Incidental Mutation 'IGL01802:Nr3c2'
ID155558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr3c2
Ensembl Gene ENSMUSG00000031618
Gene Namenuclear receptor subfamily 3, group C, member 2
SynonymsMR, aldosterone receptor, mineralocorticoid receptor, Mlr
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01802
Quality Score
Status
Chromosome8
Chromosomal Location76899442-77245012 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 76908595 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 108 (Y108*)
Ref Sequence ENSEMBL: ENSMUSP00000118222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034031] [ENSMUST00000109911] [ENSMUST00000109912] [ENSMUST00000109913] [ENSMUST00000128862] [ENSMUST00000143284] [ENSMUST00000148106]
Predicted Effect probably null
Transcript: ENSMUST00000034031
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: Y108*

DomainStartEndE-ValueType
low complexity region 212 222 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
low complexity region 280 300 N/A INTRINSIC
low complexity region 346 354 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
ZnF_C4 600 675 1.89e-31 SMART
low complexity region 690 706 N/A INTRINSIC
HOLI 771 935 7.78e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109911
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: Y108*

DomainStartEndE-ValueType
low complexity region 212 222 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
low complexity region 280 300 N/A INTRINSIC
low complexity region 346 354 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
ZnF_C4 600 671 5.29e-35 SMART
HOLI 658 818 1.1e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109912
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: Y108*

DomainStartEndE-ValueType
low complexity region 212 222 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
low complexity region 280 300 N/A INTRINSIC
low complexity region 346 354 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
ZnF_C4 600 671 5.29e-35 SMART
low complexity region 686 702 N/A INTRINSIC
HOLI 767 931 7.78e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109913
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: Y108*

DomainStartEndE-ValueType
low complexity region 212 222 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
low complexity region 280 300 N/A INTRINSIC
low complexity region 346 354 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
ZnF_C4 600 671 5.29e-35 SMART
low complexity region 686 702 N/A INTRINSIC
HOLI 767 931 7.78e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000128862
AA Change: Y108*
Predicted Effect probably benign
Transcript: ENSMUST00000143284
Predicted Effect probably null
Transcript: ENSMUST00000148106
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: Y108*

