Incidental Mutation 'R7135:Slc5a12'
ID 552976
Institutional Source Beutler Lab
Gene Symbol Slc5a12
Ensembl Gene ENSMUSG00000041644
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 12
Synonyms SMCT2
MMRRC Submission 045247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R7135 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 110427643-110478124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110447059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 189 (M189K)
Ref Sequence ENSEMBL: ENSMUSP00000047340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045972] [ENSMUST00000111026]
AlphaFold Q49B93
Predicted Effect possibly damaging
Transcript: ENSMUST00000045972
AA Change: M189K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: M189K

DomainStartEndE-ValueType
Pfam:SSF 41 449 6.5e-43 PFAM
transmembrane domain 507 529 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111026
AA Change: M189K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: M189K

DomainStartEndE-ValueType
Pfam:SSF 41 445 6.2e-48 PFAM
transmembrane domain 503 525 N/A INTRINSIC
Meta Mutation Damage Score 0.3751 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (83/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,887 (GRCm39) Y221* probably null Het
AC166344.1 T A 14: 43,158,245 (GRCm39) F97I Het
Ankmy2 T C 12: 36,246,311 (GRCm39) S412P probably benign Het
Ap1s3 T C 1: 79,586,919 (GRCm39) T144A probably benign Het
Armh2 T C 13: 24,925,489 (GRCm39) S78P probably benign Het
Asb3 T A 11: 30,948,501 (GRCm39) L59* probably null Het
Asxl3 G T 18: 22,650,758 (GRCm39) G916* probably null Het
Asxl3 G C 18: 22,650,759 (GRCm39) G916A probably damaging Het
Birc2 A C 9: 7,818,762 (GRCm39) F610V probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccdc162 A G 10: 41,549,855 (GRCm39) S343P probably benign Het
Ccnk T A 12: 108,152,734 (GRCm39) L17Q probably damaging Het
Cd59b G A 2: 103,914,792 (GRCm39) W63* probably null Het
Chrm3 C T 13: 9,927,837 (GRCm39) V400I probably benign Het
Crb1 C A 1: 139,171,105 (GRCm39) V762F probably damaging Het
Cspp1 C T 1: 10,159,161 (GRCm39) T529I possibly damaging Het
Cttnbp2 A G 6: 18,448,446 (GRCm39) I71T possibly damaging Het
Cyb561 C A 11: 105,826,393 (GRCm39) G90V probably damaging Het
Cyld T A 8: 89,471,520 (GRCm39) D804E possibly damaging Het
Ddx31 G A 2: 28,738,318 (GRCm39) V160I probably benign Het
Dgkg T C 16: 22,319,132 (GRCm39) D643G probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 T G 14: 26,523,370 (GRCm39) I1953S probably damaging Het
Dnah7b T C 1: 46,178,870 (GRCm39) W848R probably damaging Het
Dnah7c C T 1: 46,572,368 (GRCm39) T947M probably damaging Het
Dnmt3c C A 2: 153,556,872 (GRCm39) probably null Het
Dsp A T 13: 38,363,049 (GRCm39) Y443F probably damaging Het
Espl1 T A 15: 102,227,959 (GRCm39) C1603* probably null Het
Faiml G T 9: 99,116,496 (GRCm39) R65S probably benign Het
Gfpt2 T C 11: 49,695,782 (GRCm39) I4T probably damaging Het
Gm10376 T A 14: 42,867,950 (GRCm39) M179L probably benign Het
Gm4302 T A 10: 100,177,589 (GRCm39) M291K unknown Het
Gnb1l T A 16: 18,363,918 (GRCm39) D154E probably benign Het
Igkv10-94 T C 6: 68,681,727 (GRCm39) R38G possibly damaging Het
Inmt A T 6: 55,148,013 (GRCm39) Y205* probably null Het
Krba1 A G 6: 48,393,233 (GRCm39) Q1049R probably benign Het
Lpxn T A 19: 12,810,683 (GRCm39) C376S probably damaging Het
Lrrc52 T A 1: 167,294,019 (GRCm39) I89F probably damaging Het
Map9 A T 3: 82,270,765 (GRCm39) T110S probably benign Het
Mccc1 T C 3: 36,049,967 (GRCm39) Y75C probably damaging Het
Mff T A 1: 82,724,812 (GRCm39) L203* probably null Het
Micall1 C A 15: 78,993,624 (GRCm39) D47E unknown Het
Mink1 T C 11: 70,494,329 (GRCm39) F243S probably damaging Het
Mlycd C T 8: 120,129,216 (GRCm39) R228W probably damaging Het
Msr1 A T 8: 40,042,465 (GRCm39) V370E possibly damaging Het
Naip6 T C 13: 100,436,927 (GRCm39) E532G probably damaging Het
Nepn G A 10: 52,267,815 (GRCm39) C27Y probably damaging Het
Ninl T C 2: 150,797,524 (GRCm39) H592R probably benign Het
Nr4a2 A G 2: 57,002,261 (GRCm39) M64T possibly damaging Het
Oprm1 A T 10: 6,780,203 (GRCm39) I171F possibly damaging Het
Or4g16 T A 2: 111,137,365 (GRCm39) F272I probably benign Het
Or5p60 T C 7: 107,723,781 (GRCm39) K230E probably damaging Het
