Incidental Mutation 'R4368:Slc6a3'
ID 325865
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 041115-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4368 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 73709031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 318 (C318*)
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
AlphaFold Q61327
Predicted Effect probably null
Transcript: ENSMUST00000022100
AA Change: C318*
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: C318*

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (46/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A G 3: 59,754,199 (GRCm39) noncoding transcript Het
Aadacl2fm2 T C 3: 59,659,387 (GRCm39) F280S probably damaging Het
Adamts7 G A 9: 90,077,904 (GRCm39) probably null Het
Adgrv1 A C 13: 81,641,029 (GRCm39) S3335R unknown Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bltp1 C T 3: 37,042,296 (GRCm39) Q2761* probably null Het
Cdh19 G A 1: 110,817,442 (GRCm39) Q767* probably null Het
Cep120 G A 18: 53,818,957 (GRCm39) probably null Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Efr3a T A 15: 65,738,629 (GRCm39) F753I possibly damaging Het
Hspb7 A T 4: 141,151,329 (GRCm39) E157V probably damaging Het
Irx6 A G 8: 93,405,029 (GRCm39) E299G probably damaging Het
Jhy T A 9: 40,828,440 (GRCm39) N489Y possibly damaging Het
Klhl22 T C 16: 17,607,137 (GRCm39) V481A possibly damaging Het
Mapk13 A G 17: 28,996,539 (GRCm39) probably null Het
Meis1 A T 11: 18,960,656 (GRCm39) probably benign Het
Nlrp14 A G 7: 106,797,012 (GRCm39) K301E probably benign Het
Nol10 T C 12: 17,429,293 (GRCm39) Y340H probably damaging Het
Or2k2 T C 4: 58,785,153 (GRCm39) S190G probably benign Het
Paqr3 T C 5: 97,256,150 (GRCm39) S75G probably damaging Het
Pdgfa T C 5: 138,972,061 (GRCm39) T113A probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Psph T G 5: 129,848,654 (GRCm39) K9T probably benign Het
Ptpn21 T C 12: 98,644,852 (GRCm39) Y1163C probably damaging Het
Scaf8 T C 17: 3,221,470 (GRCm39) L319P unknown Het
Slc4a7 C T 14: 14,733,775 (GRCm38) R62W probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Taf1c A C 8: 120,326,055 (GRCm39) S602R possibly damaging Het
Tiam2 A G 17: 3,464,958 (GRCm39) D229G probably benign Het
Tor1a A G 2: 30,857,382 (GRCm39) probably benign Het
Trim45 T C 3: 100,830,502 (GRCm39) I92T probably damaging Het
Ttll8 G A 15: 88,798,384 (GRCm39) P784S possibly damaging Het
Tubg1 G T 11: 101,016,190 (GRCm39) probably null Het
Vmn1r178 A T 7: 23,593,447 (GRCm39) N92I probably damaging Het
Vmn2r87 A G 10: 130,315,676 (GRCm39) V130A probably benign Het
Wdr46 A G 17: 34,160,120 (GRCm39) probably benign Het
Yme1l1 A G 2: 23,050,223 (GRCm39) H18R possibly damaging Het
Zfp263 T A 16: 3,562,770 (GRCm39) probably benign Het
Zfp534 T C 4: 147,760,015 (GRCm39) D218G probably benign Het
Zscan12 T C 13: 21,553,553 (GRCm39) V459A 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
R0125:Slc6a3 UTSW 13 73,718,098 (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
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'- AGTACCTACTGCCACCAAGCTG -3'
(R):5'- GCTCAGAGGCCTCATGATTTTC -3'

Sequencing Primer
(F):5'- AGCTGAGAACTTTTGCAGCC -3'
(R):5'- AGAGGCCTCATGATTTTCCTCTGG -3'
Posted On 2015-07-06