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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

59249328-59284444 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 59262922 bp (GRCm39)

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: 71,327,907 (GRCm39)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,252,468 (GRCm39)		probably benign	Het
Acvr1	A	G	2: 58,352,964 (GRCm39)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,271,191 (GRCm39)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,644,786 (GRCm39)		probably null	Het
Btnl9	A	T	11: 49,065,694 (GRCm39)		probably benign	Het
Dbx1	T	A	7: 49,286,325 (GRCm39)	I47F	probably benign	Het
Dennd2b	T	C	7: 109,155,571 (GRCm39)	Y393C	probably damaging	Het
Dnaja3	A	G	16: 4,507,937 (GRCm39)		probably benign	Het
Dnmt1	T	C	9: 20,838,407 (GRCm39)	S220G	probably benign	Het
Dock9	A	T	14: 121,877,390 (GRCm39)	M451K	probably benign	Het
Eml3	A	G	19: 8,911,142 (GRCm39)	Y257C	probably benign	Het
Fam3d	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Fbxw19	C	A	9: 109,324,886 (GRCm39)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Galnt5	C	A	2: 57,917,883 (GRCm39)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm39)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,867,484 (GRCm39)		probably benign	Het
Gpr45	C	T	1: 43,071,653 (GRCm39)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,497,102 (GRCm39)	S302L	probably damaging	Het
Hrg	T	C	16: 22,776,303 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,045,889 (GRCm39)		probably null	Het
Lgr4	T	C	2: 109,838,555 (GRCm39)		probably benign	Het
Lrrc9	C	T	12: 72,525,542 (GRCm39)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mms19	C	T	19: 41,940,845 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,714,849 (GRCm39)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,783,149 (GRCm39)	H87N	probably damaging	Het
Or1e17	G	A	11: 73,831,755 (GRCm39)	V228I	probably benign	Het
Or2ah1	T	A	2: 85,653,856 (GRCm39)	C180*	probably null	Het
Or4b13	A	G	2: 90,082,906 (GRCm39)	L142P	probably damaging	Het
Or52a20	T	A	7: 103,366,090 (GRCm39)	F96L	probably benign	Het
Or5h17	G	T	16: 58,820,640 (GRCm39)	L197F	possibly damaging	Het
Pcsk1	G	T	13: 75,260,739 (GRCm39)	G321C	probably damaging	Het
Poglut3	A	G	9: 53,303,405 (GRCm39)	D99G	probably damaging	Het
Prrc2c	G	T	1: 162,541,868 (GRCm39)	P374T	probably benign	Het
Rusc1	A	T	3: 88,999,257 (GRCm39)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,610,076 (GRCm39)	N4250S	probably benign	Het
Scara5	A	C	14: 65,968,129 (GRCm39)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,857,447 (GRCm39)	K595R	probably benign	Het
Serpinb6a	A	C	13: 34,115,576 (GRCm39)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,234,684 (GRCm39)	N1006K	probably damaging	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,958,003 (GRCm39)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,395,782 (GRCm39)	D611V	probably benign	Het
Spag6	G	T	2: 18,737,894 (GRCm39)	V255F	probably benign	Het
Svep1	C	A	4: 58,123,223 (GRCm39)	G698W	probably damaging	Het
Syne2	T	C	12: 76,013,323 (GRCm39)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,373,524 (GRCm39)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,896,324 (GRCm39)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 87,065,560 (GRCm39)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,192,287 (GRCm39)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,305,539 (GRCm39)	Q74R	probably benign	Het
Vps25	A	G	11: 101,146,916 (GRCm39)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,339,480 (GRCm39)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,970,505 (GRCm39)	E273G	possibly damaging	Het

Other mutations in Slc18a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Slc18a2	APN	19	59,272,816 (GRCm39)	missense	probably benign	0.02
IGL01956:Slc18a2	APN	19	59,275,608 (GRCm39)	splice site	probably benign
IGL02220:Slc18a2	APN	19	59,264,988 (GRCm39)	missense	probably benign	0.01
IGL02389:Slc18a2	APN	19	59,251,733 (GRCm39)	splice site	probably benign
PIT4585001:Slc18a2	UTSW	19	59,282,293 (GRCm39)	missense	possibly damaging	0.47
R0373:Slc18a2	UTSW	19	59,275,799 (GRCm39)	missense	probably benign
R1972:Slc18a2	UTSW	19	59,263,085 (GRCm39)	missense	possibly damaging	0.89
R2018:Slc18a2	UTSW	19	59,264,937 (GRCm39)	missense	possibly damaging	0.90
R3508:Slc18a2	UTSW	19	59,261,989 (GRCm39)	missense	probably benign	0.03
R5313:Slc18a2	UTSW	19	59,282,275 (GRCm39)	missense	probably benign	0.04
R5574:Slc18a2	UTSW	19	59,249,837 (GRCm39)	missense	probably benign	0.09
R6102:Slc18a2	UTSW	19	59,282,310 (GRCm39)	missense	probably benign	0.00
R7569:Slc18a2	UTSW	19	59,272,584 (GRCm39)	missense	probably damaging	0.96
R7607:Slc18a2	UTSW	19	59,272,790 (GRCm39)	missense	probably benign	0.43
R7818:Slc18a2	UTSW	19	59,251,593 (GRCm39)	missense	probably benign
R8059:Slc18a2	UTSW	19	59,272,572 (GRCm39)	missense	probably benign	0.06
R8762:Slc18a2	UTSW	19	59,261,355 (GRCm39)	missense	probably benign	0.27
R8841:Slc18a2	UTSW	19	59,261,713 (GRCm39)	missense	probably damaging	1.00
R9110:Slc18a2	UTSW	19	59,282,326 (GRCm39)	missense	probably benign	0.01
R9230:Slc18a2	UTSW	19	59,261,647 (GRCm39)	missense	probably benign	0.04
R9368:Slc18a2	UTSW	19	59,262,791 (GRCm39)	missense	probably benign	0.22

Posted On

2015-12-18