Incidental Mutation 'R1532:Slc17a3'
ID 166684
Institutional Source Beutler Lab
Gene Symbol Slc17a3
Ensembl Gene ENSMUSG00000036083
Gene Name solute carrier family 17 (sodium phosphate), member 3
Synonyms Npt4
MMRRC Submission 039571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1532 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24023417-24044699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24040483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 269 (G269D)
Ref Sequence ENSEMBL: ENSMUSP00000089290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039721] [ENSMUST00000091698] [ENSMUST00000110422] [ENSMUST00000166467]
AlphaFold G3UWD9
Predicted Effect probably damaging
Transcript: ENSMUST00000039721
AA Change: G347D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: G347D

DomainStartEndE-ValueType
Pfam:MFS_1 45 377 3.3e-46 PFAM
transmembrane domain 393 415 N/A INTRINSIC
transmembrane domain 430 452 N/A INTRINSIC
transmembrane domain 459 481 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091698
AA Change: G269D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: G269D

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:MFS_1 95 293 2.8e-25 PFAM
transmembrane domain 310 332 N/A INTRINSIC
transmembrane domain 352 369 N/A INTRINSIC
transmembrane domain 379 398 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110422
AA Change: G311D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: G311D

DomainStartEndE-ValueType
Pfam:MFS_1 39 425 6.7e-47 PFAM
transmembrane domain 453 475 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166467
AA Change: G347D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: G347D

