Incidental Mutation 'R5543:Vamp3'
ID 436087
Institutional Source Beutler Lab
Gene Symbol Vamp3
Ensembl Gene ENSMUSG00000028955
Gene Name vesicle-associated membrane protein 3
Synonyms cellubrevin, D130027G05Rik, VAMP-3, ceb
MMRRC Submission 043101-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5543 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 151131762-151142410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151135477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 47 (L47P)
Ref Sequence ENSEMBL: ENSMUSP00000030797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030797] [ENSMUST00000169423]
AlphaFold P63024
Predicted Effect probably damaging
Transcript: ENSMUST00000030797
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030797
Gene: ENSMUSG00000028955
AA Change: L47P

DomainStartEndE-ValueType
Pfam:Synaptobrevin 15 103 4.2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155446
Predicted Effect probably benign
Transcript: ENSMUST00000169423
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3.1e-11 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1564 2.38e2 SMART
IQ 1578 1600 5.42e0 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation lack vesicle-associated membrane protein 3 but are apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik C A 7: 127,836,353 (GRCm39) S80I probably benign Het
Aak1 T C 6: 86,959,627 (GRCm39) probably null Het
Abcc6 A G 7: 45,638,960 (GRCm39) probably null Het
Acvr1 A G 2: 58,353,157 (GRCm39) S268P probably damaging Het
Apod T C 16: 31,122,351 (GRCm39) probably null Het
Atp5po T C 16: 91,723,418 (GRCm39) I58V probably benign Het
AU040320 C T 4: 126,735,017 (GRCm39) T777M probably damaging Het
Ccne2 A T 4: 11,194,026 (GRCm39) N89I probably benign Het
Cspg4b C A 13: 113,457,407 (GRCm39) T1151K probably damaging Het
Dnah7a A G 1: 53,543,228 (GRCm39) V2314A probably damaging Het
Dop1b T C 16: 93,595,808 (GRCm39) S1881P probably damaging Het
E4f1 A G 17: 24,666,336 (GRCm39) V24A possibly damaging Het
Esrrg A T 1: 187,882,451 (GRCm39) D236V probably damaging Het
Fam240b T A 13: 64,633,736 (GRCm39) I27F possibly damaging Het
Fat1 T A 8: 45,476,516 (GRCm39) I1854N probably damaging Het
Fchsd2 T C 7: 100,920,906 (GRCm39) Y480H probably damaging Het
Fras1 A G 5: 96,676,394 (GRCm39) N47S probably benign Het
Gabrr3 T C 16: 59,253,870 (GRCm39) S196P probably damaging Het
Gbp8 T A 5: 105,165,696 (GRCm39) D319V possibly damaging Het
Hrh3 G T 2: 179,745,763 (GRCm39) A61E probably damaging Het
Idua T C 5: 108,818,095 (GRCm39) I89T probably benign Het
Ifitm3 T A 7: 140,589,730 (GRCm39) I108F unknown Het
Izumo4 T C 10: 80,538,668 (GRCm39) F40S probably damaging Het
Kifc2 A G 15: 76,551,242 (GRCm39) R679G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Ldha A T 7: 46,500,314 (GRCm39) I171F possibly damaging Het
Lrfn4 T C 19: 4,662,191 (GRCm39) S609G probably benign Het
Mmp15 T C 8: 96,094,729 (GRCm39) F201S possibly damaging Het
Myof C T 19: 37,969,778 (GRCm39) V295I probably benign Het
Or1n2 C T 2: 36,797,369 (GRCm39) T137I possibly damaging Het
Or2z2 T A 11: 58,345,993 (GRCm39) M261L probably damaging Het
Or5m12 G T 2: 85,734,672 (GRCm39) A242D probably damaging Het
Parp14 T C 16: 35,655,137 (GRCm39) D1778G probably benign Het
Pcnt A T 10: 76,247,886 (GRCm39) D969E probably benign Het
Pibf1 A T 14: 99,350,428 (GRCm39) N192I probably benign Het
Pitpnm3 A G 11: 71,947,023 (GRCm39) F792S probably damaging Het
Pkd2 T A 5: 104,637,199 (GRCm39) I604N probably damaging Het
Pla2g15 T C 8: 106,887,775 (GRCm39) Y188H probably damaging Het
Plxnc1 G T 10: 94,700,636 (GRCm39) D643E probably benign Het
Prrc2c G A 1: 162,501,080 (GRCm39) P1241L probably damaging Het
Ptprd T C 4: 75,977,990 (GRCm39) E173G probably damaging Het
Shank3 T C 15: 89,416,557 (GRCm39) V232A probably damaging Het
Shbg A G 11: 69,507,564 (GRCm39) I171T probably damaging Het
Slc22a14 A T 9: 119,002,674 (GRCm39) F404L probably benign Het
Slc37a3 C A 6: 39,331,960 (GRCm39) G158C probably damaging Het
Slfn9 C A 11: 82,873,207 (GRCm39) L565F probably damaging Het
Spmip10 G A 18: 56,727,760 (GRCm39) probably benign Het
Trank1 T A 9: 111,195,180 (GRCm39) M1068K probably damaging Het
Trbv15 A T 6: 41,118,187 (GRCm39) I15L probably benign Het
Ttn C T 2: 76,569,918 (GRCm39) V26992M probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b34 T A 5: 87,054,560 (GRCm39) I74F probably damaging Het
Zfp143 T A 7: 109,682,522 (GRCm39) C363* probably null Het
Zfp438 T C 18: 5,213,761 (GRCm39) E399G probably damaging Het
Other mutations in Vamp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1882:Vamp3 UTSW 4 151,135,366 (GRCm39) intron probably benign
R1944:Vamp3 UTSW 4 151,140,617 (GRCm39) critical splice donor site probably null
R8540:Vamp3 UTSW 4 151,135,507 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGTTGGCCAAGATTCTACCC -3'
(R):5'- TCCTTCTTAAGTGGAAGTTTAGCTC -3'

Sequencing Primer
(F):5'- GTTGGCCAAGATTCTACCCACTAC -3'
(R):5'- ACAAAGTGCCCATAGGTG -3'
Posted On 2016-10-24