Incidental Mutation 'R5147:Slc22a1'
ID 395172
Institutional Source Beutler Lab
Gene Symbol Slc22a1
Ensembl Gene ENSMUSG00000023829
Gene Name solute carrier family 22 (organic cation transporter), member 1
Synonyms Oct1, Lx1, Orct1, Oct1, Orct
MMRRC Submission 042731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5147 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 12867756-12894716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12869838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 508 (G508R)
Ref Sequence ENSEMBL: ENSMUSP00000024596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024596]
AlphaFold O08966
Predicted Effect probably damaging
Transcript: ENSMUST00000024596
AA Change: G508R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024596
Gene: ENSMUSG00000023829
AA Change: G508R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:MFS_1 134 482 1.3e-25 PFAM
Pfam:Sugar_tr 143 529 5.3e-33 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
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. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,149 (GRCm39) Y2121H probably benign Het
Adgrf2 A G 17: 43,021,574 (GRCm39) Y417H probably damaging Het
Ap5z1 A C 5: 142,452,265 (GRCm39) D66A probably benign Het
Cachd1 T A 4: 100,821,688 (GRCm39) Y422N probably damaging Het
Cfap54 C T 10: 92,773,700 (GRCm39) G114D probably benign Het
Cgref1 C T 5: 31,091,049 (GRCm39) G255E probably benign Het
Cyp2a22 A C 7: 26,635,750 (GRCm39) L271R probably damaging Het
Dcp2 G T 18: 44,550,662 (GRCm39) E379* probably null Het
Fhl3 T A 4: 124,601,724 (GRCm39) D277E probably benign Het
Gm19684 C T 17: 36,439,411 (GRCm39) V190M probably damaging Het
Hpse T C 5: 100,867,375 (GRCm39) D29G probably benign Het
Il31 T C 5: 123,620,121 (GRCm39) probably benign Het
Ilk T C 7: 105,391,774 (GRCm39) C422R possibly damaging Het
Itga1 T G 13: 115,121,678 (GRCm39) D777A possibly damaging Het
Kank3 A G 17: 34,041,176 (GRCm39) D556G probably damaging Het
Lrit3 A G 3: 129,597,574 (GRCm39) S36P possibly damaging Het
Magi1 C T 6: 93,724,248 (GRCm39) E256K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mymk C T 2: 26,952,299 (GRCm39) M148I probably benign Het
Nlrp12 T A 7: 3,290,003 (GRCm39) I170F possibly damaging Het
Odad3 T C 9: 21,906,158 (GRCm39) E260G probably benign Het
Or5al7 A T 2: 85,992,378 (GRCm39) I305K possibly damaging Het
Or5an11 T A 19: 12,246,268 (GRCm39) S225T probably damaging Het
Pkd1l1 G A 11: 8,799,003 (GRCm39) T1803I possibly damaging Het
Ppp2r2b C T 18: 42,778,942 (GRCm39) V398I probably benign Het
Ppp2r5e T A 12: 75,516,544 (GRCm39) R214S probably damaging Het
Prss16 T C 13: 22,190,264 (GRCm39) D298G possibly damaging Het
Qprt G A 7: 126,707,622 (GRCm39) R189W probably damaging Het
Rara C T 11: 98,841,550 (GRCm39) S36F probably benign Het
Rasal2 A G 1: 157,003,264 (GRCm39) V465A probably damaging Het
Slco2a1 C A 9: 102,927,468 (GRCm39) F120L probably damaging Het
Tex15 T A 8: 34,062,340 (GRCm39) L864* probably null Het
Tssk4 A G 14: 55,888,430 (GRCm39) I100V possibly damaging Het
Vgll4 A G 6: 114,867,576 (GRCm39) probably null Het
Vmn1r65 T G 7: 6,011,818 (GRCm39) I139L probably benign Het
Vps13b C T 15: 35,456,824 (GRCm39) P757S probably benign Het
Ythdc2 G A 18: 44,977,359 (GRCm39) G385E probably damaging Het
Other mutations in Slc22a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Slc22a1 APN 17 12,869,749 (GRCm39) splice site probably benign
IGL02313:Slc22a1 APN 17 12,894,387 (GRCm39) nonsense probably null
IGL02578:Slc22a1 APN 17 12,886,126 (GRCm39) missense probably damaging 1.00
R0017:Slc22a1 UTSW 17 12,878,646 (GRCm39) missense probably damaging 1.00
R0136:Slc22a1 UTSW 17 12,881,483 (GRCm39) missense probably benign 0.03
R0306:Slc22a1 UTSW 17 12,881,485 (GRCm39) missense probably benign 0.03
R0408:Slc22a1 UTSW 17 12,875,828 (GRCm39) missense probably damaging 1.00
R0487:Slc22a1 UTSW 17 12,881,487 (GRCm39) nonsense probably null
R0654:Slc22a1 UTSW 17 12,881,679 (GRCm39) missense probably damaging 1.00
R0811:Slc22a1 UTSW 17 12,885,505 (GRCm39) splice site probably benign
R0866:Slc22a1 UTSW 17 12,875,933 (GRCm39) missense probably benign 0.00
R1414:Slc22a1 UTSW 17 12,881,487 (GRCm39) missense probably damaging 1.00
R1490:Slc22a1 UTSW 17 12,881,780 (GRCm39) splice site probably null
R4801:Slc22a1 UTSW 17 12,894,422 (GRCm39) missense probably damaging 1.00
R4802:Slc22a1 UTSW 17 12,894,422 (GRCm39) missense probably damaging 1.00
R5101:Slc22a1 UTSW 17 12,886,129 (GRCm39) missense probably damaging 1.00
R6816:Slc22a1 UTSW 17 12,871,370 (GRCm39) missense possibly damaging 0.83
R6875:Slc22a1 UTSW 17 12,886,192 (GRCm39) nonsense probably null
R7263:Slc22a1 UTSW 17 12,885,587 (GRCm39) missense probably damaging 1.00
R7295:Slc22a1 UTSW 17 12,875,892 (GRCm39) missense probably benign 0.09
R7947:Slc22a1 UTSW 17 12,871,310 (GRCm39) missense probably benign 0.00
R9123:Slc22a1 UTSW 17 12,878,598 (GRCm39) missense probably benign 0.00
R9125:Slc22a1 UTSW 17 12,878,598 (GRCm39) missense probably benign 0.00
R9336:Slc22a1 UTSW 17 12,886,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGATAACTGAGAATGTGCTG -3'
(R):5'- TGGAATCCGCTTCTGTAGTG -3'

Sequencing Primer
(F):5'- GCAATGCTGGGACCCTTTACAG -3'
(R):5'- CGCTTCTGTAGTGGCAAATAC -3'
Posted On 2016-06-21