|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 6 (neurotransmitter transporter, dopamine), member 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5243 (G1)|
|Chromosomal Location||73536747-73578672 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 73571451 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 533 (Y533C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022100 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022100]|
|Predicted Effect||possibly damaging
AA Change: Y533C
PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: Y533C
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||95% (62/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit dwarfism, hyperactivity (especially in a novel environment), 5-fold higher extracellular dopamine levels, impaired spatial cognitive function, anterior pituitary hypoplasia, and failure to lactate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc6a3||
(F):5'- ACCATGTGTGTAGATATGCCATTG -3'
(R):5'- CGCCACCTGAACCATTAGAATG -3'
(F):5'- AGATATGCCATTGGTGCCTCAG -3'
(R):5'- CCATTAGAATGATGAACCCCTTGAG -3'