Incidental Mutation 'IGL02151:Slc12a3'
ID 281995
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 # IGL02151
Quality Score
Status
Chromosome 8
Chromosomal Location 95055829-95092842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95075220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 738 (V738G)
Ref Sequence ENSEMBL: ENSMUSP00000148455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034218] [ENSMUST00000212134]
AlphaFold P59158
Predicted Effect probably benign
Transcript: ENSMUST00000034218
AA Change: V738G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034218
Gene: ENSMUSG00000031766
AA Change: V738G

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 benign
Transcript: ENSMUST00000212134
AA Change: V738G

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212915
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 50,136,484 (GRCm39) T667N probably benign Het
Aff4 T C 11: 53,290,633 (GRCm39) I531T probably benign Het
Akap9 C T 5: 4,082,728 (GRCm39) Q1951* probably null Het
Arhgef10 C T 8: 14,978,889 (GRCm39) T52M possibly damaging Het
Atg2a A G 19: 6,305,787 (GRCm39) E1132G possibly damaging Het
AW551984 A C 9: 39,504,241 (GRCm39) I575S probably benign Het
Cfap299 C T 5: 98,477,301 (GRCm39) T24M probably damaging Het
Cog7 T C 7: 121,543,031 (GRCm39) E460G probably damaging Het
Ctse A G 1: 131,600,273 (GRCm39) I341V probably benign Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Dcxr T A 11: 120,616,809 (GRCm39) M158L probably benign Het
Dnah11 A T 12: 118,023,623 (GRCm39) probably benign Het
Dnah7a T A 1: 53,512,023 (GRCm39) I3013F probably benign Het
Dnah8 A G 17: 30,867,391 (GRCm39) D281G possibly damaging Het
Dpysl3 G A 18: 43,491,365 (GRCm39) H136Y probably damaging Het
Eaf1 C T 14: 31,219,744 (GRCm39) T61M probably damaging Het
Fmnl1 A G 11: 103,083,598 (GRCm39) T441A probably benign Het
Hmgcll1 C T 9: 75,988,720 (GRCm39) P197L probably benign Het
Kdm4b T C 17: 56,703,234 (GRCm39) V643A probably benign Het
Lrch2 A G X: 146,336,716 (GRCm39) F111L possibly damaging Het
Macf1 A T 4: 123,265,559 (GRCm39) probably benign Het
Mfsd4b2 T C 10: 39,797,687 (GRCm39) N223D probably damaging Het
Mug1 G A 6: 121,861,649 (GRCm39) probably null Het
Nek7 A T 1: 138,414,838 (GRCm39) L270Q probably damaging Het
Nexn T A 3: 151,953,881 (GRCm39) D127V probably damaging Het
Nxf3 A G X: 134,980,322 (GRCm39) F130S probably damaging Het
Or11a4 T A 17: 37,536,057 (GRCm39) F14I probably damaging Het
Or52ac1 A G 7: 104,245,741 (GRCm39) S216P probably damaging Het
Pcdhb16 G A 18: 37,611,411 (GRCm39) V124I possibly damaging Het
Podxl T C 6: 31,501,394 (GRCm39) D387G possibly damaging Het
Prp2rt T A 13: 97,235,682 (GRCm39) T22S probably null Het
Rab3d C A 9: 21,827,020 (GRCm39) R70M probably damaging Het
Ripk2 A T 4: 16,139,240 (GRCm39) M219K possibly damaging Het
Rnf146 A G 10: 29,223,349 (GRCm39) V179A probably damaging Het
Robo1 G T 16: 72,786,504 (GRCm39) V839L probably benign Het
Rttn T A 18: 89,038,329 (GRCm39) N808K probably damaging Het
Slc26a3 T C 12: 31,497,830 (GRCm39) V78A probably damaging Het
Slc26a9 G A 1: 131,691,781 (GRCm39) V675M probably damaging Het
Sncb T A 13: 54,910,509 (GRCm39) I76F probably benign Het
Stat4 G A 1: 52,053,029 (GRCm39) R70H probably damaging Het
Tle6 T C 10: 81,434,474 (GRCm39) M42V probably benign Het
Tmem67 T C 4: 12,068,882 (GRCm39) T439A probably benign Het
Ugt2b35 C A 5: 87,151,141 (GRCm39) T249K possibly damaging Het
Vmn1r231 C T 17: 21,109,997 (GRCm39) R306K probably benign Het
Vmn1r42 A T 6: 89,822,023 (GRCm39) I182N possibly damaging Het
Zfhx3 T C 8: 109,520,515 (GRCm39) S546P probably damaging Het
Zic3 G T X: 57,076,899 (GRCm39) probably null 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
IGL02440:Slc12a3 APN 8 95,058,310 (GRCm39) missense probably damaging 1.00
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