Incidental Mutation 'R2414:Vamp8'
ID 250100
Institutional Source Beutler Lab
Gene Symbol Vamp8
Ensembl Gene ENSMUSG00000050732
Gene Name vesicle-associated membrane protein 8
Synonyms endobrevin
MMRRC Submission 040378-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R2414 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 72362204-72367650 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) C to T at 72365326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000145955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059983] [ENSMUST00000142613]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059983
AA Change: M27I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059501
Gene: ENSMUSG00000050732
AA Change: M27I

DomainStartEndE-ValueType
Pfam:Synaptobrevin 9 97 1.5e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142613
AA Change: M1I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.8263 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]
PHENOTYPE: Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 C A 9: 121,738,040 (GRCm39) S138R probably damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Arfgef2 A G 2: 166,687,424 (GRCm39) E216G probably benign Het
Aspscr1 T C 11: 120,580,048 (GRCm39) S196P probably benign Het
AU040320 A T 4: 126,762,484 (GRCm39) probably null Het
BC002059 T C 17: 17,193,932 (GRCm39) noncoding transcript Het
Cep112 A G 11: 108,643,408 (GRCm39) N799S possibly damaging Het
Cilp A G 9: 65,181,927 (GRCm39) probably benign Het
Cpn2 T C 16: 30,079,392 (GRCm39) E103G probably benign Het
Cpt1b G A 15: 89,304,283 (GRCm39) probably benign Het
Epor T A 9: 21,870,785 (GRCm39) D365V probably damaging Het
H2bc21 T A 3: 96,128,750 (GRCm39) I90N possibly damaging Het
Hip1r T C 5: 124,139,306 (GRCm39) Y900H probably damaging Het
Hoxc9 A T 15: 102,892,540 (GRCm39) N251I probably damaging Het
Hpd C T 5: 123,315,587 (GRCm39) probably null Het
Lrrc34 T A 3: 30,688,711 (GRCm39) I197L probably benign Het
Msi2 A G 11: 88,607,373 (GRCm39) V78A probably damaging Het
Myh4 A G 11: 67,141,594 (GRCm39) I818V probably benign Het
Nol4 T C 18: 22,956,629 (GRCm39) probably null Het
Plekha5 A G 6: 140,496,582 (GRCm39) N362S probably damaging Het
Polr1b A G 2: 128,945,054 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,289,831 (GRCm39) probably null Het
Sgsm3 A G 15: 80,890,946 (GRCm39) N136D probably benign Het
Slco1a5 A G 6: 142,181,976 (GRCm39) C583R probably damaging Het
Surf1 A G 2: 26,806,295 (GRCm39) W13R probably damaging Het
Tesk2 T C 4: 116,658,954 (GRCm39) W276R possibly damaging Het
Tmem8b A G 4: 43,673,892 (GRCm39) probably benign Het
Togaram2 T G 17: 72,023,304 (GRCm39) probably benign Het
Ttll11 A G 2: 35,869,546 (GRCm39) S31P unknown Het
Ttll8 A G 15: 88,820,336 (GRCm39) probably benign Het
Tub A G 7: 108,626,240 (GRCm39) K259E probably damaging Het
Ube2o T C 11: 116,439,683 (GRCm39) I162M probably benign Het
Zfp503 C A 14: 22,036,032 (GRCm39) G295* probably null Het
Other mutations in Vamp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Vamp8 APN 6 72,365,316 (GRCm39) missense probably damaging 0.99
R1584:Vamp8 UTSW 6 72,362,617 (GRCm39) missense probably damaging 1.00
R1713:Vamp8 UTSW 6 72,365,270 (GRCm39) missense probably benign 0.41
R3020:Vamp8 UTSW 6 72,365,330 (GRCm39) missense possibly damaging 0.80
R4321:Vamp8 UTSW 6 72,362,536 (GRCm39) missense possibly damaging 0.90
R4889:Vamp8 UTSW 6 72,362,522 (GRCm39) missense possibly damaging 0.94
R8912:Vamp8 UTSW 6 72,365,276 (GRCm39) missense probably benign 0.19
R9378:Vamp8 UTSW 6 72,362,554 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGCCATCTCCTGCATAGG -3'
(R):5'- GTTGAAGCATCAGAAACGGC -3'

Sequencing Primer
(F):5'- GACATGACAGTCTGCAGTCC -3'
(R):5'- TTGAAGCATCAGAAACGGCTAAAATC -3'
Posted On 2014-11-12