Mutagenetix > Incidental Mutation

Incidental Mutation 'R9218:Vamp2'

699327

Institutional Source

Beutler Lab

Gene Symbol

Vamp2

Ensembl Gene

ENSMUSG00000020894

Gene Name

vesicle-associated membrane protein 2

Synonyms

Syb-2, synaptobrevin-2, synaptobrevin II, Syb2, sybII

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.469) question?

Stock #

R9218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68979354-68983207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68980585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000112611 (fasta)

Gene Model

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

AlphaFold

P63044

Predicted Effect

probably benign
Transcript: ENSMUST00000021273
AA Change: D51G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021273
Gene: ENSMUSG00000020894
AA Change: D51G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117780
AA Change: D51G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112611
Gene: ENSMUSG00000020894
AA Change: D51G

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

Meta Mutation Damage Score

0.5043

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (57/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,460 (GRCm39)	T378A	probably damaging	Het
Abcb4	A	G	5: 8,977,960 (GRCm39)	M513V	probably benign	Het
Abhd18	T	C	3: 40,871,201 (GRCm39)		probably null	Het
Adamtsl4	A	T	3: 95,588,404 (GRCm39)	Y561*	probably null	Het
Alx4	T	A	2: 93,473,172 (GRCm39)	F57I	possibly damaging	Het
Ap3b1	A	G	13: 94,584,959 (GRCm39)		probably null	Het
Arsj	A	C	3: 126,232,114 (GRCm39)	N287H	probably benign	Het
Bltp3a	T	A	17: 28,114,529 (GRCm39)	C1387S	probably benign	Het
Cabp4	T	A	19: 4,188,693 (GRCm39)		probably null	Het
Cdcp3	C	T	7: 130,863,728 (GRCm39)	H1244Y	unknown	Het
Cdh6	T	C	15: 13,057,556 (GRCm39)	N255S	probably null	Het
Ctrb1	C	T	8: 112,416,140 (GRCm39)	V49M	probably damaging	Het
Cts3	A	G	13: 61,716,583 (GRCm39)	S18P	possibly damaging	Het
Dcst1	A	T	3: 89,272,412 (GRCm39)	I17N	probably benign	Het
Dennd5a	G	A	7: 109,507,592 (GRCm39)	H823Y	probably damaging	Het
Dmrt2	T	G	19: 25,651,066 (GRCm39)	L84R	possibly damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Fsip2	C	T	2: 82,823,062 (GRCm39)	P6265L	probably damaging	Het
Fxn	T	A	19: 24,239,388 (GRCm39)	K168M	probably damaging	Het
Hc	A	G	2: 34,922,203 (GRCm39)	L541P	probably damaging	Het
Hsd3b5	T	C	3: 98,526,354 (GRCm39)	H364R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Inf2	G	A	12: 112,567,858 (GRCm39)	D163N	possibly damaging	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Iqck	C	T	7: 118,540,902 (GRCm39)	A267V	probably damaging	Het
Kcnh1	A	T	1: 192,135,938 (GRCm39)	N66I	unknown	Het
Kif16b	T	A	2: 142,541,583 (GRCm39)	E1239V	possibly damaging	Het
Mctp1	A	G	13: 76,871,816 (GRCm39)	D362G	possibly damaging	Het
Muc5ac	T	A	7: 141,361,098 (GRCm39)	S1470T	probably damaging	Het
Neb	A	G	2: 52,183,638 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,312 (GRCm39)	L151*	probably null	Het
Or4e1	A	T	14: 52,700,788 (GRCm39)	V226E	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,373 (GRCm39)	I230T	possibly damaging	Het
Otof	T	A	5: 30,542,469 (GRCm39)	Q693L	probably benign	Het
Pitpnm2	G	A	5: 124,265,344 (GRCm39)	S753F	probably damaging	Het
Pkd1l3	C	A	8: 110,382,128 (GRCm39)	S1632*	probably null	Het
Pkhd1l1	A	G	15: 44,384,122 (GRCm39)	T1171A	possibly damaging	Het
Plpp2	A	G	10: 79,366,501 (GRCm39)	F104L	probably damaging	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Pms2	G	A	5: 143,867,945 (GRCm39)	V850I	probably benign	Het
Psmd5	G	T	2: 34,747,794 (GRCm39)	Q288K	probably benign	Het
Rab37	G	A	11: 115,051,475 (GRCm39)	R194H	probably damaging	Het
Sds	C	T	5: 120,621,677 (GRCm39)	A273V	probably damaging	Het
Sema4f	A	G	6: 82,890,480 (GRCm39)	S776P	probably benign	Het
Sh3tc2	T	C	18: 62,101,101 (GRCm39)	C65R	probably benign	Het
Siglece	C	T	7: 43,307,162 (GRCm39)	R275H	possibly damaging	Het
Slc6a12	G	A	6: 121,335,623 (GRCm39)	A318T	probably damaging	Het
Smcr8	A	T	11: 60,670,705 (GRCm39)	I618L	probably benign	Het
Stt3a	A	G	9: 36,670,556 (GRCm39)	F72L	probably damaging	Het
Tecpr1	T	C	5: 144,154,049 (GRCm39)	K135E	possibly damaging	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Tnpo2	C	A	8: 85,776,609 (GRCm39)	H439N	possibly damaging	Het
Tut4	A	T	4: 108,370,083 (GRCm39)	K661*	probably null	Het
Txlnb	C	T	10: 17,718,570 (GRCm39)	S467F	probably damaging	Het
Tyw5	G	A	1: 57,435,948 (GRCm39)	P81S	probably damaging	Het
Vmn1r220	T	A	13: 23,368,609 (GRCm39)	Y29F	probably benign	Het
Vmn2r80	A	G	10: 79,030,270 (GRCm39)	T699A	possibly damaging	Het
Vps9d1	G	A	8: 123,977,674 (GRCm39)	T87I	probably benign	Het
Zfhx3	T	C	8: 109,520,501 (GRCm39)	V541A	probably benign	Het
Zmym4	A	T	4: 126,809,415 (GRCm39)	L295Q	probably damaging	Het

