Incidental Mutation 'R1532:Nr3c2'
ID |
166658 |
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 |
039571-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1532 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77635733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 278
(H278R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105539
(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 damaging
Transcript: ENSMUST00000034031
AA Change: H278R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034031 Gene: ENSMUSG00000031618 AA Change: H278R
Domain | Start | End | E-Value | Type |
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: H278R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105537 Gene: ENSMUSG00000031618 AA Change: H278R
Domain | Start | End | E-Value | Type |
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: H278R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105538 Gene: ENSMUSG00000031618 AA Change: H278R
Domain | Start | End | E-Value | Type |
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: H278R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105539 Gene: ENSMUSG00000031618 AA Change: H278R
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000148106
AA Change: H278R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118222 Gene: ENSMUSG00000031618 AA Change: H278R
Domain | Start | End | E-Value | Type |
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: 91.9%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
C |
A |
4: 86,166,302 (GRCm39) |
H394N |
probably benign |
Het |
Ahrr |
A |
G |
13: 74,361,826 (GRCm39) |
S558P |
probably benign |
Het |
Ankrd26 |
T |
C |
6: 118,499,919 (GRCm39) |
N1184S |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,476,696 (GRCm39) |
C14* |
probably null |
Het |
Arhgap18 |
A |
G |
10: 26,736,718 (GRCm39) |
D187G |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,250,337 (GRCm39) |
T363A |
probably benign |
Het |
Atxn1 |
A |
T |
13: 45,720,386 (GRCm39) |
L503Q |
possibly damaging |
Het |
Babam1 |
A |
G |
8: 71,852,277 (GRCm39) |
D155G |
possibly damaging |
Het |
Bbs9 |
A |
G |
9: 22,798,945 (GRCm39) |
T858A |
probably benign |
Het |
Cacna1g |
C |
A |
11: 94,334,157 (GRCm39) |
G828V |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,380,405 (GRCm39) |
T392A |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,289,689 (GRCm39) |
V469A |
possibly damaging |
Het |
Cdh23 |
G |
T |
10: 60,150,110 (GRCm39) |
N2576K |
probably damaging |
Het |
Coro2b |
A |
G |
9: 62,396,705 (GRCm39) |
Y18H |
probably damaging |
Het |
Crispld2 |
G |
T |
8: 120,750,311 (GRCm39) |
K238N |
probably benign |
Het |
Ctnnd2 |
T |
C |
15: 30,922,014 (GRCm39) |
I880T |
probably damaging |
Het |
Cubn |
C |
A |
2: 13,292,472 (GRCm39) |
C3237F |
probably damaging |
Het |
Ddx31 |
A |
G |
2: 28,771,171 (GRCm39) |
M519V |
probably benign |
Het |
Dhx32 |
A |
T |
7: 133,350,753 (GRCm39) |
C106S |
possibly damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dnaaf1 |
T |
C |
8: 120,304,162 (GRCm39) |
F67L |
probably benign |
Het |
Duox1 |
T |
G |
2: 122,175,204 (GRCm39) |
L1334R |
probably damaging |
Het |
Dync1li2 |
A |
T |
8: 105,152,667 (GRCm39) |
I322N |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,742,256 (GRCm39) |
|
probably null |
Het |
Entpd6 |
A |
G |
2: 150,600,670 (GRCm39) |
Q126R |
probably benign |
Het |
Entpd7 |
C |
G |
19: 43,679,516 (GRCm39) |
P23R |
possibly damaging |
Het |
Epha3 |
T |
C |
16: 63,366,541 (GRCm39) |
I970V |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,861,855 (GRCm39) |
H2163L |
probably damaging |
Het |
