Incidental Mutation 'IGL01395:Nr3c2'
ID 79394
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 # IGL01395
Quality Score
Status
Chromosome 8
Chromosomal Location 77626070-77971641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77635477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 193 (S193P)
Ref Sequence ENSEMBL: ENSMUSP00000105537 (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 benign
Transcript: ENSMUST00000034031
AA Change: S193P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: S193P

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 possibly damaging
Transcript: ENSMUST00000109911
AA Change: S193P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: S193P

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 benign
Transcript: ENSMUST00000109912
AA Change: S193P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: S193P

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: ENSMUST00000109913
AA Change: S193P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: S193P

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 benign
Transcript: ENSMUST00000148106
AA Change: S193P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: S193P

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging 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
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
IGL02945:Nr3c2 APN 8 77,636,288 (GRCm39) missense probably damaging 1.00
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 2013-11-05