Incidental Mutation 'R0989:Nr3c2'
ID 97506
Institutional Source Beutler Lab
Gene Symbol Nr3c2
Ensembl Gene ENSMUSG00000031618
Gene Name nuclear receptor subfamily 3, group C, member 2
Synonyms mineralocorticoid receptor, MR, aldosterone receptor, Mlr
MMRRC Submission 039109-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0989 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 77626070-77971641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77914193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 687 (Y687H)
Ref Sequence ENSEMBL: ENSMUSP00000105537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034031] [ENSMUST00000109911] [ENSMUST00000109912] [ENSMUST00000109913] [ENSMUST00000148106]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034031
AA Change: Y804H

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: Y804H

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: Y687H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: Y687H

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 possibly damaging
Transcript: ENSMUST00000109912
AA Change: Y800H

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: Y800H

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 possibly damaging
Transcript: ENSMUST00000109913
AA Change: Y800H

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: Y800H

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 noncoding transcript
Transcript: ENSMUST00000126697
Predicted Effect probably benign
Transcript: ENSMUST00000148106
SMART Domains Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A G 7: 131,030,273 (GRCm39) D140G probably damaging Het
Atp7b A G 8: 22,518,710 (GRCm39) S43P possibly damaging Het
C4bp G A 1: 130,570,790 (GRCm39) T262I probably benign Het
Cdh23 A G 10: 60,370,289 (GRCm39) Y169H probably damaging Het
Celsr1 T C 15: 85,915,480 (GRCm39) E831G probably benign Het
Celsr2 A C 3: 108,310,588 (GRCm39) M1498R probably benign Het
Crim1 T C 17: 78,508,373 (GRCm39) V59A probably benign Het
Dnah10 A G 5: 124,875,002 (GRCm39) I2560V probably benign Het
Enpp2 A T 15: 54,739,155 (GRCm39) M376K possibly damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fbxw11 T C 11: 32,685,149 (GRCm39) V328A probably benign Het
Gm4846 G A 1: 166,314,689 (GRCm39) S318L possibly damaging Het
Golm1 A T 13: 59,787,997 (GRCm39) Y301N probably benign Het
Ipo8 T C 6: 148,698,180 (GRCm39) T614A probably benign Het
Klhl33 T A 14: 51,129,279 (GRCm39) Y390F probably damaging Het
Minar1 T A 9: 89,484,088 (GRCm39) K436N probably damaging Het
Mlh3 A G 12: 85,316,169 (GRCm39) S6P probably benign Het
Neurod2 A G 11: 98,218,805 (GRCm39) S120P probably damaging Het
Nfkb1 A G 3: 135,295,157 (GRCm39) S896P probably benign Het
Or13a24 A C 7: 140,154,200 (GRCm39) I45L probably damaging Het
Or52k2 G A 7: 102,253,690 (GRCm39) G43D probably damaging Het
Parp3 C T 9: 106,350,281 (GRCm39) probably null Het
Pcolce2 T A 9: 95,520,776 (GRCm39) M51K probably benign Het
Pnoc T C 14: 65,642,317 (GRCm39) K149E probably damaging Het
Polr1b T G 2: 128,967,997 (GRCm39) V1130G probably damaging Het
Prcp A T 7: 92,559,424 (GRCm39) I163F probably benign Het
Sez6l2 A G 7: 126,559,016 (GRCm39) D361G probably damaging Het
Slc4a9 T A 18: 36,669,920 (GRCm39) L785* probably null Het
Ssna1 T C 2: 25,161,575 (GRCm39) T91A probably benign Het
St18 A G 1: 6,898,105 (GRCm39) T636A probably benign Het
Tln2 C T 9: 67,136,736 (GRCm39) A1250T probably damaging Het
Tnk2 A G 16: 32,499,176 (GRCm39) M815V probably damaging Het
Tspan31 T A 10: 126,904,196 (GRCm39) H167L probably damaging Het
Tspoap1 T A 11: 87,656,649 (GRCm39) C287S probably damaging Het
Unc80 T C 1: 66,685,599 (GRCm39) F2241S possibly 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
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
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
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
Predicted Primers PCR Primer
(F):5'- AGCGTGCAGAACCTCAATGGACTC -3'
(R):5'- AATCATGGCATTGGACCAGGCGAG -3'

Sequencing Primer
(F):5'- TCCGCACCAAGCATTTAGTG -3'
(R):5'- CACACTTGTACATCTGGCTTAGAG -3'
Posted On 2014-01-05