Incidental Mutation 'R2254:Slc22a12'
ID 241901
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 040254-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2254 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6585875-6593062 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6592571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 57 (V57D)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113451] [ENSMUST00000113459]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000113451
AA Change: V71D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742
AA Change: V71D

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 possibly damaging
Transcript: ENSMUST00000126142
AA Change: V57D

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114626
Gene: ENSMUSG00000061742
AA Change: V57D

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,311,365 (GRCm39) E260G probably benign Het
AI429214 G T 8: 37,460,920 (GRCm39) D23Y possibly damaging Het
Alms1 A G 6: 85,596,830 (GRCm39) Y1021C probably damaging Het
Ang5 A G 14: 44,200,074 (GRCm39) D46G probably benign Het
Ano9 T A 7: 140,683,003 (GRCm39) D635V probably benign Het
Apob C T 12: 8,061,256 (GRCm39) T3246I possibly damaging Het
Arhgef25 T C 10: 127,025,390 (GRCm39) E63G probably benign Het
B3gnt4 A C 5: 123,649,342 (GRCm39) I236L probably damaging Het
Bmper T A 9: 23,292,759 (GRCm39) I356N possibly damaging Het
Capn3 A G 2: 120,331,732 (GRCm39) E614G probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Cdcp3 G T 7: 130,824,634 (GRCm39) C243F probably damaging Het
Cdh2 A T 18: 16,776,985 (GRCm39) probably null Het
Chmp7 C T 14: 69,958,405 (GRCm39) V255I probably damaging Het
Dnhd1 T A 7: 105,352,979 (GRCm39) S2711T probably damaging Het
Gabrg1 T A 5: 70,939,707 (GRCm39) K137* probably null Het
Gdi2 T A 13: 3,604,400 (GRCm39) probably null Het
Glyr1 A G 16: 4,836,877 (GRCm39) V429A probably benign Het
Gm5938 T A X: 77,172,161 (GRCm39) probably null Het
Golt1b T C 6: 142,341,979 (GRCm39) L121P probably damaging Het
Gpi1 T C 7: 33,902,302 (GRCm39) N471S probably damaging Het
Ifi204 G A 1: 173,589,296 (GRCm39) T45M possibly damaging Het
Il18r1 A G 1: 40,530,380 (GRCm39) N369S possibly damaging Het
Kcnh1 G T 1: 192,187,722 (GRCm39) probably null Het
Kitl G A 10: 99,915,993 (GRCm39) probably null Het
Krt33a A T 11: 99,905,004 (GRCm39) D167E possibly damaging Het
Lax1 A G 1: 133,607,971 (GRCm39) S257P probably damaging Het
Lepr T C 4: 101,672,309 (GRCm39) I1111T probably benign Het
Lrrcc1 G A 3: 14,612,315 (GRCm39) R356H probably damaging Het
Map1a A G 2: 121,134,272 (GRCm39) D1458G possibly damaging Het
Med11 T C 11: 70,342,921 (GRCm39) probably null Het
Mtmr2 T C 9: 13,707,353 (GRCm39) Y230H possibly damaging Het
Nup93 T C 8: 94,954,485 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,271 (GRCm39) V294A probably damaging Het
Ovch2 A G 7: 107,389,402 (GRCm39) V342A probably benign Het
Ovgp1 A G 3: 105,894,228 (GRCm39) probably benign Het
Oxtr A T 6: 112,466,067 (GRCm39) L231Q probably damaging Het
Prap1 A G 7: 139,676,075 (GRCm39) T30A probably damaging Het
Scg2 G A 1: 79,414,217 (GRCm39) P169S probably damaging Het
Scube2 A G 7: 109,424,666 (GRCm39) V549A possibly damaging Het
Slc22a28 A C 19: 8,041,858 (GRCm39) C450G probably benign Het
Tas2r120 A T 6: 132,634,572 (GRCm39) Q218L probably benign Het
Tbx15 A G 3: 99,259,190 (GRCm39) T354A possibly damaging Het
Trim24 A G 6: 37,935,612 (GRCm39) T868A probably benign Het
Ttn T A 2: 76,598,684 (GRCm39) M19410L possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Upb1 G A 10: 75,272,051 (GRCm39) R288H probably damaging Het
Wdr20rt T A 12: 65,273,007 (GRCm39) W56R probably damaging Het
Wdr62 T G 7: 29,967,328 (GRCm39) I309L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp40 T C 17: 23,397,344 (GRCm39) D51G possibly damaging Het
Zfp64 G A 2: 168,768,662 (GRCm39) H317Y probably 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
R1816:Slc22a12 UTSW 19 6,592,683 (GRCm39) nonsense probably null
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'- GTCACGATTGTGGACCTGAAGG -3'
(R):5'- ACCCATGGCCTTTCCTGAAC -3'

Sequencing Primer
(F):5'- AAGGTGCTGTGGTCGTAAAC -3'
(R):5'- TTCCTGAACTCCTGGACCGAG -3'
Posted On 2014-10-16