Incidental Mutation 'R3153:Sv2a'
ID 264451
Institutional Source Beutler Lab
Gene Symbol Sv2a
Ensembl Gene ENSMUSG00000038486
Gene Name synaptic vesicle glycoprotein 2a
Synonyms
MMRRC Submission 040604-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3153 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96088543-96102499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96092574 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JIS5
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: 152,282,744 (GRCm39) N200H probably damaging Het
Abca17 T A 17: 24,547,720 (GRCm39) D218V probably damaging Het
Abhd12 A G 2: 150,676,275 (GRCm39) F361L probably benign Het
Abr A T 11: 76,377,295 (GRCm39) I59N probably damaging Het
Agbl1 A G 7: 76,369,944 (GRCm39) E681G probably damaging Het
B3gnt4 G T 5: 123,648,716 (GRCm39) R27L probably benign Het
Cct8l1 A C 5: 25,722,137 (GRCm39) E284A probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cndp2 C A 18: 84,686,722 (GRCm39) M433I probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Col20a1 C T 2: 180,650,386 (GRCm39) P1074L probably damaging Het
Coq6 G A 12: 84,418,309 (GRCm39) V298M probably damaging Het
Cpt1a A G 19: 3,406,430 (GRCm39) Y132C probably damaging Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Eps8l1 A T 7: 4,474,798 (GRCm39) I321F probably damaging Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fcrl5 T C 3: 87,350,987 (GRCm39) F166L probably benign Het
Gatc T C 5: 115,473,546 (GRCm39) E131G probably benign Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gprc5b G A 7: 118,575,770 (GRCm39) P385L probably damaging Het
Gsc2 G A 16: 17,732,364 (GRCm39) R137W probably damaging Het
Hsd3b1 T C 3: 98,759,980 (GRCm39) D337G probably damaging Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Kank1 T A 19: 25,388,052 (GRCm39) V575E possibly damaging Het
Kcnmb1 A T 11: 33,916,339 (GRCm39) D95V probably damaging Het
L3mbtl4 T A 17: 68,764,243 (GRCm39) Y125* probably null Het
Lce1h C T 3: 92,670,982 (GRCm39) G57R unknown Het
Lgalsl A G 11: 20,776,487 (GRCm39) F135S probably damaging Het
Lrba A G 3: 86,192,526 (GRCm39) M147V probably damaging Het
Mdm2 T C 10: 117,545,618 (GRCm39) E23G possibly damaging Het
Mthfd1 C A 12: 76,358,737 (GRCm39) Q67K probably benign Het
Mtus2 T C 5: 148,019,870 (GRCm39) L755P probably damaging Het
Or5m13b T C 2: 85,754,074 (GRCm39) V154A probably benign Het
Orc3 A G 4: 34,575,124 (GRCm39) F587L probably damaging Het
Pcdhb7 C T 18: 37,476,126 (GRCm39) P421S probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Pkd1l1 A C 11: 8,817,207 (GRCm39) S1364A probably benign Het
Rin3 A C 12: 102,334,800 (GRCm39) E157A unknown Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Rph3a T C 5: 121,111,440 (GRCm39) T47A probably damaging Het
Sap18 T C 14: 58,039,402 (GRCm39) M68T probably benign Het
Sfrp2 A G 3: 83,680,577 (GRCm39) T246A probably benign Het
Slc18a3 A G 14: 32,185,228 (GRCm39) V385A probably benign Het
Slitrk3 C T 3: 72,956,315 (GRCm39) W819* probably null Het
Smap1 A T 1: 23,892,630 (GRCm39) D111E probably damaging Het
Spesp1 G A 9: 62,189,376 (GRCm39) probably benign Het
Styk1 A T 6: 131,286,975 (GRCm39) Y84* probably null Het
Tbc1d5 A G 17: 51,275,264 (GRCm39) I77T probably damaging Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Zbtb38 T C 9: 96,570,302 (GRCm39) K261E probably benign Het
Zfp202 T C 9: 40,119,734 (GRCm39) L179P probably benign Het
Zkscan5 T A 5: 145,149,437 (GRCm39) S251R probably benign Het
Other mutations in Sv2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Sv2a APN 3 96,100,600 (GRCm39) missense probably benign 0.00
IGL01081:Sv2a APN 3 96,097,012 (GRCm39) missense probably benign 0.35
IGL01786:Sv2a APN 3 96,095,525 (GRCm39) missense probably benign 0.08
IGL02220:Sv2a APN 3 96,098,032 (GRCm39) missense probably benign 0.13
IGL02701:Sv2a APN 3 96,094,447 (GRCm39) missense probably damaging 0.99
IGL02740:Sv2a APN 3 96,092,723 (GRCm39) missense possibly damaging 0.92
IGL03067:Sv2a APN 3 96,092,498 (GRCm39) missense probably damaging 1.00
R0760:Sv2a UTSW 3 96,095,498 (GRCm39) missense probably damaging 1.00
R2070:Sv2a UTSW 3 96,101,191 (GRCm39) missense possibly damaging 0.95
R2071:Sv2a UTSW 3 96,101,191 (GRCm39) missense possibly damaging 0.95
R2902:Sv2a UTSW 3 96,101,072 (GRCm39) missense possibly damaging 0.84
R3014:Sv2a UTSW 3 96,096,751 (GRCm39) nonsense probably null
R4472:Sv2a UTSW 3 96,099,810 (GRCm39) missense probably benign 0.36
R4653:Sv2a UTSW 3 96,098,078 (GRCm39) critical splice donor site probably null
R4791:Sv2a UTSW 3 96,099,874 (GRCm39) missense possibly damaging 0.68
R4844:Sv2a UTSW 3 96,095,695 (GRCm39) missense probably damaging 1.00
R4919:Sv2a UTSW 3 96,098,071 (GRCm39) missense probably benign 0.44
R5230:Sv2a UTSW 3 96,092,776 (GRCm39) missense probably damaging 1.00
R5305:Sv2a UTSW 3 96,092,774 (GRCm39) missense possibly damaging 0.83
R5656:Sv2a UTSW 3 96,092,888 (GRCm39) missense probably damaging 1.00
R5659:Sv2a UTSW 3 96,097,619 (GRCm39) missense possibly damaging 0.96
R5722:Sv2a UTSW 3 96,092,339 (GRCm39) missense probably benign 0.01
R6299:Sv2a UTSW 3 96,095,565 (GRCm39) critical splice donor site probably null
R6315:Sv2a UTSW 3 96,095,502 (GRCm39) missense probably benign 0.06
R7192:Sv2a UTSW 3 96,101,062 (GRCm39) missense probably damaging 1.00
R7374:Sv2a UTSW 3 96,095,525 (GRCm39) missense probably benign 0.08
R7691:Sv2a UTSW 3 96,095,727 (GRCm39) missense probably benign 0.00
R8795:Sv2a UTSW 3 96,094,396 (GRCm39) missense probably benign 0.00
R9009:Sv2a UTSW 3 96,094,409 (GRCm39) missense probably benign 0.05
R9143:Sv2a UTSW 3 96,097,983 (GRCm39) missense possibly damaging 0.83
R9149:Sv2a UTSW 3 96,097,010 (GRCm39) missense probably benign 0.02
R9335:Sv2a UTSW 3 96,092,588 (GRCm39) missense probably damaging 1.00
R9349:Sv2a UTSW 3 96,096,795 (GRCm39) critical splice donor site probably null
X0026:Sv2a UTSW 3 96,096,768 (GRCm39) 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 On 2015-02-05