Incidental Mutation 'R8206:Slc13a3'
ID 635899
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 067629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 165247215-165315117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 165248745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 553 (G553D)
Ref Sequence ENSEMBL: ENSMUSP00000029208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
AlphaFold Q91Y63
Predicted Effect probably damaging
Transcript: ENSMUST00000029208
AA Change: G553D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: G553D

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: G511D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: G511D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null 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
R6463:Slc13a3 UTSW 2 165,287,573 (GRCm39) missense probably damaging 1.00
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
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'- TTGATCAGCTTGGAGGCTCCTAG -3'
(R):5'- CTGGGAAACATCTGTGGCCTAC -3'

Sequencing Primer
(F):5'- TGACAGCAACAGCCTTCTGGAG -3'
(R):5'- ACACTTGTGGCTGGCTC -3'
Posted On 2020-07-13