Mutagenetix > Incidental Mutation

Incidental Mutation 'R3508:Slc18a2'

267501

Institutional Source

Beutler Lab

Gene Symbol

Slc18a2

Ensembl Gene

ENSMUSG00000025094

Gene Name

solute carrier family 18 (vesicular monoamine), member 2

Synonyms

Vmat2, 1110037L13Rik

MMRRC Submission

040664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59249328-59284444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59261989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 215 (T215A)

Ref Sequence

ENSEMBL: ENSMUSP00000026084 (fasta)

Gene Model

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

AlphaFold

Q8BRU6

Predicted Effect

probably benign
Transcript: ENSMUST00000026084
AA Change: T215A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094
AA Change: T215A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,953,991 (GRCm39)	F816L	probably benign	Het
Adgrl3	C	A	5: 81,872,103 (GRCm39)	N932K	probably damaging	Het
Apol8	T	C	15: 77,633,643 (GRCm39)	E311G	probably damaging	Het
Atad2b	G	A	12: 5,000,595 (GRCm39)		probably null	Het
Carmil1	A	G	13: 24,203,659 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,217,576 (GRCm39)	S332P	possibly damaging	Het
Cep162	A	G	9: 87,114,030 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,721,286 (GRCm39)	S2482C	unknown	Het
Cnpy1	T	C	5: 28,412,365 (GRCm39)	E107G	probably damaging	Het
Crtac1	C	T	19: 42,293,180 (GRCm39)	V310I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,789,402 (GRCm39)	I706T	probably damaging	Het
F12	T	C	13: 55,568,872 (GRCm39)	T297A	probably benign	Het
Fanci	A	G	7: 79,083,220 (GRCm39)	I736V	probably benign	Het
Fbn1	T	C	2: 125,148,247 (GRCm39)	N2667S	probably benign	Het
Flt4	T	C	11: 49,524,941 (GRCm39)	S596P	probably damaging	Het
Fndc1	G	A	17: 7,983,940 (GRCm39)	R1329*	probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
H2-M10.1	T	G	17: 36,636,506 (GRCm39)	R99S	possibly damaging	Het
Homer3	T	A	8: 70,744,005 (GRCm39)	V243D	probably benign	Het
Hspa14	A	G	2: 3,492,045 (GRCm39)	S437P	probably damaging	Het
Inpp1	A	T	1: 52,838,550 (GRCm39)	I33N	probably damaging	Het
Ipo5	T	A	14: 121,176,956 (GRCm39)	Y714N	probably damaging	Het
Kif27	T	C	13: 58,461,026 (GRCm39)	E898G	possibly damaging	Het
Klhdc7b	T	A	15: 89,271,095 (GRCm39)	M1K	probably null	Het
Krt87	A	G	15: 101,386,039 (GRCm39)	Y241H	probably benign	Het
Mfsd4b1	A	G	10: 39,878,715 (GRCm39)	I394T	probably benign	Het
Micall1	A	G	15: 79,006,965 (GRCm39)	D264G	probably damaging	Het
Mms22l	T	G	4: 24,586,224 (GRCm39)	D905E	probably benign	Het
Musk	A	G	4: 58,327,347 (GRCm39)	D217G	probably damaging	Het
Napb	T	C	2: 148,540,880 (GRCm39)	T236A	probably benign	Het
Nbn	T	A	4: 15,962,387 (GRCm39)	D38E	probably damaging	Het
Ncaph	T	C	2: 126,969,113 (GRCm39)	N87D	probably benign	Het
Or4a78	A	G	2: 89,497,816 (GRCm39)	V138A	probably benign	Het
Pcdhb13	T	A	18: 37,576,204 (GRCm39)	V194E	probably damaging	Het
Pck1	T	C	2: 173,000,177 (GRCm39)	V536A	possibly damaging	Het
Pld5	C	T	1: 175,821,603 (GRCm39)	G188S	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Pnkd	A	G	1: 74,389,793 (GRCm39)	T306A	probably benign	Het
Ppm1k	T	C	6: 57,491,975 (GRCm39)	E279G	probably damaging	Het
Ppm1l	G	T	3: 69,456,813 (GRCm39)	K243N	possibly damaging	Het
Ppp1r13b	T	C	12: 111,838,801 (GRCm39)	T26A	probably damaging	Het
Rtel1	T	C	2: 180,964,202 (GRCm39)	V67A	probably benign	Het
Rxfp4	T	C	3: 88,559,899 (GRCm39)	E184G	probably damaging	Het
Scp2d1	A	G	2: 144,665,918 (GRCm39)	I86V	probably benign	Het
Sec16a	G	T	2: 26,315,862 (GRCm39)	P1718Q	probably damaging	Het
Sgcg	T	A	14: 61,459,195 (GRCm39)	T245S	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sox17	G	T	1: 4,562,378 (GRCm39)	P146Q	probably damaging	Het
Spata31d1e	A	T	13: 59,890,319 (GRCm39)	Y500*	probably null	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Sybu	T	A	15: 44,536,478 (GRCm39)	E616V	probably damaging	Het
Tk2	C	T	8: 104,957,825 (GRCm39)	V174I	probably benign	Het
Tmc5	G	A	7: 118,244,618 (GRCm39)	V499I	probably benign	Het
Tonsl	T	C	15: 76,523,956 (GRCm39)	T15A	probably benign	Het
Ttll12	A	G	15: 83,464,831 (GRCm39)	I448T	probably damaging	Het
Ttn	A	G	2: 76,584,101 (GRCm39)	S22336P	probably damaging	Het
Ubap1	C	A	4: 41,379,163 (GRCm39)	H126N	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vmn2r84	T	C	10: 130,226,777 (GRCm39)	N354D	probably damaging	Het
Vpreb3	A	C	10: 75,785,037 (GRCm39)	H45P	probably benign	Het
Zc3h13	T	A	14: 75,546,380 (GRCm39)	Y160*	probably null	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
IGL02795:Slc18a2	APN	19	59,262,922 (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
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

Predicted Primers

PCR Primer
(F):5'- TACTGATGCAGGGACCAGAG -3'
(R):5'- TTTCCCAAAAGCTCCATGGG -3'

Sequencing Primer
(F):5'- TGCAGGGACCAGAGGTAGATG -3'
(R):5'- CAGAGAGGAGGGCTGGATGTC -3'

Posted On

2015-02-18