Incidental Mutation 'R5750:Slc22a3'
ID 445986
Institutional Source Beutler Lab
Gene Symbol Slc22a3
Ensembl Gene ENSMUSG00000023828
Gene Name solute carrier family 22 (organic cation transporter), member 3
Synonyms EMT, Oct3, Orct3
MMRRC Submission 043356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5750 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 12638859-12726591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12652395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 410 (I410V)
Ref Sequence ENSEMBL: ENSMUSP00000024595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024595]
AlphaFold Q9WTW5
Predicted Effect probably benign
Transcript: ENSMUST00000024595
AA Change: I410V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828
AA Change: I410V

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
Meta Mutation Damage Score 0.0666 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmat G A 4: 141,476,998 (GRCm39) V135I probably benign Het
Agr3 T C 12: 35,996,941 (GRCm39) Y72H probably benign Het
Ankhd1 T A 18: 36,757,955 (GRCm39) M883K probably benign Het
Cpeb1 A T 7: 81,086,099 (GRCm39) D9E probably benign Het
Creb3l1 C T 2: 91,816,608 (GRCm39) V386M possibly damaging Het
Dnlz C T 2: 26,241,423 (GRCm39) V102M probably damaging Het
Esp4 C T 17: 40,913,286 (GRCm39) T51M probably benign Het
Fap C A 2: 62,359,058 (GRCm39) C443F probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Fshr T A 17: 89,293,669 (GRCm39) L336F probably benign Het
Gna15 G A 10: 81,345,230 (GRCm39) Q212* probably null Het
Hk1 A G 10: 62,110,245 (GRCm39) F785L possibly damaging Het
Ints8 T A 4: 11,241,654 (GRCm39) Q263L possibly damaging Het
Itgax T C 7: 127,743,878 (GRCm39) F880L probably benign Het
Kcnq4 A C 4: 120,572,246 (GRCm39) V327G probably damaging Het
Kdm4a A G 4: 117,999,396 (GRCm39) probably benign Het
Leng8 C T 7: 4,145,119 (GRCm39) S173L probably benign Het
Lrrc37a C T 11: 103,348,923 (GRCm39) D2591N unknown Het
Macrod2 T A 2: 141,357,240 (GRCm39) S179T probably benign Het
Map4k2 T A 19: 6,401,367 (GRCm39) S612R probably benign Het
Mast2 A G 4: 116,166,086 (GRCm39) probably benign Het
Micall2 C T 5: 139,701,456 (GRCm39) probably null Het
Miga2 T A 2: 30,261,577 (GRCm39) W191R probably damaging Het
Mterf1b T C 5: 4,246,683 (GRCm39) I108T probably damaging Het
Myh2 A G 11: 67,082,254 (GRCm39) I1319V probably benign Het
Nalcn T C 14: 123,809,450 (GRCm39) E234G probably benign Het
Ncoa4 T A 14: 31,899,264 (GRCm39) C602* probably null Het
Ntrk2 C A 13: 58,956,736 (GRCm39) P65Q probably benign Het
Or52z15 G A 7: 103,332,362 (GRCm39) V136I possibly damaging Het
Or6c215 C T 10: 129,637,489 (GRCm39) V302M probably benign Het
P3h1 A T 4: 119,095,863 (GRCm39) I324F probably damaging Het
Peli2 G T 14: 48,493,632 (GRCm39) V285L possibly damaging Het
Qser1 A G 2: 104,619,268 (GRCm39) S515P probably damaging Het
Rnf31 C T 14: 55,836,143 (GRCm39) R721C probably damaging Het
Rps5 A G 7: 12,659,334 (GRCm39) K42E probably damaging Het
Rufy4 A T 1: 74,172,068 (GRCm39) T264S probably benign Het
Shq1 A T 6: 100,588,775 (GRCm39) V259D possibly damaging Het
Stx5a T C 19: 8,732,501 (GRCm39) probably benign Het
Syne1 G T 10: 5,289,209 (GRCm39) H1430Q probably benign Het
Tasor2 G A 13: 3,623,642 (GRCm39) Q1421* probably null Het
Tmem126b A C 7: 90,118,865 (GRCm39) V141G probably damaging Het
Trim52 C A 14: 106,344,932 (GRCm39) Q197K probably benign Het
Tshz1 A G 18: 84,032,086 (GRCm39) L774P possibly damaging Het
Ttn T C 2: 76,602,031 (GRCm39) S10217G possibly damaging Het
Unc45a A G 7: 79,984,571 (GRCm39) V228A probably benign Het
Unc93a2 C T 17: 7,637,130 (GRCm39) V133I probably benign Het
Vwa2 G T 19: 56,897,663 (GRCm39) G656V probably benign Het
Xpo5 T C 17: 46,529,556 (GRCm39) probably null Het
Zeb2 T A 2: 44,887,530 (GRCm39) Q494L probably damaging Het
Other mutations in Slc22a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Slc22a3 APN 17 12,644,497 (GRCm39) missense probably damaging 1.00
IGL01343:Slc22a3 APN 17 12,644,516 (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
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
Predicted Primers PCR Primer
(F):5'- CTTTGGAAGGAATAGCGCAC -3'
(R):5'- GATTTTGTGCACAGGCTTCCC -3'

Sequencing Primer
(F):5'- GGAATAGCGCACACAGCTCAG -3'
(R):5'- TGTCCTGATGTCCCGCAG -3'
Posted On 2016-11-21