Incidental Mutation 'R4844:Sv2a'
ID 372034
Institutional Source Beutler Lab
Gene Symbol Sv2a
Ensembl Gene ENSMUSG00000038486
Gene Name synaptic vesicle glycoprotein 2a
Synonyms
MMRRC Submission 042457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4844 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96088543-96102499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96095695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 337 (V337D)
Ref Sequence ENSEMBL: ENSMUSP00000037576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035371]
AlphaFold Q9JIS5
Predicted Effect probably damaging
Transcript: ENSMUST00000035371
AA Change: V337D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: V337D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196912
Meta Mutation Damage Score 0.9218 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (68/70)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,634,824 (GRCm39) T147A probably benign Het
Acvrl1 T C 15: 101,033,409 (GRCm39) S99P probably damaging Het
Adamts3 T A 5: 89,825,675 (GRCm39) S1055C probably damaging Het
Aftph T C 11: 20,658,667 (GRCm39) probably benign Het
Aldh1a1 A G 19: 20,611,764 (GRCm39) K363E probably benign Het
Astn2 A G 4: 65,562,967 (GRCm39) V886A possibly damaging Het
Atad5 G A 11: 80,005,137 (GRCm39) probably null Het
C9orf72 A G 4: 35,213,565 (GRCm39) V31A possibly damaging Het
Ccnf G T 17: 24,449,331 (GRCm39) Y482* probably null Het
Cfap97 A G 8: 46,622,712 (GRCm39) D34G possibly damaging Het
Chst11 G T 10: 83,026,923 (GRCm39) E117* probably null Het
Cobl A T 11: 12,204,740 (GRCm39) L572Q probably benign Het
Coch G A 12: 51,649,477 (GRCm39) G263S probably damaging Het
Coq4 T C 2: 29,686,026 (GRCm39) I205T possibly damaging Het
Cyp3a13 A T 5: 137,915,813 (GRCm39) I62K probably benign Het
Cyp7a1 A G 4: 6,273,655 (GRCm39) S84P probably damaging Het
Dennd10 GTCT GT 19: 60,823,435 (GRCm39) probably null Het
G6pc3 G A 11: 102,084,057 (GRCm39) probably null Het
Gm10576 T C 4: 100,911,707 (GRCm39) noncoding transcript Het
Gm17511 G A 7: 126,885,454 (GRCm39) noncoding transcript Het
Gnat2 T C 3: 108,002,831 (GRCm39) S80P probably damaging Het
Gpaa1 C T 15: 76,216,508 (GRCm39) probably benign Het
Gpr107 T A 2: 31,078,686 (GRCm39) probably null Het
Hormad1 T C 3: 95,478,242 (GRCm39) Y103H probably damaging Het
Ighv14-1 T G 12: 113,895,622 (GRCm39) Q101P probably damaging Het
Igsf9 A G 1: 172,324,737 (GRCm39) D885G probably benign Het
Il15ra G A 2: 11,723,082 (GRCm39) probably benign Het
Islr2 C T 9: 58,115,517 (GRCm39) probably benign Het
Jak3 A T 8: 72,134,299 (GRCm39) N467I possibly damaging Het
Jarid2 T C 13: 45,067,248 (GRCm39) V1023A probably damaging Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2c T C 5: 25,520,111 (GRCm39) T2000A probably benign Het
Lpxn A G 19: 12,810,536 (GRCm39) T327A probably damaging Het
Mxra8 A G 4: 155,927,151 (GRCm39) T362A probably benign Het
Myh6 A G 14: 55,184,651 (GRCm39) I1560T possibly damaging Het
Ndufv1 A G 19: 4,062,574 (GRCm39) S17P probably benign Het
Nwd1 A T 8: 73,393,742 (GRCm39) H335L probably damaging Het
Or1a1 A G 11: 74,086,902 (GRCm39) D191G probably damaging Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Otop2 G A 11: 115,214,201 (GRCm39) probably null Het
Pwwp2b C A 7: 138,835,502 (GRCm39) S314R probably benign Het
Rfx7 C T 9: 72,500,524 (GRCm39) Q95* probably null Het
Serpine2 A T 1: 79,777,241 (GRCm39) L192* probably null Het
Smpdl3b T C 4: 132,465,369 (GRCm39) I322M probably damaging Het
Spata31d1b C T 13: 59,866,169 (GRCm39) R1106C possibly damaging Het
Sprr2k T G 3: 92,336,732 (GRCm39) probably null Het
St8sia1 T A 6: 142,774,996 (GRCm39) R194S possibly damaging Het
Tars1 G A 15: 11,385,281 (GRCm39) R637W possibly damaging Het
Tcp11l2 G T 10: 84,449,555 (GRCm39) V507L probably benign Het
Tpr T C 1: 150,321,630 (GRCm39) Y2262H possibly damaging Het
Vars1 A G 17: 35,230,588 (GRCm39) E529G probably damaging Het
Vash2 C T 1: 190,710,691 (GRCm39) probably benign Het
Vmn1r194 T C 13: 22,429,223 (GRCm39) V280A probably benign Het
Vti1a A G 19: 55,380,297 (GRCm39) T142A probably damaging Het
Zfp111 C T 7: 23,898,801 (GRCm39) C270Y probably damaging Het
Zfp518a T A 19: 40,903,340 (GRCm39) Y1090N probably damaging Het
Zfp616 A T 11: 73,975,225 (GRCm39) Y498F 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
R3153:Sv2a UTSW 3 96,092,574 (GRCm39) missense possibly damaging 0.75
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
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'- ATCGGTGGAGTGTATGCAGC -3'
(R):5'- ATCCTCCAGAGTTATGGGCTTG -3'

Sequencing Primer
(F):5'- AGCTGCAATGGCCTGGG -3'
(R):5'- GAGCAATCCATTCACCTC -3'
Posted On 2016-03-01