Incidental Mutation 'R2321:Slc22a13'
ID 245646
Institutional Source Beutler Lab
Gene Symbol Slc22a13
Ensembl Gene ENSMUSG00000074028
Gene Name solute carrier family 22 (organic cation transporter), member 13
Synonyms OCTL3, OCTL1, ORCTL3
MMRRC Submission 040313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R2321 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119022040-119038164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119024694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 261 (V261D)
Ref Sequence ENSEMBL: ENSMUSP00000081855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084797] [ENSMUST00000170400]
AlphaFold Q6A4L0
Predicted Effect possibly damaging
Transcript: ENSMUST00000084797
AA Change: V261D

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081855
Gene: ENSMUSG00000074028
AA Change: V261D

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Sugar_tr 104 514 2.2e-41 PFAM
Pfam:MFS_1 133 468 2.6e-26 PFAM
Pfam:MFS_1 355 537 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170400
SMART Domains Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Sugar_tr 150 555 1.2e-28 PFAM
Pfam:MFS_1 178 514 7.6e-28 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abcf2 A T 5: 24,772,251 (GRCm39) Y492* probably null Het
Adcy9 A G 16: 4,106,132 (GRCm39) V994A probably damaging Het
Arhgef40 T C 14: 52,231,733 (GRCm39) probably benign Het
Bhlha15 T C 5: 144,128,014 (GRCm39) L42P probably damaging Het
Clca4b C A 3: 144,638,134 (GRCm39) A43S probably benign Het
Cpq A G 15: 33,594,291 (GRCm39) H434R probably benign Het
Crybg2 A G 4: 133,801,822 (GRCm39) E994G probably benign Het
Dcaf1 T C 9: 106,715,672 (GRCm39) L263S probably benign Het
Dnajc12 G T 10: 63,242,990 (GRCm39) probably benign Het
Fbxo32 T C 15: 58,054,689 (GRCm39) I215V possibly damaging Het
Krtap17-1 T C 11: 99,884,746 (GRCm39) D7G unknown Het
Men1 A G 19: 6,389,868 (GRCm39) D466G possibly damaging Het
Myh15 T A 16: 48,933,436 (GRCm39) F624I possibly damaging Het
Ncam1 A C 9: 49,456,132 (GRCm39) probably benign Het
Or2y1d A G 11: 49,322,107 (GRCm39) N268S probably benign Het
Otol1 T A 3: 69,925,858 (GRCm39) L11* probably null Het
Plekhg4 T C 8: 106,104,172 (GRCm39) S447P probably benign Het
Pnma8b G T 7: 16,679,490 (GRCm39) R158L unknown Het
Ppp1r2 A T 16: 31,084,121 (GRCm39) probably null Het
Rad51ap2 G A 12: 11,507,058 (GRCm39) G327R probably damaging Het
Rbm26 T C 14: 105,390,863 (GRCm39) T208A unknown Het
Reln T C 5: 22,120,018 (GRCm39) Y2878C probably damaging Het
Rnps1 T A 17: 24,641,142 (GRCm39) F181I probably damaging Het
Senp6 A C 9: 80,031,022 (GRCm39) I575L possibly damaging Het
Serpinh1 T C 7: 98,995,592 (GRCm39) D330G probably damaging Het
Slamf9 G T 1: 172,304,980 (GRCm39) C198F probably damaging Het
Slc26a4 A G 12: 31,590,543 (GRCm39) V370A probably damaging Het
Tasp1 A G 2: 139,899,332 (GRCm39) M7T probably benign Het
Tet2 T C 3: 133,192,100 (GRCm39) N778S possibly damaging Het
Tm9sf4 T A 2: 153,046,506 (GRCm39) Y582N probably damaging Het
Tmem131l T A 3: 83,843,330 (GRCm39) H508L probably damaging Het
Tmem71 T G 15: 66,423,849 (GRCm39) D139A possibly damaging Het
Uroc1 A G 6: 90,324,229 (GRCm39) R418G possibly damaging Het
Wdr64 A C 1: 175,622,653 (GRCm39) K810T possibly damaging Het
Zgrf1 C A 3: 127,356,056 (GRCm39) Y427* probably null Het
Other mutations in Slc22a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02828:Slc22a13 APN 9 119,024,773 (GRCm39) missense probably benign 0.25
IGL02871:Slc22a13 APN 9 119,025,077 (GRCm39) missense probably benign 0.01
R0764:Slc22a13 UTSW 9 119,037,746 (GRCm39) splice site probably null
R1469:Slc22a13 UTSW 9 119,022,361 (GRCm39) missense possibly damaging 0.67
R1469:Slc22a13 UTSW 9 119,022,361 (GRCm39) missense possibly damaging 0.67
R1545:Slc22a13 UTSW 9 119,038,113 (GRCm39) missense probably benign 0.00
R2154:Slc22a13 UTSW 9 119,037,753 (GRCm39) missense probably benign 0.00
R3808:Slc22a13 UTSW 9 119,025,143 (GRCm39) missense probably benign
R3840:Slc22a13 UTSW 9 119,037,855 (GRCm39) missense probably benign 0.18
R4736:Slc22a13 UTSW 9 119,022,698 (GRCm39) missense probably damaging 1.00
R6286:Slc22a13 UTSW 9 119,037,778 (GRCm39) nonsense probably null
R6899:Slc22a13 UTSW 9 119,025,473 (GRCm39) missense probably damaging 1.00
R7579:Slc22a13 UTSW 9 119,024,226 (GRCm39) missense possibly damaging 0.62
R8755:Slc22a13 UTSW 9 119,038,126 (GRCm39) start codon destroyed probably damaging 0.98
Z1177:Slc22a13 UTSW 9 119,022,370 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAGATTCTGGCAGAACCCTGTC -3'
(R):5'- TTTGGGAAACTGCCAGAAGG -3'

Sequencing Primer
(F):5'- GAACCCTGTCAACCACGCATG -3'
(R):5'- AGTGAGGAGATGAGATCCAGTC -3'
Posted On 2014-10-30