Gse1 |
C |
G |
8: 121,294,949 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,999,301 (GRCm39) |
V300A |
probably damaging |
Het |
Hsd3b1 |
T |
A |
3: 98,760,214 (GRCm39) |
D259V |
probably damaging |
Het |
Hspbap1 |
T |
C |
16: 35,645,673 (GRCm39) |
S453P |
probably damaging |
Het |
Ifnl3 |
A |
G |
7: 28,223,652 (GRCm39) |
T163A |
probably benign |
Het |
Igbp1b |
T |
A |
6: 138,635,442 (GRCm39) |
M1L |
possibly damaging |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lpxn |
T |
C |
19: 12,781,456 (GRCm39) |
|
probably null |
Het |
Mast1 |
G |
A |
8: 85,655,238 (GRCm39) |
Q249* |
probably null |
Het |
Mink1 |
A |
G |
11: 70,492,833 (GRCm39) |
D153G |
probably null |
Het |
Mllt10 |
G |
A |
2: 18,097,646 (GRCm39) |
|
probably null |
Het |
Mpl |
C |
T |
4: 118,305,765 (GRCm39) |
G420E |
possibly damaging |
Het |
Ms4a1 |
T |
A |
19: 11,230,557 (GRCm39) |
T215S |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,994,656 (GRCm39) |
Q1179* |
probably null |
Het |
Or10v5 |
T |
C |
19: 11,805,983 (GRCm39) |
I136V |
probably benign |
Het |
Or52e18 |
T |
C |
7: 104,609,472 (GRCm39) |
I156V |
probably benign |
Het |
Or5b102 |
A |
G |
19: 13,041,639 (GRCm39) |
Y288C |
probably damaging |
Het |
Os9 |
C |
T |
10: 126,934,771 (GRCm39) |
V353M |
probably damaging |
Het |
Osbpl5 |
A |
T |
7: 143,248,817 (GRCm39) |
M589K |
probably benign |
Het |
Phf20 |
G |
T |
2: 156,144,969 (GRCm39) |
G859V |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,187,625 (GRCm39) |
T3561I |
probably benign |
Het |
Prss46 |
G |
A |
9: 110,679,236 (GRCm39) |
V146I |
probably benign |
Het |
Ptprk |
G |
A |
10: 28,461,626 (GRCm39) |
V1139M |
probably damaging |
Het |
Ranbp10 |
A |
G |
8: 106,500,963 (GRCm39) |
L396P |
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
Rbl2 |
G |
A |
8: 91,833,045 (GRCm39) |
A659T |
probably benign |
Het |
Rdm1 |
T |
C |
11: 101,524,643 (GRCm39) |
L192P |
probably damaging |
Het |
Reln |
A |
C |
5: 22,239,742 (GRCm39) |
W842G |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
Sele |
A |
G |
1: 163,881,420 (GRCm39) |
K509R |
probably benign |
Het |
Slc15a1 |
A |
T |
14: 121,713,396 (GRCm39) |
I377N |
possibly damaging |
Het |
Slc17a3 |
G |
A |
13: 24,040,483 (GRCm39) |
G269D |
probably damaging |
Het |
Slc35a5 |
T |
C |
16: 44,971,920 (GRCm39) |
T115A |
probably benign |
Het |
Slc5a12 |
T |
G |
2: 110,440,483 (GRCm39) |
N157K |
possibly damaging |
Het |
Sphkap |
A |
G |
1: 83,234,924 (GRCm39) |
V1634A |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,074,919 (GRCm39) |
S2382P |
probably damaging |
Het |
Synj2 |
C |
A |
17: 6,084,194 (GRCm39) |
S1100R |
probably benign |
Het |
Tcf23 |
A |
G |
5: 31,130,901 (GRCm39) |
T180A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,804 (GRCm39) |
V2846A |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,293,751 (GRCm39) |
I915K |
probably damaging |
Het |
Uba1y |
C |
T |
Y: 828,862 (GRCm39) |
H557Y |
probably benign |
Het |
Unc45b |
T |
A |
11: 82,827,700 (GRCm39) |
D730E |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,605,011 (GRCm39) |
L734Q |
probably damaging |
Het |
Vmn1r167 |
G |
T |
7: 23,204,204 (GRCm39) |
H271N |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,879,454 (GRCm39) |
V282A |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,344,283 (GRCm39) |
K2175E |
probably benign |
Het |
|
Other mutations in Nr3c2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TGCCATCGTTAAGAGCCCAATCATC -3'
(R):5'- GCGCCTGAAGTGGTATAGCTGAAG -3'
Sequencing Primer
(F):5'- TCATCTGTCATGAGAAGAGCC -3'
(R):5'- TGGTATAGCTGAAGGCATTGC -3'
|
Posted On |
2014-04-13 |