Incidental Mutation 'R6547:Nr3c2'
ID 521280
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 044672-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6547 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 77626070-77971641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77635438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 180 (I180F)
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: I180F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: I180F

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: I180F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: I180F

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: I180F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: I180F

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: I180F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: I180F

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: I180F

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: I180F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,490,251 (GRCm39) probably benign Het
Abca13 T A 11: 9,224,757 (GRCm39) V490E probably benign Het
Abca2 G T 2: 25,323,350 (GRCm39) G106V possibly damaging Het
Ablim3 T C 18: 61,957,000 (GRCm39) T276A probably benign Het
Anxa7 A G 14: 20,519,461 (GRCm39) V119A probably benign Het
Arl9 A G 5: 77,158,257 (GRCm39) probably null Het
Atm T C 9: 53,351,457 (GRCm39) Y2964C probably damaging Het
Bbs9 T C 9: 22,425,365 (GRCm39) Y140H probably benign Het
Calcr A T 6: 3,717,177 (GRCm39) D94E probably damaging Het
Celsr3 T A 9: 108,706,327 (GRCm39) Y937N probably damaging Het
Cemip2 A T 19: 21,822,195 (GRCm39) T1197S probably benign Het
Clca3a1 C T 3: 144,442,708 (GRCm39) A779T probably damaging Het
Clec9a T A 6: 129,393,339 (GRCm39) V94D probably benign Het
Colec12 G T 18: 9,840,351 (GRCm39) L57F probably damaging Het
Fa2h T C 8: 112,074,652 (GRCm39) Y317C probably damaging Het
Flnc A G 6: 29,448,607 (GRCm39) T1282A probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Hcn2 G T 10: 79,552,986 (GRCm39) V162L probably benign Het
Hycc1 T C 5: 24,170,098 (GRCm39) N417S probably benign Het
Kbtbd11 T A 8: 15,077,641 (GRCm39) V80E possibly damaging Het
Lama4 A G 10: 38,949,652 (GRCm39) D915G probably damaging Het
Limch1 A T 5: 67,186,117 (GRCm39) E806V probably damaging Het
Mppe1 T C 18: 67,362,059 (GRCm39) I169V probably benign Het
Msc A C 1: 14,825,969 (GRCm39) S2A possibly damaging Het
Nploc4 A G 11: 120,319,348 (GRCm39) probably null Het
Nrap G T 19: 56,339,998 (GRCm39) H840N probably benign Het
Or8a1 T A 9: 37,641,791 (GRCm39) M163L probably benign Het
Pate13 T A 9: 35,819,781 (GRCm39) M15K probably null Het
Pdlim1 G A 19: 40,211,564 (GRCm39) T243I probably damaging Het
Pfkl T A 10: 77,831,188 (GRCm39) M318L probably benign Het
Rap1gds1 C A 3: 138,661,099 (GRCm39) R426L probably damaging Het
Ric1 A G 19: 29,572,226 (GRCm39) N674D probably damaging Het
Rp1 G A 1: 4,240,528 (GRCm39) T875I unknown Het
Rtn1 G T 12: 72,355,535 (GRCm39) S137Y possibly damaging Het
Scn2a A G 2: 65,546,241 (GRCm39) I935V probably benign Het
Serpina1a C T 12: 103,822,180 (GRCm39) V251M probably damaging Het
Slc19a3 A G 1: 83,000,621 (GRCm39) V132A probably damaging Het
Slc26a6 T A 9: 108,737,981 (GRCm39) probably null Het
Slc2a5 T A 4: 150,220,076 (GRCm39) V164D possibly damaging Het
Slc4a1 T A 11: 102,247,561 (GRCm39) T441S probably damaging Het
Stk33 T C 7: 108,920,042 (GRCm39) I366V possibly damaging Het
Syt14 G T 1: 192,584,177 (GRCm39) H696N possibly damaging Het
Tcaim T A 9: 122,643,531 (GRCm39) V77D probably benign Het
Tefm T G 11: 80,031,210 (GRCm39) probably null Het
Tekt3 T A 11: 62,961,304 (GRCm39) S158T possibly damaging Het
Tspan11 T A 6: 127,926,766 (GRCm39) M238K possibly damaging Het
Unc5c A T 3: 141,495,780 (GRCm39) T476S probably benign Het
Usp9y A T Y: 1,444,612 (GRCm39) L109Q probably damaging Homo
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps13c C A 9: 67,880,647 (GRCm39) Q3495K probably damaging Het
Zbtb10 G A 3: 9,316,763 (GRCm39) A192T probably benign Het
Zfp316 A T 5: 143,239,952 (GRCm39) V689D probably damaging Het
Zswim1 A G 2: 164,666,716 (GRCm39) probably benign Het
Zswim5 T C 4: 116,844,100 (GRCm39) L1046P 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
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
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'- TGTGAGAGATGCCGAGTACAC -3'
(R):5'- GCCTCTATTTTCAACACTGGGG -3'

Sequencing Primer
(F):5'- GATGCCGAGTACACTTATGATCAGC -3'
(R):5'- TTCAACACTGGGGGAGCATGTC -3'
Posted On 2018-06-06