Incidental Mutation 'IGL03162:Nr3c2'
ID411473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr3c2
Ensembl Gene ENSMUSG00000031618
Gene Namenuclear receptor subfamily 3, group C, member 2
SynonymsMR, aldosterone receptor, mineralocorticoid receptor, Mlr
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03162
Quality Score
Status
Chromosome8
Chromosomal Location76899442-77245012 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77217584 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 816 (D816V)
Ref Sequence ENSEMBL: ENSMUSP00000105537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034031] [ENSMUST00000109911] [ENSMUST00000109912] [ENSMUST00000109913] [ENSMUST00000148106]
Predicted Effect probably benign
Transcript: ENSMUST00000034031
AA Change: D933V

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: D933V

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: D816V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: D816V

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: D929V

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: D929V

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: D929V

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: D929V

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Adh6a T A 3: 138,329,119 Y336* probably null Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
E2f6 T A 12: 16,818,908 D77E probably benign Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klhl2 A G 8: 64,754,392 V311A probably damaging Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Olfr518 T C 7: 108,881,604 M1V probably null Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Recql4 G T 15: 76,706,096 probably null Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Vpreb3 A G 10: 75,949,299 Y77C probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V probably benign Het
Other mutations in Nr3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Nr3c2 APN 8 76909590 missense possibly damaging 0.82
IGL01019:Nr3c2 APN 8 76909214 missense probably damaging 0.99
IGL01085:Nr3c2 APN 8 76908354 missense probably benign 0.02
IGL01395:Nr3c2 APN 8 76908848 missense possibly damaging 0.73
IGL01505:Nr3c2 APN 8 76909187 missense probably damaging 1.00
IGL01656:Nr3c2 APN 8 77187537 missense probably damaging 1.00
IGL01802:Nr3c2 APN 8 76908595 nonsense probably null
IGL02147:Nr3c2 APN 8 76909067 missense probably damaging 0.98
IGL02502:Nr3c2 APN 8 77242514 missense probably damaging 1.00
IGL02706:Nr3c2 APN 8 76908416 unclassified probably null
IGL02945:Nr3c2 APN 8 76909659 missense probably damaging 1.00
IGL03034:Nr3c2 APN 8 77187638 nonsense probably null
naughty UTSW 8 76908668 unclassified probably null
R0141:Nr3c2 UTSW 8 76908408 missense probably damaging 0.99
R0422:Nr3c2 UTSW 8 77185967 missense probably benign
R0458:Nr3c2 UTSW 8 76909538 missense probably damaging 1.00
R0595:Nr3c2 UTSW 8 76909604 missense possibly damaging 0.93
R0615:Nr3c2 UTSW 8 77185889 missense probably benign 0.05
R0964:Nr3c2 UTSW 8 76908668 unclassified probably null
R0989:Nr3c2 UTSW 8 77187564 missense probably damaging 0.97
R1532:Nr3c2 UTSW 8 76909104 missense probably damaging 0.99
R1624:Nr3c2 UTSW 8 76909944 missense probably damaging 1.00
R1737:Nr3c2 UTSW 8 76908329 missense probably benign 0.16
R1965:Nr3c2 UTSW 8 76909463 missense probably damaging 0.99
R2011:Nr3c2 UTSW 8 76909793 missense possibly damaging 0.53
R2110:Nr3c2 UTSW 8 76908527 missense possibly damaging 0.75
R2281:Nr3c2 UTSW 8 76909907 missense probably damaging 0.99
R3782:Nr3c2 UTSW 8 77085684 splice site probably null
R3808:Nr3c2 UTSW 8 76908714 missense probably damaging 1.00
R4133:Nr3c2 UTSW 8 76909749 missense probably damaging 1.00
R4433:Nr3c2 UTSW 8 77217467 missense probably damaging 1.00
R4738:Nr3c2 UTSW 8 76909307 missense possibly damaging 0.94
R4770:Nr3c2 UTSW 8 76908243 intron probably null
R4884:Nr3c2 UTSW 8 76908809 missense possibly damaging 0.53
R5169:Nr3c2 UTSW 8 76909037 missense probably damaging 1.00
R5347:Nr3c2 UTSW 8 77210748 missense possibly damaging 0.92
R5857:Nr3c2 UTSW 8 76908867 missense possibly damaging 0.53
R5878:Nr3c2 UTSW 8 76908268 critical splice acceptor site probably null
R6262:Nr3c2 UTSW 8 76908633 missense possibly damaging 0.65
R6547:Nr3c2 UTSW 8 76908809 missense possibly damaging 0.53
R6820:Nr3c2 UTSW 8 77242457 missense probably damaging 0.98
R7180:Nr3c2 UTSW 8 76908963 missense probably damaging 0.99
R7672:Nr3c2 UTSW 8 76909209 missense probably damaging 1.00
R7741:Nr3c2 UTSW 8 77210646 missense probably damaging 0.97
R7776:Nr3c2 UTSW 8 76909545 missense possibly damaging 0.77
R7800:Nr3c2 UTSW 8 76909992 missense probably damaging 1.00
Z1088:Nr3c2 UTSW 8 76908632 missense possibly damaging 0.48
Posted On2016-08-02