DomainStartEndE-ValueType
low complexity region 212 222 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
low complexity region 280 300 N/A INTRINSIC
low complexity region 346 354 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
ZnF_C4 600 671 5.29e-35 SMART
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 the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,292,438 M1434L probably benign Het
Acta2 T A 19: 34,243,436 I291F possibly damaging Het
Arhgap10 A G 8: 77,420,085 I230T probably damaging Het
Copb1 A C 7: 114,226,776 S658A probably benign Het
Crtc3 A T 7: 80,604,368 C244* probably null Het
Cyp4a14 G A 4: 115,494,937 R93* probably null Het
Dclk2 A G 3: 86,799,027 F586L probably damaging Het
Dmtn G T 14: 70,604,819 F358L probably damaging Het
Enam A T 5: 88,503,674 H1014L possibly damaging Het
Ercc6 A G 14: 32,562,574 T765A probably damaging Het
Gtf3c4 T C 2: 28,834,080 K547E probably damaging Het
Hdc G T 2: 126,603,894 A230D probably benign Het
Hipk3 A T 2: 104,471,853 probably benign Het
Kidins220 A G 12: 24,995,000 I264M probably damaging Het
Lrp1b C T 2: 41,511,482 V387I probably benign Het
Mmp8 T G 9: 7,567,440 F434V probably benign Het
Olfr1475 T C 19: 13,479,365 M278V probably benign Het
Olfr729 T G 14: 50,148,716 S53R probably benign Het
Pnpt1 A T 11: 29,154,306 D560V probably damaging Het
Rbbp8nl T C 2: 180,279,695 S299G probably benign Het
Rnf165 A T 18: 77,462,914 L106Q probably damaging Het
Slc9a4 A T 1: 40,607,798 N484I probably damaging Het
Sncaip C T 18: 52,869,037 S210F probably damaging Het
Tiam1 G T 16: 89,898,372 Q66K possibly damaging Het
Ttc39a C A 4: 109,433,084 Y330* probably null Het
Ush2a T G 1: 188,436,957 D1098E probably damaging Het
Vmn2r103 A G 17: 19,799,208 E518G probably benign Het
Other mutations in Nr3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Nr3c2 APN 8 76909590 missense possibly damaging 0.82
IGL01019:Nr3c2 APN 8 76909214 missense probably damaging 0.99
IGL01085:Nr3c2 APN 8 76908354 missense probably benign 0.02
IGL01395:Nr3c2 APN 8 76908848 missense possibly damaging 0.73
IGL01505:Nr3c2 APN 8 76909187 missense probably damaging 1.00
IGL01656:Nr3c2 APN 8 77187537 missense probably damaging 1.00
IGL02147:Nr3c2 APN 8 76909067 missense probably damaging 0.98
IGL02502:Nr3c2 APN 8 77242514 missense probably damaging 1.00
IGL02706:Nr3c2 APN 8 76908416 unclassified probably null
IGL02945:Nr3c2 APN 8 76909659 missense probably damaging 1.00
IGL03034:Nr3c2 APN 8 77187638 nonsense probably null
IGL03162:Nr3c2 APN 8 77217584 missense probably damaging 0.99
naughty UTSW 8 76908668 unclassified probably null
R0141:Nr3c2 UTSW 8 76908408 missense probably damaging 0.99
R0422:Nr3c2 UTSW 8 77185967 missense probably benign
R0458:Nr3c2 UTSW 8 76909538 missense probably damaging 1.00
R0595:Nr3c2 UTSW 8 76909604 missense possibly damaging 0.93
R0615:Nr3c2 UTSW 8 77185889 missense probably benign 0.05
R0964:Nr3c2 UTSW 8 76908668 unclassified probably null
R0989:Nr3c2 UTSW 8 77187564 missense probably damaging 0.97
R1532:Nr3c2 UTSW 8 76909104 missense probably damaging 0.99
R1624:Nr3c2 UTSW 8 76909944 missense probably damaging 1.00
R1737:Nr3c2 UTSW 8 76908329 missense probably benign 0.16
R1965:Nr3c2 UTSW 8 76909463 missense probably damaging 0.99
R2011:Nr3c2 UTSW 8 76909793 missense possibly damaging 0.53
R2110:Nr3c2 UTSW 8 76908527 missense possibly damaging 0.75
R2281:Nr3c2 UTSW 8 76909907 missense probably damaging 0.99
R3782:Nr3c2 UTSW 8 77085684 splice site probably null
R3808:Nr3c2 UTSW 8 76908714 missense probably damaging 1.00
R4133:Nr3c2 UTSW 8 76909749 missense probably damaging 1.00
R4433:Nr3c2 UTSW 8 77217467 missense probably damaging 1.00
R4738:Nr3c2 UTSW 8 76909307 missense possibly damaging 0.94
R4770:Nr3c2 UTSW 8 76908243 intron probably null
R4884:Nr3c2 UTSW 8 76908809 missense possibly damaging 0.53
R5169:Nr3c2 UTSW 8 76909037 missense probably damaging 1.00
R5347:Nr3c2 UTSW 8 77210748 missense possibly damaging 0.92
R5857:Nr3c2 UTSW 8 76908867 missense possibly damaging 0.53
R5878:Nr3c2 UTSW 8 76908268 critical splice acceptor site probably null
R6262:Nr3c2 UTSW 8 76908633 missense possibly damaging 0.65
R6547:Nr3c2 UTSW 8 76908809 missense possibly damaging 0.53
R6820:Nr3c2 UTSW 8 77242457 missense probably damaging 0.98
R7180:Nr3c2 UTSW 8 76908963 missense probably damaging 0.99
R7672:Nr3c2 UTSW 8 76909209 missense probably damaging 1.00
R7741:Nr3c2 UTSW 8 77210646 missense probably damaging 0.97
R7776:Nr3c2 UTSW 8 76909545 missense possibly damaging 0.77
R7800:Nr3c2 UTSW 8 76909992 missense probably damaging 1.00
Z1088:Nr3c2 UTSW 8 76908632 missense possibly damaging 0.48
Z1176:Nr3c2 UTSW 8 76909700 missense not run
Posted On2014-02-04