|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 18 (vesicular monoamine), member 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1972 (G1)|
|Chromosomal Location||59260878-59296012 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 59274653 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 294 (D294G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026084 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026084]|
|Predicted Effect||possibly damaging
AA Change: D294G
PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D294G
|Meta Mutation Damage Score||0.9658|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
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||
|Other mutations in Slc18a2||
(F):5'- GGCCACATCTGCTTTCCAAG -3'
(R):5'- GCTAGCAAGCCCTTCCAGAAAG -3'
(F):5'- ACATCTGCTTTCCAAGAAGGGTC -3'
(R):5'- GCCCTTCCAGAAAGTTCAAGG -3'