Pcbp1 A T 6: 86,502,488 (GRCm39) M137K possibly damaging Het
Pcf11 A T 7: 92,306,524 (GRCm39) S1215T probably benign Het
Pdlim5 A T 3: 142,017,683 (GRCm39) probably null Het
Pecam1 T C 11: 106,579,857 (GRCm39) I402V probably damaging Het
Pex12 T C 11: 83,188,468 (GRCm39) T176A probably benign Het
Phf3 T C 1: 30,870,190 (GRCm39) K286R possibly damaging Het
Pik3ap1 T A 19: 41,320,760 (GRCm39) D153V probably damaging Het
Pkhd1l1 T A 15: 44,448,374 (GRCm39) probably null Het
Plekhn1 A G 4: 156,307,792 (GRCm39) V378A probably benign Het
Pramel26 A T 4: 143,537,233 (GRCm39) L366Q probably damaging Het
Ptprm A T 17: 67,251,283 (GRCm39) D531E possibly damaging Het
Pum2 A T 12: 8,778,952 (GRCm39) Q508L possibly damaging Het
Rad54l A G 4: 115,963,027 (GRCm39) S324P probably damaging Het
Recql5 C T 11: 115,821,498 (GRCm39) probably null Het
Reln A T 5: 22,181,594 (GRCm39) V1763D possibly damaging Het
Rp1 T C 1: 4,418,391 (GRCm39) N907S possibly damaging Het
Scaf11 T A 15: 96,318,209 (GRCm39) N452Y possibly damaging Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Sim1 A G 10: 50,772,023 (GRCm39) T11A probably damaging Het
Slco2b1 C T 7: 99,344,270 (GRCm39) G10S probably null Het
Speer1j C T 5: 11,555,198 (GRCm39) P83S probably damaging Het
Stxbp3 A G 3: 108,708,071 (GRCm39) L410P probably damaging Het
Sugct T C 13: 17,476,594 (GRCm39) N297D probably benign Het
Syne1 A G 10: 5,183,409 (GRCm39) I4132T probably benign Het
Teddm1b A T 1: 153,750,912 (GRCm39) L240F probably damaging Het
Tlr5 C A 1: 182,803,088 (GRCm39) D797E possibly damaging Het
Tmprss13 G T 9: 45,249,643 (GRCm39) G327C probably damaging Het
Tnrc18 G T 5: 142,773,572 (GRCm39) A419D Het
Ttc28 T C 5: 111,427,873 (GRCm39) Y1790H probably damaging Het
Vmn1r125 T G 7: 21,006,327 (GRCm39) M75R probably damaging Het
Vwa3a T A 7: 120,372,253 (GRCm39) D276E possibly damaging Het
Wdfy3 C T 5: 102,063,303 (GRCm39) V1322M probably damaging Het
Wdr11 T C 7: 129,229,830 (GRCm39) S872P possibly damaging Het
Zc3h13 T C 14: 75,559,161 (GRCm39) S357P unknown Het
Other mutations in Slc5a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Slc5a12 APN 2 110,428,167 (GRCm39) missense probably damaging 1.00
IGL01337:Slc5a12 APN 2 110,450,718 (GRCm39) nonsense probably null
IGL01830:Slc5a12 APN 2 110,428,151 (GRCm39) missense probably damaging 1.00
IGL02456:Slc5a12 APN 2 110,447,179 (GRCm39) splice site probably benign
IGL02619:Slc5a12 APN 2 110,471,201 (GRCm39) missense probably benign 0.00
IGL02832:Slc5a12 APN 2 110,471,160 (GRCm39) missense probably benign
IGL02890:Slc5a12 APN 2 110,454,478 (GRCm39) splice site probably benign
IGL03058:Slc5a12 APN 2 110,471,137 (GRCm39) missense probably benign 0.23
R0607:Slc5a12 UTSW 2 110,463,088 (GRCm39) missense probably benign 0.30
R1342:Slc5a12 UTSW 2 110,447,435 (GRCm39) splice site probably null
R1532:Slc5a12 UTSW 2 110,440,483 (GRCm39) missense possibly damaging 0.64
R1992:Slc5a12 UTSW 2 110,452,089 (GRCm39) missense probably benign 0.04
R2354:Slc5a12 UTSW 2 110,439,777 (GRCm39) missense probably damaging 0.97
R3830:Slc5a12 UTSW 2 110,463,081 (GRCm39) nonsense probably null
R4728:Slc5a12 UTSW 2 110,474,769 (GRCm39) nonsense probably null
R4822:Slc5a12 UTSW 2 110,452,085 (GRCm39) missense possibly damaging 0.90
R4937:Slc5a12 UTSW 2 110,450,753 (GRCm39) missense probably damaging 1.00
R5860:Slc5a12 UTSW 2 110,427,969 (GRCm39) missense probably benign 0.30
R6075:Slc5a12 UTSW 2 110,447,092 (GRCm39) missense probably damaging 1.00
R6168:Slc5a12 UTSW 2 110,447,089 (GRCm39) missense probably damaging 1.00
R6853:Slc5a12 UTSW 2 110,454,539 (GRCm39) missense probably benign 0.37
R6870:Slc5a12 UTSW 2 110,472,155 (GRCm39) missense probably damaging 0.99
R7014:Slc5a12 UTSW 2 110,474,709 (GRCm39) missense probably benign 0.00
R8936:Slc5a12 UTSW 2 110,467,455 (GRCm39) missense probably damaging 1.00
R9000:Slc5a12 UTSW 2 110,454,525 (GRCm39) missense probably damaging 1.00
R9145:Slc5a12 UTSW 2 110,471,242 (GRCm39) missense probably benign 0.21
R9362:Slc5a12 UTSW 2 110,447,044 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGCCCTTTAAAAGATGCTC -3'
(R):5'- AGGATCTACATCAAAGCTAGGACAC -3'

Sequencing Primer
(F):5'- CTCAGTAACAGGTCAGAATGAGTTCC -3'
(R):5'- CCCTGCTTATATCACTTTATAAAGCC -3'
Posted On 2019-05-15