Incidental Mutation 'IGL02945:Nr3c2'
ID 364684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr3c2
Ensembl Gene ENSMUSG00000031618
Gene Name nuclear receptor subfamily 3, group C, member 2
Synonyms mineralocorticoid receptor, MR, aldosterone receptor, Mlr
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02945
Quality Score
Status
Chromosome 8
Chromosomal Location 77626070-77971641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77636288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 463 (D463V)
Ref Sequence ENSEMBL: ENSMUSP00000105539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034031] [ENSMUST00000109911] [ENSMUST00000109912] [ENSMUST00000109913] [ENSMUST00000128862] [ENSMUST00000143284] [ENSMUST00000148106]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034031
AA Change: D463V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: D463V

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 damaging
Transcript: ENSMUST00000109911
AA Change: D463V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: D463V

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 damaging
Transcript: ENSMUST00000109912
AA Change: D463V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: D463V

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 damaging
Transcript: ENSMUST00000109913
AA Change: D463V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: D463V

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 benign
Transcript: ENSMUST00000128862
Predicted Effect probably benign
Transcript: ENSMUST00000143284
Predicted Effect probably damaging
Transcript: ENSMUST00000148106
AA Change: D463V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: D463V

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,633,095 (GRCm39) noncoding transcript Het
Adgrf4 T C 17: 42,978,257 (GRCm39) Q362R probably benign Het
Akap6 A G 12: 52,927,620 (GRCm39) N177D probably damaging Het
Alms1 A G 6: 85,597,915 (GRCm39) I914V probably damaging Het
Arhgap11a A T 2: 113,667,818 (GRCm39) S394R possibly damaging Het
Cacna1h C T 17: 25,607,033 (GRCm39) V962I probably damaging Het
Calr3 A T 8: 73,192,401 (GRCm39) L91Q probably damaging Het
Ccnf T C 17: 24,443,890 (GRCm39) E626G probably damaging Het
Clec10a A T 11: 70,061,368 (GRCm39) I295F possibly damaging Het
Cop1 A T 1: 159,134,259 (GRCm39) N167I probably benign Het
Csmd1 G T 8: 16,321,584 (GRCm39) Q505K possibly damaging Het
Ctrc A C 4: 141,573,563 (GRCm39) V6G possibly damaging Het
Cyp2c69 T C 19: 39,875,091 (GRCm39) R21G possibly damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Egfr T A 11: 16,702,514 (GRCm39) L11Q probably damaging Het
Erich2 A G 2: 70,364,738 (GRCm39) T371A probably damaging Het
Fbxl21 T A 13: 56,674,983 (GRCm39) F111L probably damaging Het
Grik4 G T 9: 42,509,175 (GRCm39) T416N possibly damaging Het
Grin3a A G 4: 49,792,971 (GRCm39) V254A possibly damaging Het
Hat1 G A 2: 71,251,037 (GRCm39) R195K probably benign Het
Hmgb4 A C 4: 128,154,387 (GRCm39) Y60* probably null Het
Ighv12-3 A G 12: 114,330,337 (GRCm39) W53R probably damaging Het
Irs2 C A 8: 11,057,781 (GRCm39) C217F probably damaging Het
Kcnb1 T C 2: 167,030,308 (GRCm39) E79G probably benign Het
Lingo3 A G 10: 80,670,532 (GRCm39) I466T probably damaging Het
Lyst T C 13: 13,935,783 (GRCm39) S3665P possibly damaging Het
Myh9 A T 15: 77,646,205 (GRCm39) L1926Q probably benign Het
Myom1 A G 17: 71,399,088 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,245,569 (GRCm39) F198L probably damaging Het
Nktr A G 9: 121,557,697 (GRCm39) T63A probably damaging Het
Nle1 A T 11: 82,794,910 (GRCm39) probably benign Het
Or5k17 A T 16: 58,746,703 (GRCm39) I77N probably damaging Het
Or8b43 A G 9: 38,360,812 (GRCm39) I215V probably benign Het
Pcdhb18 T C 18: 37,623,048 (GRCm39) I126T probably benign Het
Pgm1 A G 4: 99,818,731 (GRCm39) I127V probably benign Het
Rai14 A G 15: 10,574,795 (GRCm39) I721T probably benign Het
Rps6ka1 A G 4: 133,594,510 (GRCm39) Y57H probably damaging Het
Scara3 T A 14: 66,168,660 (GRCm39) D319V probably damaging Het
Selp G A 1: 163,961,498 (GRCm39) G404S probably damaging Het
Serinc3 A G 2: 163,472,836 (GRCm39) probably benign Het
Slc4a8 A G 15: 100,705,080 (GRCm39) probably null Het
Spen G T 4: 141,221,624 (GRCm39) L325I unknown Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Thumpd1 A T 7: 119,315,970 (GRCm39) S326R possibly damaging Het
