Incidental Mutation 'IGL02440:Slc12a3'
ID 293438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a3
Ensembl Gene ENSMUSG00000031766
Gene Name solute carrier family 12, member 3
Synonyms TSC, NCC
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02440
Quality Score
Status
Chromosome 8
Chromosomal Location 95055829-95092842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95058310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 152 (I152T)
Ref Sequence ENSEMBL: ENSMUSP00000148455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034218] [ENSMUST00000212134]
AlphaFold P59158
Predicted Effect probably damaging
Transcript: ENSMUST00000034218
AA Change: I152T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034218
Gene: ENSMUSG00000031766
AA Change: I152T

DomainStartEndE-ValueType
Pfam:AA_permease_N 43 114 1.5e-30 PFAM
Pfam:AA_permease 139 645 3.6e-145 PFAM
Pfam:SLC12 653 801 1.4e-53 PFAM
Pfam:SLC12 787 1001 2e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212041
Predicted Effect probably damaging
Transcript: ENSMUST00000212134
AA Change: I152T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212800
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,824,777 (GRCm39) probably benign Het
Bmt2 C T 6: 13,628,609 (GRCm39) R358Q probably damaging Het
C2cd6 A G 1: 59,114,259 (GRCm39) I182T probably benign Het
Calr3 T C 8: 73,185,276 (GRCm39) T100A probably benign Het
Cln3 T C 7: 126,181,954 (GRCm39) K36R probably benign Het
Ddx25 C T 9: 35,468,974 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,313,899 (GRCm39) V1677E probably damaging Het
Dnah10 A G 5: 124,850,883 (GRCm39) E1684G probably damaging Het
Dnah9 A G 11: 65,846,072 (GRCm39) S2989P probably damaging Het
F5 A T 1: 164,034,635 (GRCm39) T1845S possibly damaging Het
Folh1 G T 7: 86,383,312 (GRCm39) N478K probably benign Het
Gpr22 T C 12: 31,759,139 (GRCm39) I328V probably damaging Het
Itln1 C T 1: 171,359,097 (GRCm39) A128T probably benign Het
Itprid1 A G 6: 55,861,713 (GRCm39) T97A possibly damaging Het
Kank1 A G 19: 25,410,272 (GRCm39) K1322R probably damaging Het
Klhdc2 A G 12: 69,350,414 (GRCm39) Y153C probably damaging Het
Lonp2 T A 8: 87,350,813 (GRCm39) M1K probably null Het
Mtor T A 4: 148,630,886 (GRCm39) M2281K probably benign Het
Mtor T A 4: 148,576,104 (GRCm39) N1378K probably benign Het
Myo1e G A 9: 70,254,022 (GRCm39) R557H probably damaging Het
Nedd4l T C 18: 65,296,244 (GRCm39) probably null Het
Or2r3 T C 6: 42,449,100 (GRCm39) D4G probably benign Het
Or2t46 A T 11: 58,472,035 (GRCm39) M122L probably damaging Het
Or2z9 T A 8: 72,854,374 (GRCm39) F257I probably damaging Het
Or9i16 A T 19: 13,865,223 (GRCm39) M117K probably damaging Het
Pcdh18 T C 3: 49,699,052 (GRCm39) probably benign Het
Phldb1 T C 9: 44,626,700 (GRCm39) T582A probably damaging Het
Plxna2 A T 1: 194,428,458 (GRCm39) E509D probably benign Het
Poln A T 5: 34,286,474 (GRCm39) D231E probably damaging Het
Prex2 G A 1: 11,223,881 (GRCm39) R735Q possibly damaging Het
Prpf40b T C 15: 99,204,747 (GRCm39) S263P probably damaging Het
Sfmbt2 C T 2: 10,573,194 (GRCm39) A574V probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,145,293 (GRCm39) I391V probably benign Het
Tbx4 A G 11: 85,781,720 (GRCm39) E80G probably damaging Het
Vmn2r22 A G 6: 123,614,364 (GRCm39) Y409H probably benign Het
Zfp691 T G 4: 119,027,493 (GRCm39) R246S probably damaging Het
Zfp846 T C 9: 20,499,796 (GRCm39) probably benign Het
Other mutations in Slc12a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Slc12a3 APN 8 95,083,724 (GRCm39) missense probably benign 0.00
IGL01947:Slc12a3 APN 8 95,092,447 (GRCm39) critical splice acceptor site probably null
IGL02151:Slc12a3 APN 8 95,075,220 (GRCm39) missense probably benign 0.26
