,799 I321F probably damaging Het
Fancd2 A G 6: 113,593,269 S1394G possibly damaging Het
Fcrl5 T C 3: 87,443,680 F166L probably benign Het
Gatc T C 5: 115,335,487 E131G probably benign Het
Gpld1 T C 13: 24,943,620 S2P unknown Het
Gprc5b G A 7: 118,976,547 P385L probably damaging Het
Gsc2 G A 16: 17,914,500 R137W probably damaging Het
Hsd3b1 T C 3: 98,852,664 D337G probably damaging Het
Ireb2 T C 9: 54,885,946 probably null Het
Kank1 T A 19: 25,410,688 V575E possibly damaging Het
Kcnmb1 A T 11: 33,966,339 D95V probably damaging Het
L3mbtl4 T A 17: 68,457,248 Y125* probably null Het
Lce1h C T 3: 92,763,675 G57R unknown Het
Lgalsl A G 11: 20,826,487 F135S probably damaging Het
Lrba A G 3: 86,285,219 M147V probably damaging Het
Mdm2 T C 10: 117,709,713 E23G possibly damaging Het
Mthfd1 C A 12: 76,311,963 Q67K probably benign Het
Mtus2 T C 5: 148,083,060 L755P probably damaging Het
Olfr1026 T C 2: 85,923,730 V154A probably benign Het
Orc3 A G 4: 34,575,124 F587L probably damaging Het
Pcdhb7 C T 18: 37,343,073 P421S probably damaging Het
Pgk2 T A 17: 40,208,243 D98V probably damaging Het
Pkd1l1 A C 11: 8,867,207 S1364A probably benign Het
Rin3 A C 12: 102,368,541 E157A unknown Het
Rnf126 A T 10: 79,761,631 I149N probably damaging Het
Rph3a T C 5: 120,973,377 T47A probably damaging Het
Sap18 T C 14: 57,801,945 M68T probably benign Het
Sfrp2 A G 3: 83,773,270 T246A probably benign Het
Slc18a3 A G 14: 32,463,271 V385A probably benign Het
Slitrk3 C T 3: 73,048,982 W819* probably null Het
Smap1 A T 1: 23,853,549 D111E probably damaging Het
Spesp1 G A 9: 62,282,094 probably benign Het
Styk1 A T 6: 131,310,012 Y84* probably null Het
Tbc1d5 A G 17: 50,968,236 I77T probably damaging Het
Trim10 T A 17: 36,871,688 C149S probably damaging Het
Zbtb38 T C 9: 96,688,249 K261E probably benign Het
Zfp202 T C 9: 40,208,438 L179P probably benign Het
Zkscan5 T A 5: 145,212,627 S251R 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
IGL02701:Sv2a APN 3 96187131 missense probably damaging 0.99
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
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
X0026:Sv2a UTSW 3 96189452 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGGCCAAAGACATTGCCAAG -3'
(R):5'- TGAGCCAATTCTTCCCGATC -3'

Sequencing Primer
(F):5'- TGAAGGGCCTTGACAGAGTCC -3'
(R):5'- GAGCCAATTCTTCCCGATCTTTACG -3'
Posted On2015-02-05