Incidental Mutation 'R0125:Slc6a3'
ID 21319
Institutional Source Beutler Lab
Gene Symbol Slc6a3
Ensembl Gene ENSMUSG00000021609
Gene Name solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Synonyms DAT, Dat1
MMRRC Submission 038410-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0125 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 73718098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
AlphaFold Q61327
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: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 98% (96/98)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T C 14: 70,394,096 (GRCm39) probably benign Het
Adam23 T C 1: 63,573,515 (GRCm39) L261P probably benign Het
Adgra3 G A 5: 50,159,194 (GRCm39) probably benign Het
Agtr1b A G 3: 20,369,704 (GRCm39) F301L probably benign Het
Ahnak2 G A 12: 112,748,776 (GRCm39) T357I probably benign Het
Aldh1a7 T C 19: 20,704,430 (GRCm39) probably benign Het
Apoh A T 11: 108,302,899 (GRCm39) N288I probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Atp6v0a1 A G 11: 100,929,677 (GRCm39) probably null Het
Axl A T 7: 25,486,368 (GRCm39) M112K probably benign Het
Bnc2 A C 4: 84,211,169 (GRCm39) I425S probably damaging Het
Ccn4 T C 15: 66,789,194 (GRCm39) S227P possibly damaging Het
Cdc42bpa C T 1: 179,788,763 (GRCm39) T30M probably damaging Het
Cebpz C A 17: 79,227,317 (GRCm39) R1051M possibly damaging Het
Ces1d A C 8: 93,901,810 (GRCm39) probably benign Het
Chd1l T C 3: 97,494,465 (GRCm39) N405S probably benign Het
Chodl G T 16: 78,738,311 (GRCm39) G93V probably damaging Het
Cpeb2 C T 5: 43,395,743 (GRCm39) probably benign Het
Crebbp A G 16: 3,935,105 (GRCm39) probably benign Het
Crybb3 T C 5: 113,227,675 (GRCm39) T49A possibly damaging Het
Ctps1 A G 4: 120,418,722 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,551,497 (GRCm39) Y240H probably damaging Het
Cyp2d11 A C 15: 82,273,422 (GRCm39) V483G probably benign Het
Dennd2b T C 7: 109,155,545 (GRCm39) K402E probably benign Het
Dnah14 A T 1: 181,579,628 (GRCm39) N3054Y probably damaging Het
Dspp A C 5: 104,325,905 (GRCm39) D756A unknown Het
Dst T C 1: 34,309,984 (GRCm39) S1553P probably damaging Het
Elp4 A G 2: 105,622,559 (GRCm39) probably null Het
Eml6 G T 11: 29,832,088 (GRCm39) T194K probably benign Het
Evi5 A G 5: 107,943,638 (GRCm39) I569T probably benign Het
Fancm C T 12: 65,168,730 (GRCm39) P1698S possibly damaging Het
Fhdc1 T C 3: 84,352,852 (GRCm39) D791G probably benign Het
Frem1 A G 4: 82,930,188 (GRCm39) Y253H probably damaging Het
Gpn3 A G 5: 122,519,481 (GRCm39) Y196C probably benign Het
Hcls1 A G 16: 36,782,525 (GRCm39) D398G probably benign Het
Hydin T C 8: 111,189,163 (GRCm39) V1189A probably benign Het
Itgb3 G A 11: 104,534,789 (GRCm39) D549N probably damaging Het
Itpr2 A G 6: 146,141,951 (GRCm39) F1697S probably benign Het
Klk1b11 A G 7: 43,648,475 (GRCm39) T161A probably benign Het
Kntc1 G A 5: 123,903,120 (GRCm39) probably benign Het
Map3k19 A T 1: 127,750,837 (GRCm39) F838Y probably benign Het
Map6 T A 7: 98,985,187 (GRCm39) probably null Het
Mcrs1 A G 15: 99,142,608 (GRCm39) probably benign Het
Mdn1 A T 4: 32,729,956 (GRCm39) Y2766F probably damaging Het