Other mutations in Vamp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Vamp2	APN	11	68,981,483 (GRCm39)	missense	probably benign	0.27
IGL02541:Vamp2	APN	11	68,979,977 (GRCm39)	missense	unknown
PIT4378001:Vamp2	UTSW	11	68,980,564 (GRCm39)	missense	probably benign	0.02
R0048:Vamp2	UTSW	11	68,980,585 (GRCm39)	missense	possibly damaging	0.63
R0048:Vamp2	UTSW	11	68,980,585 (GRCm39)	missense	possibly damaging	0.63
R3945:Vamp2	UTSW	11	68,980,000 (GRCm39)	missense	unknown
R4827:Vamp2	UTSW	11	68,980,637 (GRCm39)	missense	probably benign	0.01
R4929:Vamp2	UTSW	11	68,979,488 (GRCm39)	intron	probably benign
Z1176:Vamp2	UTSW	11	68,980,609 (GRCm39)	missense	probably benign	0.22
Z1186:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1186:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign
Z1187:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1187:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign
Z1188:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1188:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign
Z1189:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1189:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign
Z1190:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1190:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign
Z1191:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1191:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign
Z1192:Vamp2	UTSW	11	68,980,889 (GRCm39)	missense	possibly damaging	0.75
Z1192:Vamp2	UTSW	11	68,979,411 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGACCCTGATGTGTGCTC -3'
(R):5'- TGACACAGTGACACCCTACTTC -3'

Sequencing Primer
(F):5'- CATGTCCCCTAGGTGTGCTAG -3'
(R):5'- GTGACACCCTACTTCCCCACTG -3'

Posted On

2022-02-07