Incidental Mutation 'R3418:Slc13a2'
ID 266920
Institutional Source Beutler Lab
Gene Symbol Slc13a2
Ensembl Gene ENSMUSG00000001095
Gene Name solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
Synonyms sodium/dicarboxylate co-transporter, mNaDC-1, Nadc1
MMRRC Submission 040636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3418 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78288102-78313107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78291666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 329 (F329S)
Ref Sequence ENSEMBL: ENSMUSP00000001122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001122]
AlphaFold Q9ES88
Predicted Effect probably benign
Transcript: ENSMUST00000001122
AA Change: F329S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: F329S

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 6 560 7.1e-161 PFAM
Pfam:CitMHS 45 164 3e-15 PFAM
Pfam:CitMHS 203 499 1.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149865
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (61/62)
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 sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Kreb cycle intermediates in the urine but otherwise have normal kidney function and response to ischemia-reperfusion injury and caloric restriction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Acaa1a A G 9: 119,178,556 (GRCm39) probably null Het
Agbl5 T C 5: 31,062,067 (GRCm39) S756P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Cdc16 C T 8: 13,819,489 (GRCm39) Q362* probably null Het
Cdh5 C T 8: 104,856,002 (GRCm39) R312C probably damaging Het
Cep170b C T 12: 112,704,902 (GRCm39) Q887* probably null Het
Chd9 T C 8: 91,763,219 (GRCm39) I2348T probably damaging Het
Clec9a A G 6: 129,398,001 (GRCm39) probably benign Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
D130040H23Rik T C 8: 69,755,579 (GRCm39) I328T probably benign Het
Dido1 G T 2: 180,302,728 (GRCm39) D1725E possibly damaging Het
Dnajb14 A G 3: 137,598,631 (GRCm39) D123G probably null Het
Dock2 A T 11: 34,580,587 (GRCm39) M661K probably damaging Het
Esam C T 9: 37,448,426 (GRCm39) probably null Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fat2 G T 11: 55,169,824 (GRCm39) H2978Q probably benign Het
Fbn1 T C 2: 125,162,846 (GRCm39) T2147A possibly damaging Het
Fdft1 T C 14: 63,394,070 (GRCm39) T214A probably damaging Het
Fhl5 T C 4: 25,211,252 (GRCm39) S147G probably benign Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gcat A T 15: 78,926,297 (GRCm39) T56S possibly damaging Het
Gemin5 A T 11: 58,047,454 (GRCm39) probably null Het
Gm4736 A T 6: 132,092,640 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,820,108 (GRCm39) N368S probably benign Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Htr1f G A 16: 64,746,260 (GRCm39) P344L probably damaging Het
Ighv7-3 T A 12: 114,116,919 (GRCm39) Y81F probably damaging Het
Jakmip3 C A 7: 138,619,474 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Khdrbs3 T C 15: 68,921,224 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Myom2 T G 8: 15,135,294 (GRCm39) I499S probably benign Het
Nos2 T A 11: 78,850,521 (GRCm39) F1126L possibly damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pou6f1 C A 15: 100,478,805 (GRCm39) V368L probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rbm45 A G 2: 76,209,362 (GRCm39) E392G probably damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Rnf222 G T 11: 68,783,982 (GRCm39) R183L probably damaging Het
Robo1 C T 16: 72,832,805 (GRCm39) T1526I probably benign Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Smc2 T C 4: 52,476,850 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,446 (GRCm39) probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tdrd1 T A 19: 56,819,663 (GRCm39) N54K possibly damaging Het
Tgfbr2 T C 9: 115,958,901 (GRCm39) Y146C probably damaging Het
