Incidental Mutation 'R5170:Slc13a2'
ID 397516
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 042750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5170 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78288102-78313107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78291634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 340 (T340A)
Ref Sequence ENSEMBL: ENSMUSP00000001122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001122]
AlphaFold Q9ES88
Predicted Effect probably damaging
Transcript: ENSMUST00000001122
AA Change: T340A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: T340A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,745,969 (GRCm39) I51V probably benign Het
Agbl2 A G 2: 90,633,541 (GRCm39) K559R probably benign Het
Arhgap30 A G 1: 171,235,618 (GRCm39) D664G probably benign Het
BC034090 A G 1: 155,089,396 (GRCm39) V798A probably damaging Het
Bdp1 A T 13: 100,167,302 (GRCm39) C2237* probably null Het
C3 C T 17: 57,530,938 (GRCm39) V388M probably damaging Het
Ccdc170 G A 10: 4,464,200 (GRCm39) E60K probably damaging Het
Cdh8 G A 8: 100,006,182 (GRCm39) T135M probably damaging Het
Cep131 G T 11: 119,961,435 (GRCm39) A572E probably damaging Het
Clec16a A G 16: 10,559,655 (GRCm39) Y976C probably benign Het
Cplx3 G A 9: 57,522,902 (GRCm39) R153* probably null Het
Defa41 A T 8: 21,691,696 (GRCm39) D26V probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Eno3 A G 11: 70,553,040 (GRCm39) I393V probably benign Het
Fbxo47 A G 11: 97,748,520 (GRCm39) V305A probably benign Het
Fry G A 5: 150,353,319 (GRCm39) V1779M probably benign Het
Gtse1 T C 15: 85,748,465 (GRCm39) probably null Het
Gucy2e A T 11: 69,126,396 (GRCm39) L328Q probably damaging Het
Ifi207 T C 1: 173,558,064 (GRCm39) T225A unknown Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lamc3 A T 2: 31,777,356 (GRCm39) M1L probably benign Het
Myo16 A G 8: 10,619,745 (GRCm39) D1432G probably benign Het
Nwd2 A T 5: 63,963,380 (GRCm39) N988I probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp14 T C 16: 35,677,649 (GRCm39) E773G probably benign Het
Psen1 T A 12: 83,761,636 (GRCm39) M146K probably damaging Het
Ptx4 G A 17: 25,342,152 (GRCm39) R209Q probably benign Het
St8sia1 T C 6: 142,909,434 (GRCm39) K21E probably damaging Het
Stxbp1 T C 2: 32,684,686 (GRCm39) D581G probably benign Het
Sumo2 G A 11: 115,425,486 (GRCm39) probably benign Het
Supt5 G A 7: 28,015,508 (GRCm39) P910S probably benign Het
Tbc1d30 T C 10: 121,142,743 (GRCm39) Q158R possibly damaging Het
Tenm2 T A 11: 35,915,633 (GRCm39) H1968L probably damaging Het
Trmt1 T C 8: 85,421,861 (GRCm39) Y220H probably damaging Het
Trp73 C T 4: 154,189,295 (GRCm39) E60K possibly damaging Het
Ttn A G 2: 76,617,413 (GRCm39) Y8026H probably damaging Het
Zar1l A G 5: 150,441,050 (GRCm39) probably null Het
Zfp740 T C 15: 102,117,640 (GRCm39) Y117H probably damaging Het
Zfp941 G A 7: 140,392,870 (GRCm39) probably benign Het
Zp1 C A 19: 10,897,918 (GRCm39) V8F possibly damaging 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
R3418:Slc13a2 UTSW 11 78,291,666 (GRCm39) missense probably benign 0.05
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
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'- TCCCATCTGATACCATGCTGTG -3'
(R):5'- AGAGCCTTTATACACTGTCCCTG -3'

Sequencing Primer
(F):5'- ACAGAGAAGGGTCCCTCC -3'
(R):5'- ATACACTGTCCCTGCCTCTG -3'
Posted On 2016-07-06