Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Slc18a2'

485347

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

044252-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59249328-59284444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59282310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 506 (Y506H)

Ref Sequence

ENSEMBL: ENSMUSP00000026084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026084] [ENSMUST00000099274]

AlphaFold

Q8BRU6

Predicted Effect

probably benign
Transcript: ENSMUST00000026084
AA Change: Y506H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094
AA Change: Y506H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099274

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
PDZ	374	448	2.02e-10	SMART
low complexity region	582	596	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
C1	834	884	8.31e-8	SMART
coiled coil region	1021	1057	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,210,849 (GRCm39)	I290T	possibly damaging	Het
Apeh	T	A	9: 107,963,638 (GRCm39)	D559V	probably damaging	Het
Aspm	T	A	1: 139,405,197 (GRCm39)	Y1361*	probably null	Het
Atad5	G	T	11: 80,002,398 (GRCm39)		probably null	Het
Ccr4	C	T	9: 114,325,561 (GRCm39)		probably null	Het
Clasrp	G	A	7: 19,320,393 (GRCm39)		probably benign	Het
Cldn23	A	G	8: 36,292,705 (GRCm39)	M261T	probably benign	Het
Cmya5	T	C	13: 93,230,739 (GRCm39)	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,773,197 (GRCm39)	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Dnah9	A	G	11: 65,881,342 (GRCm39)	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,180,165 (GRCm39)	Y196F	probably benign	Het
Exoc1	T	C	5: 76,685,626 (GRCm39)	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Frs3	C	T	17: 48,013,596 (GRCm39)	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,644,260 (GRCm39)	T323K	probably benign	Het
Golgb1	T	C	16: 36,733,227 (GRCm39)	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,812,681 (GRCm39)	C11*	probably null	Het
Ighv3-3	G	C	12: 114,160,080 (GRCm39)	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,312,853 (GRCm39)	H107Y	probably benign	Het
Kcnj16	A	G	11: 110,916,403 (GRCm39)	E355G	probably benign	Het
Lig4	C	T	8: 10,022,872 (GRCm39)	G303S	probably damaging	Het
Map1b	A	C	13: 99,562,381 (GRCm39)	V2443G	unknown	Het
Map3k6	T	C	4: 132,974,442 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,276,688 (GRCm39)	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,435,772 (GRCm39)	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,897 (GRCm39)	F10I	possibly damaging	Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Mtmr3	T	C	11: 4,437,673 (GRCm39)	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211 (GRCm39)	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,361,427 (GRCm39)		probably benign	Het
Or5i1	T	C	2: 87,613,192 (GRCm39)	F103L	probably damaging	Het
Or5p70	T	C	7: 107,994,491 (GRCm39)	S55P	probably damaging	Het
Or7g34	T	C	9: 19,478,318 (GRCm39)	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,785,828 (GRCm39)	V134G	possibly damaging	Het
Pax3	T	C	1: 78,108,984 (GRCm39)	T225A	probably damaging	Het
Pbx1	C	A	1: 168,011,134 (GRCm39)	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,279,335 (GRCm39)	K772*	probably null	Het
Pcsk4	A	T	10: 80,161,651 (GRCm39)	Y163*	probably null	Het
Plcd3	A	G	11: 102,971,470 (GRCm39)	V58A	probably damaging	Het
Plek2	T	A	12: 78,946,867 (GRCm39)	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,169,721 (GRCm39)	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,284,768 (GRCm39)	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022 (GRCm39)		probably benign	Het
Psme4	T	A	11: 30,815,567 (GRCm39)	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,830,313 (GRCm39)	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Serpina3b	A	T	12: 104,100,428 (GRCm39)	T337S	probably benign	Het
Slc9a9	A	G	9: 94,818,482 (GRCm39)	Y292C	probably benign	Het
Spta1	T	C	1: 174,052,086 (GRCm39)	V1840A	probably benign	Het
Ssb	T	C	2: 69,701,552 (GRCm39)	*416Q	probably null	Het
Strada	A	G	11: 106,059,262 (GRCm39)	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,799,489 (GRCm39)	D225V	probably damaging	Het
Tgm4	T	C	9: 122,885,600 (GRCm39)	F381L	probably benign	Het
Tmem120b	T	A	5: 123,253,207 (GRCm39)	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,812,868 (GRCm39)	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,747,671 (GRCm39)	L201M	possibly damaging	Het
Ttn	C	A	2: 76,804,694 (GRCm39)		probably null	Het
Tubb2a	T	C	13: 34,259,326 (GRCm39)	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,963,099 (GRCm39)	D258G	probably damaging	Het
Vmn2r121	T	C	X: 123,043,272 (GRCm39)	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,306,907 (GRCm39)	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,375,361 (GRCm39)		probably null	Het
Zfp273	A	G	13: 67,970,466 (GRCm39)	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp825	A	G	13: 74,628,772 (GRCm39)	L248P	probably 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
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
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
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'- TGAAACTCTCCACTGCGTG -3'
(R):5'- TGTTGGCAGTCGATCATAACCATG -3'

Sequencing Primer
(F):5'- CCTTCAGGGTCAAGACATTCGATG -3'
(R):5'- GCAGTCGATCATAACCATGAAAAAG -3'

Posted On

2017-08-16