Incidental Mutation 'IGL01343:Slc22a3'
ID 74942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a3
Ensembl Gene ENSMUSG00000023828
Gene Name solute carrier family 22 (organic cation transporter), member 3
Synonyms EMT, Oct3, Orct3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01343
Quality Score
Status
Chromosome 17
Chromosomal Location 12638859-12726591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12644516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 490 (W490R)
Ref Sequence ENSEMBL: ENSMUSP00000024595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024595]
AlphaFold Q9WTW5
Predicted Effect probably damaging
Transcript: ENSMUST00000024595
AA Change: W490R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828
AA Change: W490R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Sugar_tr 105 526 1.2e-28 PFAM
Pfam:MFS_1 144 395 3.3e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to paraquat-induced dopamine neuron neurotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,033,416 (GRCm39) probably benign Het
Adgrf1 T A 17: 43,624,086 (GRCm39) F835L probably null Het
Akp3 G T 1: 87,054,858 (GRCm39) probably benign Het
BC106179 G T 16: 23,043,037 (GRCm39) probably benign Het
Bysl C A 17: 47,912,814 (GRCm39) M325I probably benign Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Crnn A G 3: 93,055,633 (GRCm39) R140G probably benign Het
Cts8 T C 13: 61,397,010 (GRCm39) probably benign Het
Cxcr4 T C 1: 128,517,292 (GRCm39) Y121C probably damaging Het
Ddr2 T C 1: 169,812,150 (GRCm39) T691A probably benign Het
Dhx30 A T 9: 109,915,313 (GRCm39) F782I probably benign Het
Efcab5 C T 11: 77,020,756 (GRCm39) G655D probably damaging Het
Eif2ak4 G A 2: 118,252,570 (GRCm39) V381I probably benign Het
Enpp3 A T 10: 24,681,820 (GRCm39) Y295* probably null Het
Fbxo28 T C 1: 182,144,577 (GRCm39) E329G probably damaging Het
Fcgbpl1 A G 7: 27,850,127 (GRCm39) Q1191R probably benign Het
Fmnl2 T A 2: 53,013,557 (GRCm39) V972D probably damaging Het
Fmr1 A G X: 67,731,901 (GRCm39) D22G probably damaging Het
Fsip2 A G 2: 82,830,163 (GRCm39) T6886A possibly damaging Het
Gadl1 A G 9: 115,903,180 (GRCm39) *503W probably null Het
Gpc6 A T 14: 117,424,224 (GRCm39) K104I possibly damaging Het
Hecw2 T A 1: 53,866,135 (GRCm39) T1509S probably damaging Het
Lonp1 A G 17: 56,922,586 (GRCm39) L680P possibly damaging Het
Lrrc66 A T 5: 73,765,806 (GRCm39) N412K probably damaging Het
Marco C T 1: 120,422,469 (GRCm39) probably null Het
Mdga2 T C 12: 66,769,883 (GRCm39) T206A probably damaging Het
Mogat2 C A 7: 98,881,775 (GRCm39) A54S possibly damaging Het
Myh15 T A 16: 48,976,040 (GRCm39) D1369E probably benign Het
Nckap1 A T 2: 80,350,186 (GRCm39) S840T possibly damaging Het
Ncor1 C T 11: 62,216,312 (GRCm39) probably null Het
Nfrkb C A 9: 31,300,250 (GRCm39) L14I probably damaging Het
Notch1 C A 2: 26,362,917 (GRCm39) A950S probably benign Het
Notch3 T C 17: 32,362,410 (GRCm39) E1405G probably benign Het
Nsd2 C A 5: 34,000,922 (GRCm39) D146E probably damaging Het
Oc90 T C 15: 65,761,440 (GRCm39) T193A probably benign Het
Or7c70 A T 10: 78,683,431 (GRCm39) V106E probably damaging Het
Or8g50 C A 9: 39,649,011 (GRCm39) A300D probably damaging Het
Or8k40 T A 2: 86,584,843 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,532,014 (GRCm39) probably null Het
Pacsin2 T C 15: 83,270,887 (GRCm39) H254R probably damaging Het
