Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Vamp2'

279867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vamp2

Ensembl Gene

ENSMUSG00000020894

Gene Name

vesicle-associated membrane protein 2

Synonyms

sybII, Syb-2, synaptobrevin II, Syb2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

69088490-69092384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69090657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 114 (F114L)

Ref Sequence

ENSEMBL: ENSMUSP00000021273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021273] [ENSMUST00000101004] [ENSMUST00000117780]

AlphaFold

P63044

Predicted Effect

probably benign
Transcript: ENSMUST00000021273
AA Change: F114L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021273
Gene: ENSMUSG00000020894
AA Change: F114L

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:Synaptobrevin	28	116	3.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101004

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117780

SMART Domains

Protein: ENSMUSP00000112611
Gene: ENSMUSG00000020894

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:Synaptobrevin	28	113	4.9e-37	PFAM
low complexity region	148	159	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149780

Coding Region Coverage

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 a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. 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. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show 10X reduction in synaptic vesicle fusion and hypertonic sucrose-induced fusion and >100X reduction in fusion triggered by fast Ca2+. Newborn pups are rounded in appearance, with humped shoulders, and die immediately. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in Vamp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Vamp2	APN	11	69089151	missense	unknown
PIT4378001:Vamp2	UTSW	11	69089738	missense	probably benign	0.02
R0048:Vamp2	UTSW	11	69089759	missense	possibly damaging	0.63
R0048:Vamp2	UTSW	11	69089759	missense	possibly damaging	0.63
R3945:Vamp2	UTSW	11	69089174	missense	unknown
R4827:Vamp2	UTSW	11	69089811	missense	probably benign	0.01
R4929:Vamp2	UTSW	11	69088662	intron	probably benign
R9218:Vamp2	UTSW	11	69089759	missense	possibly damaging	0.63
Z1176:Vamp2	UTSW	11	69089783	missense	probably benign	0.22
Z1186:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1186:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75
Z1187:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1187:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75
Z1188:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1188:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75
Z1189:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1189:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75
Z1190:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1190:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75
Z1191:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1191:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75
Z1192:Vamp2	UTSW	11	69088585	start gained	probably benign
Z1192:Vamp2	UTSW	11	69090063	missense	possibly damaging	0.75

Posted On

2015-04-16