IGL03213:Slc12a3 APN 8 95,061,933 (GRCm39) missense possibly damaging 0.95
IGL03260:Slc12a3 APN 8 95,059,870 (GRCm39) missense probably damaging 1.00
IGL03306:Slc12a3 APN 8 95,078,386 (GRCm39) missense possibly damaging 0.72
IGL03329:Slc12a3 APN 8 95,092,519 (GRCm39) missense possibly damaging 0.67
avaricious UTSW 8 95,057,100 (GRCm39) missense probably benign 0.01
Pugilist UTSW 8 95,072,401 (GRCm39) critical splice acceptor site probably null
R0131:Slc12a3 UTSW 8 95,067,511 (GRCm39) splice site probably benign
R0189:Slc12a3 UTSW 8 95,082,986 (GRCm39) missense probably benign 0.30
R0330:Slc12a3 UTSW 8 95,072,974 (GRCm39) missense possibly damaging 0.75
R0569:Slc12a3 UTSW 8 95,057,153 (GRCm39) critical splice donor site probably null
R0715:Slc12a3 UTSW 8 95,056,061 (GRCm39) missense possibly damaging 0.75
R1248:Slc12a3 UTSW 8 95,059,905 (GRCm39) missense probably damaging 1.00
R1565:Slc12a3 UTSW 8 95,072,505 (GRCm39) missense possibly damaging 0.75
R2068:Slc12a3 UTSW 8 95,072,456 (GRCm39) missense probably damaging 1.00
R2108:Slc12a3 UTSW 8 95,067,158 (GRCm39) missense probably damaging 0.97
R2273:Slc12a3 UTSW 8 95,059,915 (GRCm39) missense possibly damaging 0.86
R2274:Slc12a3 UTSW 8 95,059,915 (GRCm39) missense possibly damaging 0.86
R2275:Slc12a3 UTSW 8 95,059,915 (GRCm39) missense possibly damaging 0.86
R2433:Slc12a3 UTSW 8 95,072,944 (GRCm39) missense probably benign 0.00
R3770:Slc12a3 UTSW 8 95,079,668 (GRCm39) missense probably benign
R4429:Slc12a3 UTSW 8 95,069,713 (GRCm39) missense probably damaging 1.00
R4431:Slc12a3 UTSW 8 95,069,713 (GRCm39) missense probably damaging 1.00
R4533:Slc12a3 UTSW 8 95,083,714 (GRCm39) missense probably null 0.02
R4627:Slc12a3 UTSW 8 95,056,012 (GRCm39) missense probably benign
R4856:Slc12a3 UTSW 8 95,078,438 (GRCm39) critical splice donor site probably null
R4886:Slc12a3 UTSW 8 95,078,438 (GRCm39) critical splice donor site probably null
R4908:Slc12a3 UTSW 8 95,075,216 (GRCm39) missense possibly damaging 0.76
R5054:Slc12a3 UTSW 8 95,072,979 (GRCm39) missense probably damaging 1.00
R5299:Slc12a3 UTSW 8 95,078,417 (GRCm39) missense probably damaging 1.00
R5451:Slc12a3 UTSW 8 95,083,655 (GRCm39) missense possibly damaging 0.61
R5590:Slc12a3 UTSW 8 95,072,416 (GRCm39) missense probably damaging 1.00
R5725:Slc12a3 UTSW 8 95,057,074 (GRCm39) missense probably benign 0.00
R6038:Slc12a3 UTSW 8 95,057,100 (GRCm39) missense probably benign 0.01
R6038:Slc12a3 UTSW 8 95,057,100 (GRCm39) missense probably benign 0.01
R6162:Slc12a3 UTSW 8 95,072,401 (GRCm39) critical splice acceptor site probably null
R6266:Slc12a3 UTSW 8 95,085,099 (GRCm39) missense possibly damaging 0.93
R6489:Slc12a3 UTSW 8 95,061,632 (GRCm39) missense possibly damaging 0.96
R6521:Slc12a3 UTSW 8 95,069,741 (GRCm39) missense possibly damaging 0.84
R6882:Slc12a3 UTSW 8 95,092,546 (GRCm39) missense possibly damaging 0.51
R7051:Slc12a3 UTSW 8 95,092,572 (GRCm39) missense probably damaging 1.00
R7510:Slc12a3 UTSW 8 95,092,477 (GRCm39) missense probably damaging 1.00
R7805:Slc12a3 UTSW 8 95,071,515 (GRCm39) missense probably damaging 1.00
R8152:Slc12a3 UTSW 8 95,057,012 (GRCm39) missense probably benign 0.00
R8412:Slc12a3 UTSW 8 95,060,695 (GRCm39) missense probably damaging 0.99
R8996:Slc12a3 UTSW 8 95,056,063 (GRCm39) missense probably benign
R9307:Slc12a3 UTSW 8 95,061,625 (GRCm39) missense probably benign 0.01
R9324:Slc12a3 UTSW 8 95,083,028 (GRCm39) critical splice donor site probably null
R9515:Slc12a3 UTSW 8 95,083,658 (GRCm39) missense possibly damaging 0.79
R9564:Slc12a3 UTSW 8 95,082,983 (GRCm39) missense probably benign 0.00
R9687:Slc12a3 UTSW 8 95,075,208 (GRCm39) missense possibly damaging 0.85
Posted On 2015-04-16