Incidental Mutation 'IGL02389:Slc18a2'
ID 291700
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 # IGL02389
Quality Score
Status
Chromosome 19
Chromosomal Location 59249328-59284444 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 59251733 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

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188535
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Slc18a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-04-16