Incidental Mutation 'R6463:Slc13a3'
ID 517669
Institutional Source Beutler Lab
Gene Symbol Slc13a3
Ensembl Gene ENSMUSG00000018459
Gene Name solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
Synonyms SDCT2, NaDC3, NaDC-3
MMRRC Submission 045324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6463 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 165247215-165315117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 165287573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 127 (L127R)
Ref Sequence ENSEMBL: ENSMUSP00000104902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
AlphaFold Q91Y63
Predicted Effect probably damaging
Transcript: ENSMUST00000029208
AA Change: L127R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: L127R

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 9 571 2.6e-110 PFAM
Pfam:CitMHS 43 167 1.4e-15 PFAM
Pfam:CitMHS 221 486 5.3e-18 PFAM
low complexity region 578 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109279
AA Change: L127R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: L127R

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 9 270 6.7e-49 PFAM
Pfam:Na_sulph_symp 265 529 1.9e-51 PFAM
low complexity region 536 554 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152284
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,938 (GRCm39) H48L probably damaging Het
Aifm3 A G 16: 17,318,653 (GRCm39) I185V probably benign Het
Asb7 A T 7: 66,309,984 (GRCm39) D77E probably damaging Het
Cacna1i T C 15: 80,239,959 (GRCm39) I336T probably damaging Het
Cadps2 A T 6: 23,323,333 (GRCm39) L1016* probably null Het
Cep63 C A 9: 102,473,354 (GRCm39) M504I probably benign Het
Chpf2 G T 5: 24,794,524 (GRCm39) L231F probably damaging Het
Cnot10 T C 9: 114,454,970 (GRCm39) Y221C probably damaging Het
Col3a1 G A 1: 45,381,365 (GRCm39) probably benign Het
Csl T C 10: 99,594,960 (GRCm39) D35G probably damaging Het
Csmd3 T C 15: 47,539,875 (GRCm39) Y2286C probably damaging Het
Dbt A G 3: 116,333,409 (GRCm39) E293G possibly damaging Het
Ddx31 T A 2: 28,737,525 (GRCm39) probably null Het
Dnm1 T C 2: 32,199,603 (GRCm39) probably benign Het
Elfn1 A G 5: 139,958,040 (GRCm39) Y348C probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epha5 T A 5: 84,254,569 (GRCm39) I657F probably damaging Het
Fbp1 A G 13: 63,012,824 (GRCm39) F123S possibly damaging Het
Hkdc1 T C 10: 62,229,481 (GRCm39) N732S probably damaging Het
Itfg1 A G 8: 86,462,780 (GRCm39) S448P probably benign Het
Itprid1 A G 6: 55,945,663 (GRCm39) R795G probably benign Het
Izumo2 A G 7: 44,358,498 (GRCm39) K84R probably benign Het
Kbtbd3 A G 9: 4,316,921 (GRCm39) Y24C probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Mdn1 T C 4: 32,773,308 (GRCm39) L5489P probably damaging Het
Mettl2 G A 11: 105,023,407 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Naglu A G 11: 100,968,177 (GRCm39) probably null Het
Nkx6-1 G T 5: 101,807,342 (GRCm39) H347N probably damaging Het
Ntpcr A G 8: 126,462,843 (GRCm39) E20G probably benign Het
Oas2 T C 5: 120,873,046 (GRCm39) R670G probably null Het
Or10h1 G A 17: 33,418,612 (GRCm39) V197I probably benign Het
Or2ag16 C G 7: 106,352,008 (GRCm39) E196Q probably benign Het
Or4p8 T C 2: 88,727,462 (GRCm39) I160V probably benign Het
Phldb2 A C 16: 45,595,356 (GRCm39) V902G probably benign Het
Rdh7 T C 10: 127,721,650 (GRCm39) R209G probably benign Het
Slc6a20b T A 9: 123,434,014 (GRCm39) I275F possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tmx4 T C 2: 134,462,559 (GRCm39) Y124C probably damaging Het
