Incidental Mutation 'R8806:Nr3c2'
ID 672065
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 068612-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8806 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 77626070-77971641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77969092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 959 (I959T)
Ref Sequence ENSEMBL: ENSMUSP00000105538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034031] [ENSMUST00000109911] [ENSMUST00000109912] [ENSMUST00000109913] [ENSMUST00000148106]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034031
AA Change: I963T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: I963T

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: I846T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: I846T

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: I959T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: I959T

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: I959T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: I959T

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: 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
Meta Mutation Damage Score 0.6474 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,084,520 (GRCm39) M586V probably benign Het
Adam6b G A 12: 113,455,418 (GRCm39) R745H possibly damaging Het
Afg3l1 A G 8: 124,220,657 (GRCm39) D462G probably damaging Het
Anapc1 T A 2: 128,464,333 (GRCm39) Q1721L possibly damaging Het
Arhgap11a T C 2: 113,665,107 (GRCm39) Y497C possibly damaging Het
Bcl7b T G 5: 135,208,824 (GRCm39) S96A possibly damaging Het
Birc6 T C 17: 74,949,311 (GRCm39) V3111A probably damaging Het
Cbx1 A G 11: 96,692,383 (GRCm39) D90G possibly damaging Het
Cdkl3 T C 11: 51,923,295 (GRCm39) F524S possibly damaging Het
Cops7b G A 1: 86,517,031 (GRCm39) G44R probably damaging Het
D130043K22Rik A G 13: 25,083,618 (GRCm39) S1028G probably benign Het
Decr1 T A 4: 15,945,351 (GRCm39) M1L probably benign Het
Dmtn T C 14: 70,852,388 (GRCm39) I167V probably benign Het
Dnah9 A G 11: 65,750,309 (GRCm39) L3932P probably damaging Het
Ece1 T A 4: 137,672,452 (GRCm39) I365N probably damaging Het
Efcab3 T A 11: 104,928,695 (GRCm39) M4815K probably benign Het
Exo5 T C 4: 120,779,602 (GRCm39) T88A probably benign Het
Frem3 T C 8: 81,390,064 (GRCm39) Y1772H probably benign Het
Gm5160 A G 18: 14,557,931 (GRCm39) N3D possibly damaging Het
Gm7138 T A 10: 77,612,717 (GRCm39) D21V unknown Het
Gm7298 C A 6: 121,761,641 (GRCm39) silent Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Islr C A 9: 58,064,256 (GRCm39) G417V unknown Het
Kif13a A T 13: 46,914,813 (GRCm39) M1458K possibly damaging Het
Mcm7 T C 5: 138,163,347 (GRCm39) D642G possibly damaging Het
Med24 A T 11: 98,595,970 (GRCm39) I941N probably damaging Het
Mrgprb8 C T 7: 48,038,976 (GRCm39) P216S possibly damaging Het
Myo5c T A 9: 75,150,054 (GRCm39) V13D probably damaging Het
N4bp2 T A 5: 65,965,551 (GRCm39) I1200K possibly damaging Het
Naip6 G A 13: 100,437,161 (GRCm39) T454M possibly damaging Het
Nfkb1 T C 3: 135,295,213 (GRCm39) Y877C probably damaging Het
Nolc1 C A 19: 46,071,471 (GRCm39) S473R unknown Het
Nop16 A C 13: 54,737,672 (GRCm39) probably benign Het
Nup88 T G 11: 70,834,941 (GRCm39) K692N probably benign Het
Nvl C A 1: 180,922,619 (GRCm39) G818V probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or4k6 T A 14: 50,475,376 (GRCm39) E322V probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or4s2b T C 2: 88,508,955 (GRCm39) V245A probably benign Het
Or8b49 A T 9: 38,506,405 (GRCm39) D296V probably damaging Het
Or8k1 T C 2: 86,047,200 (GRCm39) I285V probably damaging Het
Plxnc1 G A 10: 94,635,140 (GRCm39) S1362L probably damaging Het
Ppfia2 C T 10: 106,694,114 (GRCm39) A696V probably damaging Het
Prl A G 13: 27,243,515 (GRCm39) Y62C probably damaging Het
Rnf135 A G 11: 80,089,762 (GRCm39) D366G probably damaging Het
Rrp8 A G 7: 105,384,244 (GRCm39) L86P probably damaging Het
Rsph4a T C 10: 33,785,445 (GRCm39) V452A probably damaging Het
Runx2 C A 17: 44,950,570 (GRCm39) V410L probably benign Het
Samd9l T C 6: 3,376,665 (GRCm39) T199A probably damaging Het
Sik3 T C 9: 46,120,365 (GRCm39) S745P probably damaging Het
Slc35e1 T A 8: 73,241,973 (GRCm39) S250C probably damaging Het
Snx31 A G 15: 36,537,698 (GRCm39) F160S probably damaging Het
Spata31g1 A G 4: 42,971,261 (GRCm39) D198G probably benign Het
Stim2 T A 5: 54,156,257 (GRCm39) V11E probably benign Het
Tektl1 A G 10: 78,588,306 (GRCm39) V168A probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tox4 T C 14: 52,524,318 (GRCm39) S151P probably damaging Het
Trim34b A T 7: 103,985,319 (GRCm39) D318V probably damaging Het
Ubtd1 T C 19: 42,022,195 (GRCm39) S156P probably damaging Het
Usp34 C A 11: 23,434,143 (GRCm39) L3240M Het
Vmn1r56 T C 7: 5,198,805 (GRCm39) S271G probably damaging Het
Vps13b T C 15: 35,472,212 (GRCm39) probably benign Het
Vps13c T C 9: 67,853,110 (GRCm39) F2401S probably damaging Het
Zbtb11 G A 16: 55,802,637 (GRCm39) V216I probably damaging Het
Zfp931 T C 2: 177,709,589 (GRCm39) T266A possibly damaging Het
Zfp956 A G 6: 47,933,042 (GRCm39) M106V 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
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
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'- TGACACTAGACTATGACAATGCTC -3'
(R):5'- TTGAGAAACTGCCGACCAAC -3'

Sequencing Primer
(F):5'- ACTTCCTGAGCATCGAATCGG -3'
(R):5'- AACTGTCAATCCGCCGTC -3'
Posted On 2021-04-30