Incidental Mutation 'R5770:Slc16a5'
ID 446513
Institutional Source Beutler Lab
Gene Symbol Slc16a5
Ensembl Gene ENSMUSG00000045775
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 5
Synonyms MCT5, A130015N09Rik
MMRRC Submission 043370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5770 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115353300-115365224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115363604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 422 (K422E)
Ref Sequence ENSEMBL: ENSMUSP00000090102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035240] [ENSMUST00000092445] [ENSMUST00000106532] [ENSMUST00000153466]
AlphaFold G5E8K6
Predicted Effect probably benign
Transcript: ENSMUST00000035240
SMART Domains Protein: ENSMUSP00000046120
Gene: ENSMUSG00000057219

DomainStartEndE-ValueType
Pfam:Arm 87 127 4.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092445
AA Change: K422E

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090102
Gene: ENSMUSG00000045775
AA Change: K422E

DomainStartEndE-ValueType
Pfam:MFS_1 15 303 5.9e-31 PFAM
Pfam:MFS_1 302 459 6.2e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000106532
AA Change: K103E
SMART Domains Protein: ENSMUSP00000102142
Gene: ENSMUSG00000045775
AA Change: K103E

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146500
Predicted Effect probably benign
Transcript: ENSMUST00000153466
SMART Domains Protein: ENSMUSP00000117727
Gene: ENSMUSG00000045775

