Incidental Mutation 'R4675:Slc6a3'
ID 349524
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 041930-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4675 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73692936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 185 (N185K)
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
AlphaFold Q61327
Predicted Effect probably damaging
Transcript: ENSMUST00000022100
AA Change: N185K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: N185K

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Meta Mutation Damage Score 0.9040 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (89/94)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C A 17: 36,203,820 (GRCm39) K291N probably damaging Het
Adgra1 A G 7: 139,456,102 (GRCm39) T577A probably damaging Het
Akip1 T A 7: 109,308,188 (GRCm39) I152N possibly damaging Het
Armc9 A G 1: 86,130,240 (GRCm39) Y8C probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Atp2a3 A T 11: 72,872,623 (GRCm39) T724S probably damaging Het
Bmp1 C A 14: 70,730,284 (GRCm39) R416L probably damaging Het
Bmt2 G T 6: 13,663,300 (GRCm39) A66E probably benign Het
Bscl2 A T 19: 8,825,523 (GRCm39) D403V possibly damaging Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Cdhr18 A T 14: 13,856,724 (GRCm38) D462E probably benign Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Cntnap4 A G 8: 113,512,468 (GRCm39) Y610C probably damaging Het
Col11a2 T C 17: 34,283,267 (GRCm39) probably null Het
Col17a1 T C 19: 47,651,497 (GRCm39) probably null Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Dgkz T A 2: 91,768,691 (GRCm39) K697* probably null Het
Dnah7b T A 1: 46,256,317 (GRCm39) D1873E possibly damaging Het
Dst G A 1: 34,314,784 (GRCm39) E6472K possibly damaging Het
Duox2 T C 2: 122,111,414 (GRCm39) D1428G probably damaging Het
Elmod2 T C 8: 84,043,537 (GRCm39) N210S probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fbn2 T A 18: 58,173,265 (GRCm39) N2051I possibly damaging Het
Gabrg2 G A 11: 41,859,650 (GRCm39) H201Y probably damaging Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gjd4 A G 18: 9,280,578 (GRCm39) S167P probably damaging Het
Heatr5a T C 12: 51,924,130 (GRCm39) N2028D probably benign Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Herc1 T C 9: 66,298,740 (GRCm39) S625P probably damaging Het
Ighv1-55 T C 12: 115,172,175 (GRCm39) probably benign Het
Ighv5-8 G A 12: 113,618,777 (GRCm39) S64N probably benign Het
Itga1 G T 13: 115,138,227 (GRCm39) probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Ksr1 G A 11: 78,965,186 (GRCm39) P118S possibly damaging Het
Lat2 T C 5: 134,634,911 (GRCm39) N100S probably damaging Het
Lrit3 T A 3: 129,582,121 (GRCm39) D501V probably damaging Het
Lrrfip1 T A 1: 91,031,042 (GRCm39) probably null Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Med21 T A 6: 146,551,691 (GRCm39) L114H probably damaging Het
Mfap4 A T 11: 61,376,336 (GRCm39) probably benign Het
Mpdz G A 4: 81,302,049 (GRCm39) R233W probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncapd3 T C 9: 27,006,038 (GRCm39) probably benign Het
Neto2 T G 8: 86,396,333 (GRCm39) H104P probably damaging Het
Nr1h2 T C 7: 44,201,979 (GRCm39) T36A possibly damaging Het
Nudt16l2 T C 9: 105,021,647 (GRCm39) D133G probably benign Het
Or13a20 A T 7: 140,232,074 (GRCm39) M61L probably damaging Het
Or4a79 T C 2: 89,551,838 (GRCm39) I206V probably benign Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or51g2 A G 7: 102,623,013 (GRCm39) M62T probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5p52 A G 7: 107,502,567 (GRCm39) I214M probably damaging Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Or8b4 T C 9: 37,830,882 (GRCm39) *310R probably null Het
Pcbp3 A G 10: 76,606,869 (GRCm39) L241S possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Podxl G A 6: 31,503,579 (GRCm39) T254M possibly damaging Het
Prr27 A C 5: 87,991,100 (GRCm39) E237D possibly damaging Het
Rdh16 G T 10: 127,637,316 (GRCm39) V84F probably damaging Het
Rnf26 A T 9: 44,023,428 (GRCm39) D273E probably benign Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rpl3l A G 17: 24,952,584 (GRCm39) K239E probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Ryk A G 9: 102,768,415 (GRCm39) D352G possibly damaging Het
Setd1b T A 5: 123,299,061 (GRCm39) probably benign Het
Sh2b1 G A 7: 126,070,618 (GRCm39) A361V possibly damaging Het
Slc35f3 A T 8: 127,047,935 (GRCm39) K92* probably null Het
Slc39a10 A G 1: 46,857,144 (GRCm39) probably benign Het
Slc47a1 G A 11: 61,253,857 (GRCm39) T194I probably benign Het
Stag1 T C 9: 100,730,758 (GRCm39) V391A probably damaging Het
Syne2 A C 12: 75,996,075 (GRCm39) N2206T probably damaging Het
Tbc1d23 C A 16: 57,003,325 (GRCm39) R481I possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tfam A G 10: 71,069,225 (GRCm39) S166P probably benign Het
Tmem63a A G 1: 180,784,056 (GRCm39) H212R probably benign Het
Txndc11 T A 16: 10,902,745 (GRCm39) Q634L possibly damaging Het
Usp31 T C 7: 121,306,548 (GRCm39) probably benign Het
Vmn1r204 A T 13: 22,740,962 (GRCm39) M198L probably damaging Het
Vmn2r17 A T 5: 109,575,049 (GRCm39) T119S probably benign Het
Vsig1 A G X: 139,833,861 (GRCm39) D227G probably damaging Het
Zfhx2 G A 14: 55,304,678 (GRCm39) P1102L probably benign Het
Zfp715 T C 7: 42,949,444 (GRCm39) Q172R probably benign Het
Zfp872 A G 9: 22,108,701 (GRCm39) D53G probably damaging Het
Zswim8 G A 14: 20,764,681 (GRCm39) D684N 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
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
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'- AAAGGGGCATGCTGCTGATG -3'
(R):5'- TAGGGACTTGTTCAGCACAG -3'

Sequencing Primer
(F):5'- GCTGCTGATGCTGGCTCTAC -3'
(R):5'- GTTCAGCACAGCTTTGAGAAC -3'
Posted On 2015-10-08