Tnfrsf11a A G 1: 105,737,130 (GRCm39) D79G possibly damaging Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Ubn1 A G 16: 4,892,243 (GRCm39) probably benign Het
Ubp1 T C 9: 113,780,754 (GRCm39) probably null Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign Het
Other mutations in Slc13a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Slc13a2 APN 11 78,291,374 (GRCm39) missense probably damaging 1.00
IGL01604:Slc13a2 APN 11 78,294,221 (GRCm39) missense possibly damaging 0.82
IGL01679:Slc13a2 APN 11 78,295,537 (GRCm39) missense probably damaging 1.00
IGL03100:Slc13a2 APN 11 78,295,299 (GRCm39) missense probably damaging 1.00
IGL03380:Slc13a2 APN 11 78,289,908 (GRCm39) missense probably benign 0.03
deliberate UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
Familiaris UTSW 11 78,295,621 (GRCm39) missense probably damaging 1.00
intentional UTSW 11 78,295,534 (GRCm39) missense probably damaging 1.00
R0085:Slc13a2 UTSW 11 78,297,694 (GRCm39) missense probably damaging 0.96
R0324:Slc13a2 UTSW 11 78,295,350 (GRCm39) missense probably damaging 1.00
R0368:Slc13a2 UTSW 11 78,295,626 (GRCm39) nonsense probably null
R0440:Slc13a2 UTSW 11 78,294,001 (GRCm39) missense probably benign 0.05
R0539:Slc13a2 UTSW 11 78,289,964 (GRCm39) missense probably damaging 1.00
R1519:Slc13a2 UTSW 11 78,288,572 (GRCm39) missense possibly damaging 0.59
R1550:Slc13a2 UTSW 11 78,293,990 (GRCm39) missense probably damaging 1.00
R1909:Slc13a2 UTSW 11 78,290,968 (GRCm39) missense possibly damaging 0.90
R2166:Slc13a2 UTSW 11 78,293,901 (GRCm39) missense probably benign 0.16
R2994:Slc13a2 UTSW 11 78,295,563 (GRCm39) missense probably damaging 1.00
R2998:Slc13a2 UTSW 11 78,295,611 (GRCm39) missense probably damaging 0.99
R3932:Slc13a2 UTSW 11 78,289,226 (GRCm39) missense probably damaging 1.00
R4233:Slc13a2 UTSW 11 78,294,361 (GRCm39) intron probably benign
R4462:Slc13a2 UTSW 11 78,295,213 (GRCm39) missense probably benign 0.44
R5014:Slc13a2 UTSW 11 78,290,987 (GRCm39) missense possibly damaging 0.73
R5170:Slc13a2 UTSW 11 78,291,634 (GRCm39) missense probably damaging 1.00
R5484:Slc13a2 UTSW 11 78,295,648 (GRCm39) splice site probably benign
R5809:Slc13a2 UTSW 11 78,288,647 (GRCm39) missense probably damaging 1.00
R5973:Slc13a2 UTSW 11 78,291,358 (GRCm39) missense probably damaging 0.99
R6243:Slc13a2 UTSW 11 78,295,534 (GRCm39) missense probably damaging 1.00
R6263:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6275:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6276:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6279:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6280:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6300:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6305:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6314:Slc13a2 UTSW 11 78,294,306 (GRCm39) critical splice acceptor site probably benign
R6673:Slc13a2 UTSW 11 78,288,657 (GRCm39) missense probably benign 0.12
R7138:Slc13a2 UTSW 11 78,289,950 (GRCm39) missense possibly damaging 0.76
R7382:Slc13a2 UTSW 11 78,295,621 (GRCm39) missense probably damaging 1.00
R7657:Slc13a2 UTSW 11 78,289,223 (GRCm39) missense probably damaging 0.99
R7791:Slc13a2 UTSW 11 78,312,890 (GRCm39) critical splice donor site probably null
R8027:Slc13a2 UTSW 11 78,295,582 (GRCm39) missense probably benign 0.00
R9091:Slc13a2 UTSW 11 78,295,258 (GRCm39) missense probably damaging 1.00
R9270:Slc13a2 UTSW 11 78,295,258 (GRCm39) missense probably damaging 1.00
R9484:Slc13a2 UTSW 11 78,294,233 (GRCm39) missense probably damaging 0.97
R9501:Slc13a2 UTSW 11 78,291,633 (GRCm39) missense probably damaging 1.00
R9783:Slc13a2 UTSW 11 78,294,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCATCTGATACCATGCTGTG -3'
(R):5'- GACATTAGGGCTTGCCCATG -3'

Sequencing Primer
(F):5'- ACAGAGAAGGGTCCCTCC -3'
(R):5'- GCCTGGTGCAGAGCCTTTATAC -3'
Posted On 2015-02-18