Med23 C T 10: 24,776,686 (GRCm39) H739Y probably damaging Het
Mmp17 T A 5: 129,671,646 (GRCm39) D65E possibly damaging Het
Mmp9 T A 2: 164,793,177 (GRCm39) L442Q probably damaging Het
Myo19 T C 11: 84,779,001 (GRCm39) probably benign Het
Nedd1 A C 10: 92,527,791 (GRCm39) S468A possibly damaging Het
Niban2 T A 2: 32,813,833 (GRCm39) V682D probably benign Het
Nlrp4d A C 7: 10,116,316 (GRCm39) V152G probably damaging Het
Nxf1 T A 19: 8,740,170 (GRCm39) D112E probably benign Het
Oas1h A T 5: 121,000,626 (GRCm39) K79* probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or5p69 A G 7: 107,967,576 (GRCm39) Y293C probably damaging Het
Or8b101 A G 9: 38,020,815 (GRCm39) T278A probably benign Het
Or8b1b T A 9: 38,375,757 (GRCm39) L140* probably null Het
Pck1 G A 2: 172,997,874 (GRCm39) W314* probably null Het
Pla2g15 T C 8: 106,889,756 (GRCm39) Y343H probably benign Het
Plcb3 T C 19: 6,936,276 (GRCm39) E749G probably damaging Het
Plgrkt A G 19: 29,328,442 (GRCm39) probably null Het
Pprc1 A G 19: 46,057,951 (GRCm39) probably benign Het
Prkdc A T 16: 15,516,871 (GRCm39) I1082F probably damaging Het
Rapgef6 T A 11: 54,516,701 (GRCm39) Y172* probably null Het
Ros1 G T 10: 52,001,885 (GRCm39) A1079D probably benign Het
Sap30 T C 8: 57,938,545 (GRCm39) E147G probably null Het
Sell T C 1: 163,899,674 (GRCm39) probably benign Het
Senp1 A T 15: 97,946,112 (GRCm39) D544E probably damaging Het
Shpk G A 11: 73,105,048 (GRCm39) probably benign Het
Slc35b1 A T 11: 95,277,353 (GRCm39) T74S probably benign Het
Slf1 T C 13: 77,191,864 (GRCm39) N990S probably benign Het
Smgc A G 15: 91,738,746 (GRCm39) probably benign Het
Snx19 T A 9: 30,351,515 (GRCm39) V861D probably damaging Het
Sprr2e C T 3: 92,260,285 (GRCm39) P39S unknown Het
Sstr2 T A 11: 113,515,303 (GRCm39) M74K probably damaging Het
Svep1 T C 4: 58,099,937 (GRCm39) probably benign Het
Tas2r143 A G 6: 42,377,889 (GRCm39) I240V probably benign Het
Tbrg1 T C 9: 37,563,937 (GRCm39) I233V probably benign Het
Tecpr1 G T 5: 144,134,717 (GRCm39) D1055E probably damaging Het
Thap2 A T 10: 115,212,277 (GRCm39) probably null Het
Tinagl1 A G 4: 130,060,101 (GRCm39) Y388H probably damaging Het
Ttn T A 2: 76,585,896 (GRCm39) Y21945F probably damaging Het
Ugt2b1 A T 5: 87,073,961 (GRCm39) W133R probably benign Het
Usp24 C T 4: 106,254,496 (GRCm39) P1491L possibly damaging Het
Utp15 A G 13: 98,387,390 (GRCm39) S395P possibly damaging Het
Vav1 T A 17: 57,606,847 (GRCm39) L254Q probably damaging Het
Vmn2r104 T C 17: 20,250,069 (GRCm39) Y734C probably damaging Het
Vps8 T A 16: 21,288,904 (GRCm39) V421E probably benign Het
Xkr7 G T 2: 152,874,346 (GRCm39) A138S probably benign Het
Other mutations in Slc6a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc6a3 APN 13 73,692,860 (GRCm39) missense probably damaging 1.00
IGL01524:Slc6a3 APN 13 73,686,668 (GRCm39) missense probably benign 0.01
IGL02015:Slc6a3 APN 13 73,692,833 (GRCm39) missense possibly damaging 0.60
IGL03008:Slc6a3 APN 13 73,706,404 (GRCm39) critical splice donor site probably null
IGL03029:Slc6a3 APN 13 73,686,816 (GRCm39) missense probably damaging 1.00
