Incidental Mutation 'R4520:Slc6a3'
ID 334193
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 041763-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4520 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73688975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 100 (V100M)
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
AlphaFold Q61327
Predicted Effect possibly damaging
Transcript: ENSMUST00000022100
AA Change: V100M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: V100M

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,776,027 (GRCm39) T1739A probably damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cel C T 2: 28,447,980 (GRCm39) V349M probably benign Het
Cspp1 A G 1: 10,204,452 (GRCm39) T1127A probably benign Het
Cyp2b10 T C 7: 25,610,982 (GRCm39) V113A probably benign Het
Cyp2c50 A G 19: 40,079,133 (GRCm39) T159A probably benign Het
Degs1 T C 1: 182,104,373 (GRCm39) D304G possibly damaging Het
Esr2 G A 12: 76,214,323 (GRCm39) P43S possibly damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm5444 A G 13: 4,884,225 (GRCm39) noncoding transcript Het
Golga3 T A 5: 110,351,617 (GRCm39) L790* probably null Het
Gtpbp6 T C 5: 110,255,725 (GRCm39) T105A probably benign Het
Ido2 T C 8: 25,066,194 (GRCm39) E24G probably damaging Het
Ihh T A 1: 74,990,109 (GRCm39) I89F probably damaging Het
Krt13 A G 11: 100,010,174 (GRCm39) M269T probably damaging Het
Marf1 T C 16: 13,950,530 (GRCm39) H952R probably damaging Het
Mga T A 2: 119,778,579 (GRCm39) F2041L possibly damaging Het
Msmo1 A C 8: 65,173,557 (GRCm39) probably benign Het
Mterf1a A G 5: 3,940,992 (GRCm39) V292A probably damaging Het
Naxe A G 3: 87,965,289 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or51h5 A T 7: 102,577,764 (GRCm39) I310F probably benign Het
Or56b1 T A 7: 104,285,376 (GRCm39) V165E probably damaging Het
Or8h7 T C 2: 86,721,363 (GRCm39) D52G probably benign Het
Otog T A 7: 45,890,477 (GRCm39) probably benign Het
Pigo A T 4: 43,020,301 (GRCm39) H880Q probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Pole T A 5: 110,445,790 (GRCm39) D555E probably damaging Het
Prkag2 A G 5: 25,071,169 (GRCm39) V403A probably damaging Het
Psg28 T A 7: 18,156,826 (GRCm39) M470L probably benign Het
Rpgrip1 A G 14: 52,389,746 (GRCm39) T1138A probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpinb9c T C 13: 33,335,840 (GRCm39) probably null Het
Sh2d6 T C 6: 72,495,936 (GRCm39) N101D possibly damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc13a1 T C 6: 24,134,512 (GRCm39) T124A probably benign Het
Sspn A G 6: 145,907,033 (GRCm39) T79A probably benign Het
Tlr8 C T X: 166,026,171 (GRCm39) R893H probably damaging Het
Tnrc18 T C 5: 142,717,905 (GRCm39) K2183R unknown Het
Trim15 T C 17: 37,177,242 (GRCm39) I139M probably benign Het
Trmt13 A T 3: 116,375,262 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,222,391 (GRCm39) T610S probably damaging Het
Zcchc14 A T 8: 122,335,834 (GRCm39) 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
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'- AGCAAGCAAGGAGGTTCACC -3'
(R):5'- CTGCACATAACGTCATCACCTTG -3'

Sequencing Primer
(F):5'- GGTTCACCACCAATCCAGGATATC -3'
(R):5'- ATAACGTCATCACCTTGTTCTGAAC -3'
Posted On 2015-08-18