Incidental Mutation 'R1816:Slc22a12'
ID 204457
Institutional Source Beutler Lab
Gene Symbol Slc22a12
Ensembl Gene ENSMUSG00000061742
Gene Name solute carrier family 22 (organic anion/cation transporter), member 12
Synonyms Rst, URAT1
MMRRC Submission 039844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1816 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6585875-6593062 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 6592683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 20 (Q20*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113451] [ENSMUST00000113459]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000113451
AA Change: Q34*
SMART Domains Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742
AA Change: Q34*

DomainStartEndE-ValueType
Pfam:Sugar_tr 95 525 2e-26 PFAM
Pfam:MFS_1 128 484 7.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113459
SMART Domains Protein: ENSMUSP00000109086
Gene: ENSMUSG00000033768

DomainStartEndE-ValueType
signal peptide 1 46 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
LamG 111 238 1.26e-19 SMART
low complexity region 267 297 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000126142
AA Change: Q20*
SMART Domains Protein: ENSMUSP00000114626
Gene: ENSMUSG00000061742
AA Change: Q20*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 229 248 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153483
Meta Mutation Damage Score 0.9656 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.9%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urinary urate levels and altered urine and plasma metabolite composition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,644,222 (GRCm39) Y721* probably null Het
4933405L10Rik T A 8: 106,436,491 (GRCm39) V220E possibly damaging Het
4933434E20Rik T C 3: 89,960,398 (GRCm39) V13A possibly damaging Het
Adam1b T G 5: 121,639,788 (GRCm39) Q419P probably damaging Het
Ankib1 A G 5: 3,784,028 (GRCm39) V316A probably benign Het
Anks1 T A 17: 28,205,547 (GRCm39) D294E probably damaging Het
Atr T C 9: 95,748,747 (GRCm39) S431P probably benign Het
Bfsp1 C T 2: 143,683,599 (GRCm39) A242T probably benign Het
Bptf A T 11: 106,951,405 (GRCm39) V279E probably damaging Het
Camkk2 A G 5: 122,872,243 (GRCm39) L540P probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Ceacam12 T A 7: 17,805,690 (GRCm39) probably null Het
Cntnap5a G T 1: 116,356,618 (GRCm39) A823S probably benign Het
Cp T C 3: 20,022,384 (GRCm39) probably benign Het
Dhx58 A G 11: 100,593,978 (GRCm39) V163A probably damaging Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Disp1 T A 1: 182,880,139 (GRCm39) D288V probably damaging Het
Dnah7a A G 1: 53,670,901 (GRCm39) probably benign Het
Eaf2 T G 16: 36,628,371 (GRCm39) probably benign Het
Efna1 T C 3: 89,183,694 (GRCm39) N44S possibly damaging Het
Etnppl T C 3: 130,428,211 (GRCm39) I462T probably benign Het
Fam83d G T 2: 158,610,070 (GRCm39) A13S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Fstl1 A G 16: 37,647,086 (GRCm39) probably null Het
Gm14226 A T 2: 154,867,549 (GRCm39) D502V probably damaging Het
Gm5117 T A 8: 32,228,986 (GRCm39) noncoding transcript Het
Gm973 A G 1: 59,621,558 (GRCm39) N566S probably damaging Het
Grm7 A T 6: 111,472,752 (GRCm39) K16* probably null Het
Hbb-bh2 G A 7: 103,489,585 (GRCm39) T17I possibly damaging Het
Htt C T 5: 34,961,084 (GRCm39) A237V probably benign Het
Itga6 T C 2: 71,671,153 (GRCm39) V665A probably benign Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Mki67 T C 7: 135,309,116 (GRCm39) D445G possibly damaging Het
Myo10 T C 15: 25,800,286 (GRCm39) V1454A probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Odam A G 5: 88,037,329 (GRCm39) probably null Het
Or1e33 T C 11: 73,738,025 (GRCm39) K309E probably benign Het
Or2ag13 A T 7: 106,472,695 (GRCm39) Y252* probably null Het
Or4p18 T G 2: 88,232,943 (GRCm39) I112L possibly damaging Het
Or5g29 G T 2: 85,421,269 (GRCm39) K128N probably benign Het
Or5p80 T C 7: 108,229,364 (GRCm39) L55P probably damaging Het