Trh A T 6: 92,219,824 (GRCm39) M164K possibly damaging Het
Trhr A G 15: 44,060,981 (GRCm39) N167S probably benign Het
Ttll7 G A 3: 146,637,337 (GRCm39) R490Q possibly damaging Het
Uck1 T C 2: 32,148,667 (GRCm39) N100S probably benign Het
Ucp3 A T 7: 100,129,476 (GRCm39) T104S probably benign Het
Vmn2r28 T A 7: 5,489,435 (GRCm39) H468L probably benign Het
Xaf1 G A 11: 72,199,464 (GRCm39) R67H probably benign Het
Ypel4 T C 2: 84,567,087 (GRCm39) probably benign Het
Zfp687 A G 3: 94,918,095 (GRCm39) I559T probably damaging Het
Other mutations in Slc13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Slc13a3 APN 2 165,253,843 (GRCm39) missense probably damaging 1.00
IGL00326:Slc13a3 APN 2 165,315,017 (GRCm39) missense possibly damaging 0.89
IGL01308:Slc13a3 APN 2 165,248,700 (GRCm39) missense probably damaging 0.99
IGL01668:Slc13a3 APN 2 165,272,212 (GRCm39) missense probably damaging 1.00
IGL02435:Slc13a3 APN 2 165,250,860 (GRCm39) missense possibly damaging 0.95
IGL02551:Slc13a3 APN 2 165,266,493 (GRCm39) missense probably damaging 1.00
IGL02716:Slc13a3 APN 2 165,248,635 (GRCm39) missense unknown
IGL03107:Slc13a3 APN 2 165,279,227 (GRCm39) missense probably benign 0.00
R0114:Slc13a3 UTSW 2 165,266,501 (GRCm39) missense probably damaging 1.00
R0624:Slc13a3 UTSW 2 165,253,807 (GRCm39) missense probably damaging 1.00
R1051:Slc13a3 UTSW 2 165,250,740 (GRCm39) critical splice donor site probably null
R1780:Slc13a3 UTSW 2 165,248,619 (GRCm39) missense unknown
R1782:Slc13a3 UTSW 2 165,287,439 (GRCm39) missense probably benign 0.01
R1994:Slc13a3 UTSW 2 165,275,984 (GRCm39) missense possibly damaging 0.90
R4739:Slc13a3 UTSW 2 165,272,209 (GRCm39) missense possibly damaging 0.91
R4971:Slc13a3 UTSW 2 165,290,619 (GRCm39) missense probably damaging 0.99
R5091:Slc13a3 UTSW 2 165,262,000 (GRCm39) missense probably benign 0.11
R5093:Slc13a3 UTSW 2 165,253,816 (GRCm39) missense probably damaging 1.00
R5826:Slc13a3 UTSW 2 165,250,876 (GRCm39) missense probably benign 0.05
R5894:Slc13a3 UTSW 2 165,266,543 (GRCm39) missense probably benign 0.00
R6239:Slc13a3 UTSW 2 165,248,617 (GRCm39) missense unknown
R6394:Slc13a3 UTSW 2 165,276,017 (GRCm39) missense probably damaging 1.00
R6453:Slc13a3 UTSW 2 165,253,867 (GRCm39) missense possibly damaging 0.94
R6480:Slc13a3 UTSW 2 165,250,818 (GRCm39) missense probably damaging 1.00
R6525:Slc13a3 UTSW 2 165,248,667 (GRCm39) missense unknown
R6879:Slc13a3 UTSW 2 165,272,221 (GRCm39) missense probably damaging 1.00
R7278:Slc13a3 UTSW 2 165,287,448 (GRCm39) missense possibly damaging 0.87
R7340:Slc13a3 UTSW 2 165,272,210 (GRCm39) missense probably benign 0.00
R7404:Slc13a3 UTSW 2 165,275,984 (GRCm39) missense possibly damaging 0.90
R7452:Slc13a3 UTSW 2 165,269,034 (GRCm39) missense probably benign 0.03
R7585:Slc13a3 UTSW 2 165,272,242 (GRCm39) missense probably benign 0.00
R7966:Slc13a3 UTSW 2 165,272,155 (GRCm39) missense probably benign 0.08
R8206:Slc13a3 UTSW 2 165,248,745 (GRCm39) missense probably damaging 1.00
R8481:Slc13a3 UTSW 2 165,275,958 (GRCm39) missense probably damaging 0.99
R8504:Slc13a3 UTSW 2 165,275,999 (GRCm39) missense probably damaging 0.99
R9488:Slc13a3 UTSW 2 165,250,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTACACTGAGAGCGCCC -3'
(R):5'- CCTGTTACAGGTTGCACTGAC -3'

Sequencing Primer
(F):5'- AGCTCTGGACGATTTGGAACTTCC -3'
(R):5'- AGGTTGCACTGACCTGAGG -3'
Posted On 2018-05-21