DomainStartEndE-ValueType
Pfam:MFS_1 9 338 2.3e-46 PFAM
transmembrane domain 357 379 N/A INTRINSIC
transmembrane domain 394 416 N/A INTRINSIC
transmembrane domain 423 445 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
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 voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C A 4: 86,166,302 (GRCm39) H394N probably benign Het
Ahrr A G 13: 74,361,826 (GRCm39) S558P probably benign Het
Ankrd26 T C 6: 118,499,919 (GRCm39) N1184S probably damaging Het
Anpep A T 7: 79,476,696 (GRCm39) C14* probably null Het
Arhgap18 A G 10: 26,736,718 (GRCm39) D187G possibly damaging Het
Arhgef5 A G 6: 43,250,337 (GRCm39) T363A probably benign Het
Atxn1 A T 13: 45,720,386 (GRCm39) L503Q possibly damaging Het
Babam1 A G 8: 71,852,277 (GRCm39) D155G possibly damaging Het
Bbs9 A G 9: 22,798,945 (GRCm39) T858A probably benign Het
Cacna1g C A 11: 94,334,157 (GRCm39) G828V probably damaging Het
Ccar2 T C 14: 70,380,405 (GRCm39) T392A probably benign Het
Cd163 T C 6: 124,289,689 (GRCm39) V469A possibly damaging Het
Cdh23 G T 10: 60,150,110 (GRCm39) N2576K probably damaging Het
Coro2b A G 9: 62,396,705 (GRCm39) Y18H probably damaging Het
Crispld2 G T 8: 120,750,311 (GRCm39) K238N probably benign Het
Ctnnd2 T C 15: 30,922,014 (GRCm39) I880T probably damaging Het
Cubn C A 2: 13,292,472 (GRCm39) C3237F probably damaging Het
Ddx31 A G 2: 28,771,171 (GRCm39) M519V probably benign Het
Dhx32 A T 7: 133,350,753 (GRCm39) C106S possibly damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnaaf1 T C 8: 120,304,162 (GRCm39) F67L probably benign Het
Duox1 T G 2: 122,175,204 (GRCm39) L1334R probably damaging Het
Dync1li2 A T 8: 105,152,667 (GRCm39) I322N probably damaging Het
Eml6 T C 11: 29,742,256 (GRCm39) probably null Het
Entpd6 A G 2: 150,600,670 (GRCm39) Q126R probably benign Het
Entpd7 C G 19: 43,679,516 (GRCm39) P23R possibly damaging Het
Epha3 T C 16: 63,366,541 (GRCm39) I970V probably benign Het
Fras1 A T 5: 96,861,855 (GRCm39) H2163L probably damaging Het
Gse1 C G 8: 121,294,949 (GRCm39) probably benign Het
Heatr5a A G 12: 51,999,301 (GRCm39) V300A probably damaging Het
Hsd3b1 T A 3: 98,760,214 (GRCm39) D259V probably damaging Het
Hspbap1 T C 16: 35,645,673 (GRCm39) S453P probably damaging Het
Ifnl3 A G 7: 28,223,652 (GRCm39) T163A probably benign Het
Igbp1b T A 6: 138,635,442 (GRCm39) M1L possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lpxn T C 19: 12,781,456 (GRCm39) probably null Het
Mast1 G A 8: 85,655,238 (GRCm39) Q249* probably null Het
Mink1 A G 11: 70,492,833 (GRCm39) D153G probably null Het
Mllt10 G A 2: 18,097,646 (GRCm39) probably null Het
Mpl C T 4: 118,305,765 (GRCm39) G420E possibly damaging Het
Ms4a1 T A 19: 11,230,557 (GRCm39) T215S probably benign Het
Ncapd3 C T 9: 26,994,656 (GRCm39) Q1179* probably null Het
Nr3c2 A G 8: 77,635,733 (GRCm39) H278R probably damaging Het
Or10v5 T C 19: 11,805,983 (GRCm39) I136V probably benign Het
Or52e18 T C 7: 104,609,472 (GRCm39) I156V probably benign Het
Or5b102 A G 19: 13,041,639 (GRCm39) Y288C probably damaging Het
Os9 C T 10: 126,934,771 (GRCm39) V353M probably damaging Het
Osbpl5 A T 7: 143,248,817 (GRCm39) M589K probably benign Het
Phf20 G T 2: 156,144,969 (GRCm39) G859V possibly damaging Het
Pkhd1 G A 1: 20,187,625 (GRCm39) T3561I probably benign Het
Prss46 G A 9: 110,679,236 (GRCm39) V146I probably benign Het
Ptprk G A 10: 28,461,626 (GRCm39) V1139M probably damaging Het
Ranbp10 A G 8: 106,500,963 (GRCm39) L396P probably benign Het
Rb1cc1 A G 1: 6,319,958 (GRCm39) T1126A probably benign Het
Rbl2 G A 8: 91,833,045 (GRCm39) A659T probably benign Het
Rdm1 T C 11: 101,524,643 (GRCm39) L192P probably damaging Het
Reln A C 5: 22,239,742 (GRCm39) W842G probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sele A G 1: 163,881,420 (GRCm39) K509R probably benign Het
Slc15a1 A T 14: 121,713,396 (GRCm39) I377N possibly damaging Het
Slc35a5 T C 16: 44,971,920 (GRCm39) T115A probably benign Het
Slc5a12 T G 2: 110,440,483 (GRCm39) N157K possibly damaging Het
Sphkap A G 1: 83,234,924 (GRCm39) V1634A probably damaging Het
Spta1 T C 1: 174,074,919 (GRCm39) S2382P probably damaging Het
Synj2 C A 17: 6,084,194 (GRCm39) S1100R probably benign Het
Tcf23 A G 5: 31,130,901 (GRCm39) T180A probably benign Het
Tnxb T C 17: 34,929,804 (GRCm39) V2846A probably damaging Het
Tpr T A 1: 150,293,751 (GRCm39) I915K probably damaging Het
Uba1y C T Y: 828,862 (GRCm39) H557Y probably benign Het
Unc45b T A 11: 82,827,700 (GRCm39) D730E probably benign Het
Unc5b A T 10: 60,605,011 (GRCm39) L734Q probably damaging Het
Vmn1r167 G T 7: 23,204,204 (GRCm39) H271N probably benign Het
Vmn2r76 A G 7: 85,879,454 (GRCm39) V282A probably benign Het
Xirp2 A G 2: 67,344,283 (GRCm39) K2175E probably benign Het
Other mutations in Slc17a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Slc17a3 APN 13 24,040,464 (GRCm39) missense probably benign 0.20
IGL02569:Slc17a3 APN 13 24,030,285 (GRCm39) missense probably damaging 1.00
IGL02628:Slc17a3 APN 13 24,026,434 (GRCm39) start codon destroyed probably null 1.00
IGL02745:Slc17a3 APN 13 24,026,469 (GRCm39) missense probably benign 0.01
IGL03001:Slc17a3 APN 13 24,040,767 (GRCm39) missense probably damaging 1.00
IGL03143:Slc17a3 APN 13 24,039,962 (GRCm39) splice site probably null
IGL03144:Slc17a3 APN 13 24,030,423 (GRCm39) missense probably benign 0.00
R0052:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0054:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0131:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0131:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0152:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0153:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0233:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0234:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0257:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0294:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0295:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0318:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0319:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0352:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0462:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0610:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0627:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0652:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0765:Slc17a3 UTSW 13 24,030,879 (GRCm39) nonsense probably null
R1529:Slc17a3 UTSW 13 24,029,428 (GRCm39) missense probably damaging 1.00
R1569:Slc17a3 UTSW 13 24,039,591 (GRCm39) missense probably benign 0.09
R1640:Slc17a3 UTSW 13 24,036,340 (GRCm39) nonsense probably null
R1643:Slc17a3 UTSW 13 24,041,181 (GRCm39) splice site probably benign
R1715:Slc17a3 UTSW 13 24,040,724 (GRCm39) missense probably benign 0.19
R2407:Slc17a3 UTSW 13 24,036,418 (GRCm39) critical splice donor site probably null
R2512:Slc17a3 UTSW 13 24,030,230 (GRCm39) missense probably benign 0.13
R3923:Slc17a3 UTSW 13 24,042,037 (GRCm39) missense possibly damaging 0.89
R4449:Slc17a3 UTSW 13 24,040,715 (GRCm39) missense probably damaging 0.99
R5166:Slc17a3 UTSW 13 24,026,525 (GRCm39) critical splice donor site probably null
R5748:Slc17a3 UTSW 13 24,040,449 (GRCm39) missense probably damaging 1.00
R5989:Slc17a3 UTSW 13 24,026,411 (GRCm39) start gained probably benign
R6281:Slc17a3 UTSW 13 24,040,782 (GRCm39) missense probably benign 0.17
R6811:Slc17a3 UTSW 13 24,039,924 (GRCm39) missense possibly damaging 0.61
R7283:Slc17a3 UTSW 13 24,039,831 (GRCm39) missense
R7341:Slc17a3 UTSW 13 24,030,867 (GRCm39) nonsense probably null
R7467:Slc17a3 UTSW 13 24,030,950 (GRCm39) critical splice donor site probably null
R7485:Slc17a3 UTSW 13 24,039,832 (GRCm39) missense
R8065:Slc17a3 UTSW 13 24,042,070 (GRCm39) missense unknown
R8770:Slc17a3 UTSW 13 24,039,607 (GRCm39) missense
R8809:Slc17a3 UTSW 13 24,039,575 (GRCm39) nonsense probably null
R8867:Slc17a3 UTSW 13 24,039,943 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGTGCAGGACATTGAACCCCATTAC -3'
(R):5'- TTGGATATAGGGCAGAGCCGCAAC -3'

Sequencing Primer
(F):5'- tctcctcccctcccccc -3'
(R):5'- CTAGGAAATGTGGAACAGACAAATGC -3'
Posted On 2014-04-13