Pif1 T A 9: 65,496,844 (GRCm39) M319K probably damaging Het
Prag1 G A 8: 36,570,200 (GRCm39) R261H possibly damaging Het
Ptprq G A 10: 107,474,700 (GRCm39) T1335I probably damaging Het
Ryr3 A G 2: 112,490,399 (GRCm39) Y3812H probably damaging Het
Sgo2b G A 8: 64,380,349 (GRCm39) Q828* probably null Het
Skint6 A G 4: 113,140,823 (GRCm39) V6A probably benign Het
Slc16a13 A G 11: 70,111,340 (GRCm39) I55T probably damaging Het
Speer4b G T 5: 27,702,881 (GRCm39) H208N probably benign Het
Tas2r124 T C 6: 132,732,378 (GRCm39) L229S probably damaging Het
Tlr4 T C 4: 66,752,124 (GRCm39) probably benign Het
Tmed1 G T 9: 21,421,369 (GRCm39) T35K probably damaging Het
Tubgcp5 C A 7: 55,445,779 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,052,247 (GRCm39) S250P possibly damaging Het
Zfp516 A G 18: 83,011,221 (GRCm39) T1085A probably damaging Het
Znfx1 T C 2: 166,879,283 (GRCm39) I1698V probably benign Het
Zswim8 G T 14: 20,763,409 (GRCm39) W385C probably damaging Het
Other mutations in Slc22a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Slc22a3 APN 17 12,644,497 (GRCm39) missense probably damaging 1.00
IGL01621:Slc22a3 APN 17 12,677,379 (GRCm39) missense probably benign 0.02
IGL02228:Slc22a3 APN 17 12,678,697 (GRCm39) missense probably damaging 1.00
R0466:Slc22a3 UTSW 17 12,677,380 (GRCm39) nonsense probably null
R1501:Slc22a3 UTSW 17 12,725,991 (GRCm39) missense probably benign 0.12
R1688:Slc22a3 UTSW 17 12,652,694 (GRCm39) missense probably damaging 1.00
R3030:Slc22a3 UTSW 17 12,676,521 (GRCm39) missense probably benign 0.00
R4604:Slc22a3 UTSW 17 12,678,658 (GRCm39) missense probably benign 0.38
R4754:Slc22a3 UTSW 17 12,726,082 (GRCm39) missense probably benign 0.03
R4796:Slc22a3 UTSW 17 12,642,675 (GRCm39) missense probably damaging 1.00
R4865:Slc22a3 UTSW 17 12,683,419 (GRCm39) missense probably benign 0.03
R5433:Slc22a3 UTSW 17 12,677,377 (GRCm39) missense probably damaging 1.00
R5483:Slc22a3 UTSW 17 12,683,354 (GRCm39) missense probably damaging 0.99
R5719:Slc22a3 UTSW 17 12,642,691 (GRCm39) missense probably damaging 1.00
R5750:Slc22a3 UTSW 17 12,652,395 (GRCm39) missense probably benign 0.01
R5872:Slc22a3 UTSW 17 12,652,355 (GRCm39) missense probably damaging 1.00
R5988:Slc22a3 UTSW 17 12,652,782 (GRCm39) missense possibly damaging 0.92
R6197:Slc22a3 UTSW 17 12,677,438 (GRCm39) missense probably benign 0.00
R7155:Slc22a3 UTSW 17 12,652,518 (GRCm39) missense possibly damaging 0.83
R7764:Slc22a3 UTSW 17 12,677,383 (GRCm39) missense probably damaging 1.00
R7775:Slc22a3 UTSW 17 12,683,350 (GRCm39) missense probably damaging 1.00
R7824:Slc22a3 UTSW 17 12,683,350 (GRCm39) missense probably damaging 1.00
R8098:Slc22a3 UTSW 17 12,642,619 (GRCm39) critical splice donor site probably null
R8407:Slc22a3 UTSW 17 12,640,368 (GRCm39) missense probably benign 0.08
R9135:Slc22a3 UTSW 17 12,645,619 (GRCm39) missense possibly damaging 0.92
R9251:Slc22a3 UTSW 17 12,726,093 (GRCm39) missense probably damaging 1.00
R9515:Slc22a3 UTSW 17 12,726,057 (GRCm39) missense probably damaging 0.99
X0027:Slc22a3 UTSW 17 12,677,358 (GRCm39) missense possibly damaging 0.91
Z1088:Slc22a3 UTSW 17 12,644,568 (GRCm39) nonsense probably null
Z1177:Slc22a3 UTSW 17 12,726,062 (GRCm39) missense probably damaging 1.00
Z1177:Slc22a3 UTSW 17 12,726,058 (GRCm39) missense probably damaging 1.00
Z1177:Slc22a3 UTSW 17 12,725,945 (GRCm39) missense probably benign
Posted On 2013-10-07