Or8k33 A T 2: 86,384,011 (GRCm39) C152* probably null Het
Pcm1 T A 8: 41,762,574 (GRCm39) S1412T probably damaging Het
Pgap1 A G 1: 54,531,216 (GRCm39) L753P probably damaging Het
Pi4k2b T C 5: 52,908,088 (GRCm39) S153P probably damaging Het
Pik3c2b C T 1: 133,029,108 (GRCm39) A1398V probably benign Het
Pkhd1l1 T C 15: 44,391,635 (GRCm39) I1567T possibly damaging Het
Rapgef6 G A 11: 54,585,314 (GRCm39) V1571I probably benign Het
Rfx2 C A 17: 57,115,305 (GRCm39) E5* probably null Het
Sh3tc1 C A 5: 35,857,928 (GRCm39) probably null Het
Slc4a1 A G 11: 102,242,056 (GRCm39) C861R probably damaging Het
Snrnp25 G A 11: 32,157,565 (GRCm39) V48I probably damaging Het
Spata1 G T 3: 146,186,962 (GRCm39) P211Q probably damaging Het
Srgap1 G A 10: 121,761,876 (GRCm39) Q91* probably null Het
Stab1 T C 14: 30,879,422 (GRCm39) D686G probably benign Het
Stx8 T A 11: 67,902,152 (GRCm39) M112K possibly damaging Het
Tfap2b A T 1: 19,279,436 (GRCm39) K15N probably damaging Het
Thbs2 C A 17: 14,890,975 (GRCm39) D1052Y probably benign Het
Thbs2 T A 17: 14,890,976 (GRCm39) E1051D probably benign Het
Thoc2l A G 5: 104,665,700 (GRCm39) D74G probably benign Het
Tlr2 T C 3: 83,745,516 (GRCm39) Y189C probably damaging Het
Tmem268 C A 4: 63,483,947 (GRCm39) P55T possibly damaging Het
Tnpo3 T C 6: 29,557,016 (GRCm39) H745R probably benign Het
Trappc14 A G 5: 138,258,603 (GRCm39) V548A possibly damaging Het
Ube2s T C 7: 4,814,554 (GRCm39) N2S probably damaging Het
Ulk1 A G 5: 110,935,697 (GRCm39) Y39H probably damaging Het
Vmn1r49 G T 6: 90,049,785 (GRCm39) D72E possibly damaging Het
Vmn2r27 C A 6: 124,207,330 (GRCm39) G104* probably null Het
Vmn2r92 A G 17: 18,386,939 (GRCm39) I93V probably damaging Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zfp958 A T 8: 4,679,147 (GRCm39) I391F possibly damaging Het
Other mutations in Slc22a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02033:Slc22a12 APN 19 6,587,844 (GRCm39) missense probably benign 0.19
IGL02586:Slc22a12 APN 19 6,590,487 (GRCm39) missense probably benign 0.03
mutual UTSW 19 6,592,683 (GRCm39) nonsense probably null
reinforcement UTSW 19 6,587,199 (GRCm39) missense probably benign 0.03
R1353:Slc22a12 UTSW 19 6,587,812 (GRCm39) missense possibly damaging 0.66
R1757:Slc22a12 UTSW 19 6,586,761 (GRCm39) splice site probably null
R2254:Slc22a12 UTSW 19 6,592,571 (GRCm39) missense possibly damaging 0.86
R4110:Slc22a12 UTSW 19 6,590,658 (GRCm39) missense probably damaging 1.00
R4125:Slc22a12 UTSW 19 6,588,818 (GRCm39) missense probably damaging 0.99
R4342:Slc22a12 UTSW 19 6,591,129 (GRCm39) missense probably benign 0.15
R4762:Slc22a12 UTSW 19 6,588,474 (GRCm39) missense probably benign 0.02
R4927:Slc22a12 UTSW 19 6,587,791 (GRCm39) missense probably benign 0.23
R5690:Slc22a12 UTSW 19 6,586,878 (GRCm39) missense probably benign 0.00
R5772:Slc22a12 UTSW 19 6,590,479 (GRCm39) missense possibly damaging 0.67
R5946:Slc22a12 UTSW 19 6,587,881 (GRCm39) missense probably damaging 1.00
R6137:Slc22a12 UTSW 19 6,592,754 (GRCm39) missense probably benign 0.07
R7740:Slc22a12 UTSW 19 6,587,199 (GRCm39) missense probably benign 0.03
R7978:Slc22a12 UTSW 19 6,586,938 (GRCm39) missense possibly damaging 0.84
R8028:Slc22a12 UTSW 19 6,588,469 (GRCm39) missense probably benign 0.15
R8508:Slc22a12 UTSW 19 6,592,467 (GRCm39) missense probably benign 0.03
R8992:Slc22a12 UTSW 19 6,592,514 (GRCm39) missense possibly damaging 0.62
R9559:Slc22a12 UTSW 19 6,587,686 (GRCm39) missense probably damaging 1.00
R9644:Slc22a12 UTSW 19 6,587,673 (GRCm39) missense probably damaging 0.99
R9716:Slc22a12 UTSW 19 6,586,765 (GRCm39) critical splice donor site probably null
X0062:Slc22a12 UTSW 19 6,587,157 (GRCm39) missense probably damaging 1.00
Z1088:Slc22a12 UTSW 19 6,588,493 (GRCm39) missense possibly damaging 0.54
Z1177:Slc22a12 UTSW 19 6,590,431 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCATTGAGGTTGTCGGAAGC -3'
(R):5'- ATATGAAGAGACTGGTGTGGTC -3'

Sequencing Primer
(F):5'- TTGTCGGAAGCGGAGGCAC -3'
(R):5'- CTGGTGTGGTCAGAGCCAAG -3'
Posted On 2014-06-23