Incidental Mutation 'IGL01956:Slc18a2'
ID181111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc18a2
Ensembl Gene ENSMUSG00000025094
Gene Namesolute carrier family 18 (vesicular monoamine), member 2
SynonymsVmat2, 1110037L13Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01956
Quality Score
Status
Chromosome19
Chromosomal Location59260878-59296012 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 59287176 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026084]
Predicted Effect probably benign
Transcript: ENSMUST00000026084
SMART Domains Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094

DomainStartEndE-ValueType
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik A G 18: 12,189,350 N620S probably damaging Het
Adamts3 C T 5: 89,677,911 G1022D probably damaging Het
Adgrv1 T C 13: 81,446,430 H4155R possibly damaging Het
Akna A T 4: 63,379,290 D842E probably benign Het
Cacng5 T C 11: 107,882,909 E88G possibly damaging Het
Ccdc36 T C 9: 108,417,319 probably benign Het
Fbxw18 G A 9: 109,693,357 P148L probably damaging Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Myo5c A G 9: 75,242,876 probably null Het
Nudcd1 A G 15: 44,400,216 Y277H probably damaging Het
Nvl A G 1: 181,134,944 S154P probably benign Het
Olfr776 T A 10: 129,261,042 I27N possibly damaging Het
Pah G A 10: 87,538,199 E76K probably benign Het
Peli1 T A 11: 21,148,501 I412N probably damaging Het
Stx1a T C 5: 135,037,469 probably benign Het
Syne2 G A 12: 76,097,974 D1566N probably damaging Het
Syt7 G T 19: 10,443,391 E433D probably benign Het
Tas2r102 G A 6: 132,762,453 W108* probably null Het
Trappc11 A G 8: 47,528,001 V135A possibly damaging Het
Unk T C 11: 116,056,334 S598P probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp729a A T 13: 67,621,686 H141Q probably damaging Het
Other mutations in Slc18a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Slc18a2 APN 19 59284384 missense probably benign 0.02
IGL02220:Slc18a2 APN 19 59276556 missense probably benign 0.01
IGL02389:Slc18a2 APN 19 59263301 splice site probably benign
IGL02795:Slc18a2 APN 19 59274490 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
Posted On2014-05-07