Incidental Mutation 'R0024:Slc6a3'
ID15150
Institutional Source Beutler Lab
Gene Symbol Slc6a3
Ensembl Gene ENSMUSG00000021609
Gene Namesolute carrier family 6 (neurotransmitter transporter, dopamine), member 3
SynonymsDat1, DAT
MMRRC Submission 038319-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0024 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location73536747-73578672 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 73540837 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
Predicted Effect probably benign
Transcript: ENSMUST00000022100
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Coding Region Coverage
  • 1x: 79.2%
  • 3x: 69.7%
  • 10x: 44.0%
  • 20x: 23.5%
Validation Efficiency 95% (75/79)
MGI Phenotype 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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Ahctf1 G A 1: 179,752,436 T2067M probably damaging Het
Akip1 T C 7: 109,704,138 S63P probably benign Het
Ankrd34c G A 9: 89,729,527 P254S possibly damaging Het
Aqp8 T C 7: 123,467,440 I256T probably benign Het
Arnt2 A G 7: 84,284,126 V308A probably benign Het
Astn1 G A 1: 158,684,215 S1209N probably damaging Het
Atf7ip T C 6: 136,599,820 probably benign Het
Bbx T A 16: 50,224,918 M427L probably benign Het
Cadm4 T C 7: 24,502,744 L336P probably benign Het
Camk2d A G 3: 126,797,723 M281V probably benign Het
Dll3 A G 7: 28,300,161 probably benign Het
Dscam G A 16: 96,593,385 R1906* probably null Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Eif2ak3 A G 6: 70,892,356 T676A probably benign Het
Entpd5 T C 12: 84,373,733 M428T probably benign Het
Fry T G 5: 150,380,803 S553A probably benign Het
Gls2 G A 10: 128,199,256 R86H probably damaging Het
Gm14340 T A 2: 180,824,250 noncoding transcript Het
Gm9457 A C 8: 4,813,131 noncoding transcript Het
Hfm1 T C 5: 106,856,924 K1179E probably benign Het
Iqgap1 T C 7: 80,751,939 T473A probably benign Het
Krt34 A T 11: 100,041,037 C119S probably benign Het
Krt6a A G 15: 101,690,715 probably benign Het
Lysmd4 A G 7: 67,226,080 T164A probably benign Het
Mroh2b T A 15: 4,925,627 Y701N probably damaging Het
Pi4ka T C 16: 17,315,535 probably benign Het
Plcb1 A G 2: 135,362,425 S900G probably benign Het
Plxna2 T A 1: 194,643,995 I79N possibly damaging Het
Prpf31 C A 7: 3,636,659 probably null Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rsc1a1 T C 4: 141,685,272 K110E probably benign Het
Sin3a T A 9: 57,118,253 probably benign Het
Slc24a2 T C 4: 87,028,240 probably benign Het
St5 T C 7: 109,524,659 H1131R probably damaging Het
Sugct G A 13: 16,857,869 H433Y probably benign Het
Sycp2l A G 13: 41,141,788 I310M probably damaging Het
Tpm3 C A 3: 90,087,449 probably null Het
Ttc27 T C 17: 74,770,264 F385L possibly damaging Het
Utrn A G 10: 12,406,011 V3301A probably benign Het
Other mutations in Slc6a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc6a3 APN 13 73544741 missense probably damaging 1.00
IGL01524:Slc6a3 APN 13 73538549 missense probably benign 0.01
IGL02015:Slc6a3 APN 13 73544714 missense possibly damaging 0.60
IGL03008:Slc6a3 APN 13 73558285 critical splice donor site probably null
IGL03029:Slc6a3 APN 13 73538697 missense probably damaging 1.00
IGL03064:Slc6a3 APN 13 73571466 missense probably damaging 0.99
IGL03272:Slc6a3 APN 13 73540929 missense probably damaging 0.98
IGL03294:Slc6a3 APN 13 73557181 critical splice donor site probably null
IGL03345:Slc6a3 APN 13 73571514 missense probably benign
IGL03410:Slc6a3 APN 13 73538657 missense probably benign 0.03
disney UTSW 13 73544884 missense probably benign
dopey UTSW 13 73560959 missense probably damaging 1.00
Dopey2 UTSW 13 73544817 missense probably damaging 1.00
Stiff UTSW 13 73557050 missense possibly damaging 0.85
PIT4382001:Slc6a3 UTSW 13 73571523 missense probably benign 0.35
R0125:Slc6a3 UTSW 13 73569979 splice site probably benign
R0180:Slc6a3 UTSW 13 73562336 missense probably damaging 1.00
R0288:Slc6a3 UTSW 13 73560928 missense probably damaging 1.00
R0322:Slc6a3 UTSW 13 73560926 missense possibly damaging 0.61
R0349:Slc6a3 UTSW 13 73567557 missense probably damaging 1.00
R0411:Slc6a3 UTSW 13 73557050 missense possibly damaging 0.85
R0594:Slc6a3 UTSW 13 73538642 missense probably damaging 0.99
R0680:Slc6a3 UTSW 13 73538727 missense probably damaging 1.00
R1099:Slc6a3 UTSW 13 73567641 missense probably benign 0.21
R1109:Slc6a3 UTSW 13 73557080 missense probably benign 0.00
R1791:Slc6a3 UTSW 13 73566292 missense possibly damaging 0.82
R3916:Slc6a3 UTSW 13 73562308 missense probably benign 0.00
R4279:Slc6a3 UTSW 13 73544834 missense possibly damaging 0.90
R4368:Slc6a3 UTSW 13 73560912 nonsense probably null
R4520:Slc6a3 UTSW 13 73540856 missense possibly damaging 0.95
R4666:Slc6a3 UTSW 13 73538581 missense possibly damaging 0.47
R4675:Slc6a3 UTSW 13 73544817 missense probably damaging 1.00
R4716:Slc6a3 UTSW 13 73557076 missense probably benign 0.04
R5243:Slc6a3 UTSW 13 73571451 missense possibly damaging 0.61
R5355:Slc6a3 UTSW 13 73560959 missense probably damaging 1.00
R5681:Slc6a3 UTSW 13 73538735 missense probably damaging 0.99
R5737:Slc6a3 UTSW 13 73544804 missense probably damaging 0.99
R6142:Slc6a3 UTSW 13 73544783 missense probably benign 0.00
R6471:Slc6a3 UTSW 13 73544884 missense probably benign
R7168:Slc6a3 UTSW 13 73571472 missense probably benign 0.00
R7403:Slc6a3 UTSW 13 73562427 critical splice donor site probably null
Posted On2012-12-12