Tmem255b T C 8: 13,505,141 (GRCm39) S149P probably damaging Het
Tnni3k A T 3: 154,743,075 (GRCm39) S95T possibly damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Ttn A T 2: 76,582,316 (GRCm39) I22859N probably damaging Het
Zfp319 A T 8: 96,050,446 (GRCm39) probably benign Het
Other mutations in Nr3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Nr3c2 APN 8 77,636,219 (GRCm39) missense possibly damaging 0.82
IGL01019:Nr3c2 APN 8 77,635,843 (GRCm39) missense probably damaging 0.99
IGL01085:Nr3c2 APN 8 77,634,983 (GRCm39) missense probably benign 0.02
IGL01395:Nr3c2 APN 8 77,635,477 (GRCm39) missense possibly damaging 0.73
IGL01505:Nr3c2 APN 8 77,635,816 (GRCm39) missense probably damaging 1.00
IGL01656:Nr3c2 APN 8 77,914,166 (GRCm39) missense probably damaging 1.00
IGL01802:Nr3c2 APN 8 77,635,224 (GRCm39) nonsense probably null
IGL02147:Nr3c2 APN 8 77,635,696 (GRCm39) missense probably damaging 0.98
IGL02502:Nr3c2 APN 8 77,969,143 (GRCm39) missense probably damaging 1.00
IGL02706:Nr3c2 APN 8 77,635,045 (GRCm39) splice site probably null
IGL03034:Nr3c2 APN 8 77,914,267 (GRCm39) nonsense probably null
IGL03162:Nr3c2 APN 8 77,944,213 (GRCm39) missense probably damaging 0.99
devalued UTSW 8 77,969,092 (GRCm39) missense probably damaging 1.00
naughty UTSW 8 77,635,297 (GRCm39) splice site probably null
R0141:Nr3c2 UTSW 8 77,635,037 (GRCm39) missense probably damaging 0.99
R0422:Nr3c2 UTSW 8 77,912,596 (GRCm39) missense probably benign
R0458:Nr3c2 UTSW 8 77,636,167 (GRCm39) missense probably damaging 1.00
R0595:Nr3c2 UTSW 8 77,636,233 (GRCm39) missense possibly damaging 0.93
R0615:Nr3c2 UTSW 8 77,912,518 (GRCm39) missense probably benign 0.05
R0964:Nr3c2 UTSW 8 77,635,297 (GRCm39) splice site probably null
R0989:Nr3c2 UTSW 8 77,914,193 (GRCm39) missense probably damaging 0.97
R1532:Nr3c2 UTSW 8 77,635,733 (GRCm39) missense probably damaging 0.99
R1624:Nr3c2 UTSW 8 77,636,573 (GRCm39) missense probably damaging 1.00
R1737:Nr3c2 UTSW 8 77,634,958 (GRCm39) missense probably benign 0.16
R1965:Nr3c2 UTSW 8 77,636,092 (GRCm39) missense probably damaging 0.99
R2011:Nr3c2 UTSW 8 77,636,422 (GRCm39) missense possibly damaging 0.53
R2110:Nr3c2 UTSW 8 77,635,156 (GRCm39) missense possibly damaging 0.75
R2281:Nr3c2 UTSW 8 77,636,536 (GRCm39) missense probably damaging 0.99
R3782:Nr3c2 UTSW 8 77,812,313 (GRCm39) splice site probably null
R3808:Nr3c2 UTSW 8 77,635,343 (GRCm39) missense probably damaging 1.00
R4133:Nr3c2 UTSW 8 77,636,378 (GRCm39) missense probably damaging 1.00
R4433:Nr3c2 UTSW 8 77,944,096 (GRCm39) missense probably damaging 1.00
R4738:Nr3c2 UTSW 8 77,635,936 (GRCm39) missense possibly damaging 0.94
R4770:Nr3c2 UTSW 8 77,634,872 (GRCm39) splice site probably null
R4884:Nr3c2 UTSW 8 77,635,438 (GRCm39) missense possibly damaging 0.53
R5169:Nr3c2 UTSW 8 77,635,666 (GRCm39) missense probably damaging 1.00
R5347:Nr3c2 UTSW 8 77,937,377 (GRCm39) missense possibly damaging 0.92
R5857:Nr3c2 UTSW 8 77,635,496 (GRCm39) missense possibly damaging 0.53
R5878:Nr3c2 UTSW 8 77,634,897 (GRCm39) critical splice acceptor site probably null
R6262:Nr3c2 UTSW 8 77,635,262 (GRCm39) missense possibly damaging 0.65
R6547:Nr3c2 UTSW 8 77,635,438 (GRCm39) missense possibly damaging 0.53
R6820:Nr3c2 UTSW 8 77,969,086 (GRCm39) missense probably damaging 0.98
R7180:Nr3c2 UTSW 8 77,635,592 (GRCm39) missense probably damaging 0.99
R7672:Nr3c2 UTSW 8 77,635,838 (GRCm39) missense probably damaging 1.00
R7741:Nr3c2 UTSW 8 77,937,275 (GRCm39) missense probably damaging 0.97
R7776:Nr3c2 UTSW 8 77,636,174 (GRCm39) missense possibly damaging 0.77
R7800:Nr3c2 UTSW 8 77,636,621 (GRCm39) missense probably damaging 1.00
R8742:Nr3c2 UTSW 8 77,635,210 (GRCm39) missense probably damaging 0.98
R8743:Nr3c2 UTSW 8 77,636,387 (GRCm39) missense probably damaging 1.00
R8806:Nr3c2 UTSW 8 77,969,092 (GRCm39) missense probably damaging 1.00
R8964:Nr3c2 UTSW 8 77,881,941 (GRCm39) missense probably damaging 1.00
R9265:Nr3c2 UTSW 8 77,636,236 (GRCm39) missense probably benign
R9280:Nr3c2 UTSW 8 77,635,973 (GRCm39) missense probably benign 0.00
Z1088:Nr3c2 UTSW 8 77,635,261 (GRCm39) missense possibly damaging 0.48
Z1176:Nr3c2 UTSW 8 77,636,329 (GRCm39) missense probably damaging 0.97
Posted On 2015-12-18