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Meta Mutation Damage Score 0.1609 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,865,460 (GRCm39) noncoding transcript Het
Abhd8 A G 8: 71,909,972 (GRCm39) V392A probably benign Het
Alpk3 A G 7: 80,728,310 (GRCm39) E480G probably benign Het
Ankfy1 C G 11: 72,651,082 (GRCm39) H1011D probably damaging Het
Aoc3 T G 11: 101,222,578 (GRCm39) Y271* probably null Het
Bcl9 T C 3: 97,122,491 (GRCm39) I103V probably benign Het
Cgnl1 C T 9: 71,552,769 (GRCm39) probably null Het
Cyp2c23 T A 19: 44,010,018 (GRCm39) D109V probably damaging Het
Cyp2j13 A T 4: 95,965,669 (GRCm39) W13R probably benign Het
D630003M21Rik T C 2: 158,037,500 (GRCm39) probably benign Het
Desi2 A T 1: 178,084,061 (GRCm39) probably benign Het
Dll3 T C 7: 27,998,434 (GRCm39) E177G possibly damaging Het
Ern2 C T 7: 121,779,130 (GRCm39) G238D possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm6133 A G 18: 78,393,464 (GRCm39) K153E probably benign Het
Gpr68 A T 12: 100,845,080 (GRCm39) Y155N probably benign Het
Hcrtr2 T A 9: 76,166,948 (GRCm39) I130F probably damaging Het
Hk1 T C 10: 62,122,228 (GRCm39) K489R probably benign Het
Ints13 T C 6: 146,456,571 (GRCm39) N425S probably damaging Het
Itpkc T C 7: 26,912,413 (GRCm39) D578G probably damaging Het
Kcns3 A G 12: 11,142,250 (GRCm39) S150P probably benign Het
Khdrbs3 T A 15: 68,921,312 (GRCm39) probably null Het
Kif11 A G 19: 37,379,313 (GRCm39) I335V probably benign Het
Lrrn4 C G 2: 132,714,076 (GRCm39) C290S probably damaging Het
Macrod2 T C 2: 141,074,102 (GRCm39) probably benign Het
Mgam A G 6: 40,646,738 (GRCm39) N688S probably benign Het
Myh8 G A 11: 67,188,026 (GRCm39) E933K probably damaging Het
Nat8f5 T C 6: 85,794,657 (GRCm39) Y101C probably damaging Het
Nhlrc1 A G 13: 47,168,188 (GRCm39) V23A probably benign Het
Nkx2-3 T A 19: 43,602,972 (GRCm39) F193I probably damaging Het
Nlrp4b T A 7: 10,449,414 (GRCm39) V172E probably benign Het
Nmrk1 G T 19: 18,622,438 (GRCm39) R172S probably benign Het
Nudcd3 T C 11: 6,063,286 (GRCm39) D201G probably damaging Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or10g9b C T 9: 39,917,634 (GRCm39) V204I probably benign Het
Or13a18 A G 7: 140,190,856 (GRCm39) Y259C probably damaging Het
Or2t44 G A 11: 58,677,420 (GRCm39) R120H probably benign Het
Or2y14 A G 11: 49,405,419 (GRCm39) E318G unknown Het
Or4c12b T A 2: 89,646,893 (GRCm39) D68E probably damaging Het
Or56a3 A T 7: 104,740,102 (GRCm39) I248N probably damaging Het
Or5ac23 A T 16: 59,149,514 (GRCm39) Y119* probably null Het
Pcdh15 T A 10: 74,021,177 (GRCm39) Y130* probably null Het
Pcdh9 G A 14: 94,124,379 (GRCm39) T597I probably damaging Het
Pcdhb19 A G 18: 37,631,090 (GRCm39) N295S possibly damaging Het
Pcnx3 T C 19: 5,731,607 (GRCm39) probably benign Het
Pdzph1 A T 17: 59,186,146 (GRCm39) I1215N probably damaging Het
Phf21a C T 2: 92,182,199 (GRCm39) T405I possibly damaging Het
Pkd1l2 C A 8: 117,781,757 (GRCm39) G763W probably damaging Het
Prox2 A G 12: 85,134,154 (GRCm39) F591L probably benign Het
Robo3 T A 9: 37,330,497 (GRCm39) H1033L possibly damaging Het
Sdha A T 13: 74,471,239 (GRCm39) C222* probably null Het
Sec16a T C 2: 26,304,402 (GRCm39) D2303G probably damaging Het
Shoc1 T C 4: 59,092,466 (GRCm39) I238M probably benign Het
Slc22a30 A T 19: 8,363,891 (GRCm39) M232K probably damaging Het
Slc35b3 A T 13: 39,121,734 (GRCm39) F300I probably damaging Het
Spata2l A G 8: 123,962,459 (GRCm39) V34A probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tecta T A 9: 42,256,885 (GRCm39) Q1597L possibly damaging Het
Tgfb1i1 A T 7: 127,847,719 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,807 (GRCm39) T234A probably benign Het
Usp20 A G 2: 30,907,520 (GRCm39) Y684C probably damaging Het
Zc3h4 T A 7: 16,163,536 (GRCm39) M585K unknown Het
Zfp292 A G 4: 34,806,747 (GRCm39) I2099T probably damaging Het
Other mutations in Slc16a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Slc16a5 APN 11 115,355,827 (GRCm39) missense probably benign
IGL02190:Slc16a5 APN 11 115,353,435 (GRCm39) start codon destroyed probably null 1.00
IGL02852:Slc16a5 APN 11 115,360,405 (GRCm39) missense probably benign 0.03
IGL02942:Slc16a5 APN 11 115,360,176 (GRCm39) missense possibly damaging 0.50
R0090:Slc16a5 UTSW 11 115,355,751 (GRCm39) missense probably damaging 1.00
R1928:Slc16a5 UTSW 11 115,360,842 (GRCm39) missense probably damaging 0.98
R1930:Slc16a5 UTSW 11 115,360,194 (GRCm39) missense probably damaging 0.99
R1931:Slc16a5 UTSW 11 115,360,194 (GRCm39) missense probably damaging 0.99
R5255:Slc16a5 UTSW 11 115,353,501 (GRCm39) missense probably benign 0.13
R5548:Slc16a5 UTSW 11 115,360,630 (GRCm39) missense probably benign 0.32
R5592:Slc16a5 UTSW 11 115,363,608 (GRCm39) missense probably benign 0.05
R8381:Slc16a5 UTSW 11 115,360,716 (GRCm39) missense probably benign
R8560:Slc16a5 UTSW 11 115,360,545 (GRCm39) missense probably benign 0.00
R9487:Slc16a5 UTSW 11 115,360,738 (GRCm39) missense possibly damaging 0.95
Z1176:Slc16a5 UTSW 11 115,360,198 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCAGCCATGATTTCCTATTG -3'
(R):5'- AGGTCACATGGGATCTCTGG -3'

Sequencing Primer
(F):5'- TCCTTGAACGCATGAGCTG -3'
(R):5'- CACATGGGATCTCTGGAGTTCAGAC -3'
Posted On 2016-11-21