IGL03064:Slc6a3 APN 13 73,719,585 (GRCm39) missense probably damaging 0.99
IGL03272:Slc6a3 APN 13 73,689,048 (GRCm39) missense probably damaging 0.98
IGL03294:Slc6a3 APN 13 73,705,300 (GRCm39) critical splice donor site probably null
IGL03345:Slc6a3 APN 13 73,719,633 (GRCm39) missense probably benign
IGL03410:Slc6a3 APN 13 73,686,776 (GRCm39) missense probably benign 0.03
disney UTSW 13 73,693,003 (GRCm39) missense probably benign
dopey UTSW 13 73,709,078 (GRCm39) missense probably damaging 1.00
Dopey2 UTSW 13 73,692,936 (GRCm39) missense probably damaging 1.00
Stiff UTSW 13 73,705,169 (GRCm39) missense possibly damaging 0.85
PIT4382001:Slc6a3 UTSW 13 73,719,642 (GRCm39) missense probably benign 0.35
R0024:Slc6a3 UTSW 13 73,688,956 (GRCm39) splice site probably benign
R0180:Slc6a3 UTSW 13 73,710,455 (GRCm39) missense probably damaging 1.00
R0288:Slc6a3 UTSW 13 73,709,047 (GRCm39) missense probably damaging 1.00
R0322:Slc6a3 UTSW 13 73,709,045 (GRCm39) missense possibly damaging 0.61
R0349:Slc6a3 UTSW 13 73,715,676 (GRCm39) missense probably damaging 1.00
R0411:Slc6a3 UTSW 13 73,705,169 (GRCm39) missense possibly damaging 0.85
R0594:Slc6a3 UTSW 13 73,686,761 (GRCm39) missense probably damaging 0.99
R0680:Slc6a3 UTSW 13 73,686,846 (GRCm39) missense probably damaging 1.00
R1099:Slc6a3 UTSW 13 73,715,760 (GRCm39) missense probably benign 0.21
R1109:Slc6a3 UTSW 13 73,705,199 (GRCm39) missense probably benign 0.00
R1791:Slc6a3 UTSW 13 73,714,411 (GRCm39) missense possibly damaging 0.82
R3916:Slc6a3 UTSW 13 73,710,427 (GRCm39) missense probably benign 0.00
R4279:Slc6a3 UTSW 13 73,692,953 (GRCm39) missense possibly damaging 0.90
R4368:Slc6a3 UTSW 13 73,709,031 (GRCm39) nonsense probably null
R4520:Slc6a3 UTSW 13 73,688,975 (GRCm39) missense possibly damaging 0.95
R4666:Slc6a3 UTSW 13 73,686,700 (GRCm39) missense possibly damaging 0.47
R4675:Slc6a3 UTSW 13 73,692,936 (GRCm39) missense probably damaging 1.00
R4716:Slc6a3 UTSW 13 73,705,195 (GRCm39) missense probably benign 0.04
R5243:Slc6a3 UTSW 13 73,719,570 (GRCm39) missense possibly damaging 0.61
R5355:Slc6a3 UTSW 13 73,709,078 (GRCm39) missense probably damaging 1.00
R5681:Slc6a3 UTSW 13 73,686,854 (GRCm39) missense probably damaging 0.99
R5737:Slc6a3 UTSW 13 73,692,923 (GRCm39) missense probably damaging 0.99
R6142:Slc6a3 UTSW 13 73,692,902 (GRCm39) missense probably benign 0.00
R6471:Slc6a3 UTSW 13 73,693,003 (GRCm39) missense probably benign
R7168:Slc6a3 UTSW 13 73,719,591 (GRCm39) missense probably benign 0.00
R7403:Slc6a3 UTSW 13 73,710,546 (GRCm39) critical splice donor site probably null
R8282:Slc6a3 UTSW 13 73,705,200 (GRCm39) missense probably benign 0.01
R8359:Slc6a3 UTSW 13 73,693,002 (GRCm39) missense probably benign
R8446:Slc6a3 UTSW 13 73,719,674 (GRCm39) missense possibly damaging 0.67
R8979:Slc6a3 UTSW 13 73,715,720 (GRCm39) missense probably benign 0.20
R9051:Slc6a3 UTSW 13 73,718,031 (GRCm39) nonsense probably null
R9377:Slc6a3 UTSW 13 73,692,966 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TATATGACCTGGTCCCACAGCCAC -3'
(R):5'- CACTGCTAACTACTGCATGGAGCC -3'

Sequencing Primer
(F):5'- GTCCCACAGCCACCTCTTC -3'
(R):5'- tgggaggcagaggcagg -3'
Posted On 2013-04-11