Incidental Mutation 'R1569:Slc17a3'
ID 177142
Institutional Source Beutler Lab
Gene Symbol Slc17a3
Ensembl Gene ENSMUSG00000036083
Gene Name solute carrier family 17 (sodium phosphate), member 3
Synonyms Npt4
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24023417-24044699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24039591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 250 (I250F)
Ref Sequence ENSEMBL: ENSMUSP00000131308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039721] [ENSMUST00000091698] [ENSMUST00000110422] [ENSMUST00000166467]
AlphaFold G3UWD9
Predicted Effect probably benign
Transcript: ENSMUST00000039721
AA Change: I250F

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: I250F

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 benign
Transcript: ENSMUST00000091698
AA Change: I172F

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: I172F

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 benign
Transcript: ENSMUST00000110422
AA Change: I214F

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: I214F

DomainStartEndE-ValueType
Pfam:MFS_1 39 425 6.7e-47 PFAM
transmembrane domain 453 475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166467
AA Change: I250F

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: I250F

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging 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
R1532:Slc17a3 UTSW 13 24,040,483 (GRCm39) missense probably damaging 1.00
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'- TGCATTCATGGCTGATAACATCCACA -3'
(R):5'- GCTGCTCTTCTGAGCTGAACTGAAA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CTTCTGAGCTGAACTGAAAAGAAATG -3'
Posted On 2014-04-24