Incidental Mutation 'R5591:Vamp4'
ID 437502
Institutional Source Beutler Lab
Gene Symbol Vamp4
Ensembl Gene ENSMUSG00000026696
Gene Name vesicle-associated membrane protein 4
Synonyms D1Ertd147e
MMRRC Submission 043269-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.538) question?
Stock # R5591 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 162398084-162426651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 162415811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 71 (I71V)
Ref Sequence ENSEMBL: ENSMUSP00000142298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050010] [ENSMUST00000132158] [ENSMUST00000135241] [ENSMUST00000150040] [ENSMUST00000155003] [ENSMUST00000194810]
AlphaFold O70480
Predicted Effect possibly damaging
Transcript: ENSMUST00000050010
AA Change: I71V

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051544
Gene: ENSMUSG00000026696
AA Change: I71V

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Pfam:Synaptobrevin 49 137 7.7e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132158
AA Change: I71V

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121977
Gene: ENSMUSG00000026696
AA Change: I71V

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Pfam:Synaptobrevin 49 137 7.7e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135241
AA Change: I71V

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116376
Gene: ENSMUSG00000026696
AA Change: I71V

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Pfam:Synaptobrevin 49 137 1.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138499
Predicted Effect possibly damaging
Transcript: ENSMUST00000150040
AA Change: I71V

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115133
Gene: ENSMUSG00000026696
AA Change: I71V

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Pfam:Synaptobrevin 49 137 7.8e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155003
AA Change: I71V

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114172
Gene: ENSMUSG00000026696
AA Change: I71V

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Pfam:Synaptobrevin 49 137 7.8e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194810
AA Change: I71V

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142298
Gene: ENSMUSG00000026696
AA Change: I71V

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
PDB:2NPS|A 46 77 1e-12 PDB
Meta Mutation Damage Score 0.1459 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (56/58)
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 SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T C 7: 44,794,076 (GRCm39) E13G probably null Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Bub1 A T 2: 127,661,263 (GRCm39) M276K probably benign Het
Casp14 A T 10: 78,550,179 (GRCm39) D156E unknown Het
Ccdc82 T A 9: 13,272,822 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,289,521 (GRCm39) N436S probably benign Het
Cyp2j12 A G 4: 96,029,359 (GRCm39) probably benign Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Daxx T C 17: 34,130,662 (GRCm39) S226P probably damaging Het
Gm3676 T C 14: 41,365,181 (GRCm39) Y158C probably benign Het
Gnai1 A T 5: 18,476,844 (GRCm39) I285K probably benign Het
Gpr179 C T 11: 97,236,581 (GRCm39) V417I probably benign Het
Helz2 C T 2: 180,882,051 (GRCm39) M247I probably damaging Het
Hmcn2 C T 2: 31,234,059 (GRCm39) L275F probably damaging Het
Ifi27l2b A G 12: 103,417,566 (GRCm39) V207A probably damaging Het
Isg20l2 C T 3: 87,837,731 (GRCm39) probably benign Het
Itga6 A G 2: 71,670,934 (GRCm39) D221G probably damaging Het
Lca5l T C 16: 95,979,929 (GRCm39) Y67C probably damaging Het
Loxl3 T A 6: 83,025,018 (GRCm39) C249S probably damaging Het
Luc7l3 T C 11: 94,184,060 (GRCm39) probably benign Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mbd5 A C 2: 49,164,681 (GRCm39) Q958H probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrm3 G A 11: 76,140,907 (GRCm39) R305H probably benign Het
Mtrex A T 13: 113,063,890 (GRCm39) M1K probably null Het
Or10ak7 A T 4: 118,791,658 (GRCm39) I127K probably damaging Het
Or1j18 A T 2: 36,625,244 (GRCm39) I304F probably benign Het
Or2aj5 T A 16: 19,424,608 (GRCm39) Q270L probably damaging Het
Or2ak7 A G 11: 58,574,951 (GRCm39) N84S probably benign Het
Or2d3c A T 7: 106,526,489 (GRCm39) M59K probably damaging Het
Or4c126 A G 2: 89,823,751 (GRCm39) T5A possibly damaging Het
Or51q1 G T 7: 103,629,320 (GRCm39) R307L probably benign Het
P3h3 C T 6: 124,831,658 (GRCm39) probably benign Het
Pals2 A G 6: 50,157,159 (GRCm39) S276G probably benign Het
Plekhg3 C T 12: 76,607,066 (GRCm39) S42L possibly damaging Het
Polq A G 16: 36,832,247 (GRCm39) probably benign Het
Pramel16 T C 4: 143,675,377 (GRCm39) Y483C probably damaging Het
Pramel28 G T 4: 143,691,530 (GRCm39) L398I probably damaging Het
Raph1 G A 1: 60,540,905 (GRCm39) probably benign Het
Rnf144b G A 13: 47,396,430 (GRCm39) probably null Het
Ryr2 A G 13: 11,609,900 (GRCm39) S4309P probably benign Het
Sash1 A T 10: 8,601,482 (GRCm39) S1158T probably benign Het
Sim2 T C 16: 93,898,048 (GRCm39) V94A probably damaging Het
Sirt5 A G 13: 43,525,317 (GRCm39) D42G possibly damaging Het
Smarcal1 A T 1: 72,630,412 (GRCm39) K155N probably damaging Het
Spam1 A G 6: 24,800,545 (GRCm39) Y428C probably damaging Het
Spef2 T C 15: 9,583,922 (GRCm39) N1655S probably benign Het
Sympk A G 7: 18,787,964 (GRCm39) E1160G probably damaging Het
Tmem192 A G 8: 65,418,254 (GRCm39) Y168C possibly damaging Het
Ttn T A 2: 76,540,012 (GRCm39) M25998L probably benign Het
Usp48 A G 4: 137,379,963 (GRCm39) probably benign Het
Washc5 C A 15: 59,241,012 (GRCm39) D108Y probably damaging Het
Wdfy4 T A 14: 32,829,087 (GRCm39) H1043L probably benign Het
Zcchc14 C T 8: 122,332,187 (GRCm39) probably benign Het
Zfp407 A G 18: 84,579,262 (GRCm39) F617S probably damaging Het
Zfp869 T A 8: 70,160,342 (GRCm39) N77I probably benign Het
Other mutations in Vamp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02240:Vamp4 APN 1 162,405,446 (GRCm39) missense possibly damaging 0.92
R0103:Vamp4 UTSW 1 162,417,108 (GRCm39) missense possibly damaging 0.92
R0103:Vamp4 UTSW 1 162,417,108 (GRCm39) missense possibly damaging 0.92
R4512:Vamp4 UTSW 1 162,405,457 (GRCm39) missense possibly damaging 0.79
R5590:Vamp4 UTSW 1 162,420,248 (GRCm39) critical splice donor site probably null
R5723:Vamp4 UTSW 1 162,401,932 (GRCm39) missense possibly damaging 0.79
R8831:Vamp4 UTSW 1 162,401,952 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTGAGCATTCTGTCAGTGTCTG -3'
(R):5'- GATCTCGGAAGCCACGATTC -3'

Sequencing Primer
(F):5'- CTTGGCTATTCAGACCCAGAAATGG -3'
(R):5'- ACGATTCCTGAACACGGGC -3'
Posted On 2016-10-26