Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Slc18a2'

359964

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc18a2

Ensembl Gene

ENSMUSG00000025094

Gene Name

solute carrier family 18 (vesicular monoamine), member 2

Synonyms

Vmat2, 1110037L13Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

59260878-59296012 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 59274490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026084]

AlphaFold

Q8BRU6

Predicted Effect

probably benign
Transcript: ENSMUST00000026084

SMART Domains

Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	428	6.8e-40	PFAM
Pfam:Sugar_tr	26	284	5.9e-10	PFAM
Pfam:MFS_2	127	457	4.3e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]
PHENOTYPE: Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642		probably benign	Het
Acvr1	A	G	2: 58,462,952	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616		probably null	Het
Btnl9	A	T	11: 49,174,867		probably benign	Het
Dbx1	T	A	7: 49,636,577	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073		probably benign	Het
Dnmt1	T	C	9: 20,927,111	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673		probably benign	Het
Gpr45	C	T	1: 43,032,493	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553		probably benign	Het
Kdelc2	A	G	9: 53,392,105	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894		probably null	Het
Lgr4	T	C	2: 110,008,210		probably benign	Het
Lrrc9	C	T	12: 72,478,768	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406		probably null	Het
Nectin1	A	G	9: 43,803,552	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373	N1006K	probably damaging	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083	V255F	probably benign	Het
St5	T	C	7: 109,556,364	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438	E273G	possibly damaging	Het

Other mutations in Slc18a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Slc18a2	APN	19	59284384	missense	probably benign	0.02
IGL01956:Slc18a2	APN	19	59287176	splice site	probably benign
IGL02220:Slc18a2	APN	19	59276556	missense	probably benign	0.01
IGL02389:Slc18a2	APN	19	59263301	splice site	probably benign
PIT4585001:Slc18a2	UTSW	19	59293861	missense	possibly damaging	0.47
R0373:Slc18a2	UTSW	19	59287367	missense	probably benign
R1972:Slc18a2	UTSW	19	59274653	missense	possibly damaging	0.89
R2018:Slc18a2	UTSW	19	59276505	missense	possibly damaging	0.90
R3508:Slc18a2	UTSW	19	59273557	missense	probably benign	0.03
R5313:Slc18a2	UTSW	19	59293843	missense	probably benign	0.04
R5574:Slc18a2	UTSW	19	59261405	missense	probably benign	0.09
R6102:Slc18a2	UTSW	19	59293878	missense	probably benign	0.00
R7569:Slc18a2	UTSW	19	59284152	missense	probably damaging	0.96
R7607:Slc18a2	UTSW	19	59284358	missense	probably benign	0.43
R7818:Slc18a2	UTSW	19	59263161	missense	probably benign
R8059:Slc18a2	UTSW	19	59284140	missense	probably benign	0.06
R8762:Slc18a2	UTSW	19	59272923	missense	probably benign	0.27
R8841:Slc18a2	UTSW	19	59273281	missense	probably damaging	1.00
R9110:Slc18a2	UTSW	19	59293894	missense	probably benign	0.01
R9230:Slc18a2	UTSW	19	59273215	missense	probably benign	0.04
R9368:Slc18a2	UTSW	19	59274359	missense	probably benign	0.22

Posted On

2015-12-18