Incidental Mutation 'R4738:Nr3c2'
ID |
359439 |
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 |
041964-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4738 (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 77635936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 346
(S346P)
|
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 |
possibly damaging
Transcript: ENSMUST00000034031
AA Change: S346P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034031 Gene: ENSMUSG00000031618 AA Change: S346P
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: S346P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105537 Gene: ENSMUSG00000031618 AA Change: S346P
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 |
possibly damaging
Transcript: ENSMUST00000109912
AA Change: S346P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105538 Gene: ENSMUSG00000031618 AA Change: S346P
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 |
possibly damaging
Transcript: ENSMUST00000109913
AA Change: S346P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105539 Gene: ENSMUSG00000031618 AA Change: S346P
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 |
probably benign
Transcript: ENSMUST00000148106
AA Change: S346P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000118222 Gene: ENSMUSG00000031618 AA Change: S346P
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: 98.4%
- 10x: 96.9%
- 20x: 94.3%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,121,849 (GRCm39) |
I176T |
probably benign |
Het |
Abtb3 |
C |
T |
10: 85,463,112 (GRCm39) |
Q626* |
probably null |
Het |
Angpt2 |
C |
T |
8: 18,791,075 (GRCm39) |
D74N |
probably benign |
Het |
Apol10a |
C |
T |
15: 77,372,841 (GRCm39) |
T159I |
possibly damaging |
Het |
Areg |
T |
C |
5: 91,294,583 (GRCm39) |
I247T |
possibly damaging |
Het |
Atg16l2 |
A |
G |
7: 100,946,385 (GRCm39) |
L129P |
probably damaging |
Het |
Atp6v1b2 |
T |
A |
8: 69,556,062 (GRCm39) |
S246T |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,678,251 (GRCm39) |
R882G |
probably benign |
Het |
Atp9a |
A |
G |
2: 168,510,101 (GRCm39) |
V444A |
probably benign |
Het |
Babam2 |
T |
A |
5: 32,058,486 (GRCm39) |
Y211N |
probably damaging |
Het |
Ccdc127 |
T |
G |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
Cep192 |
A |
T |
18: 68,017,901 (GRCm39) |
K2500* |
probably null |
Het |
Cnot4 |
T |
C |
6: 35,028,311 (GRCm39) |
N435S |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,606,564 (GRCm39) |
I620V |
probably damaging |
Het |
Cyth4 |
G |
A |
15: 78,490,074 (GRCm39) |
M62I |
probably benign |
Het |
Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,407,880 (GRCm39) |
R1984Q |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
Disp2 |
A |
G |
2: 118,620,807 (GRCm39) |
Y513C |
probably damaging |
Het |
Dph7 |
T |
C |
2: 24,853,143 (GRCm39) |
S86P |
possibly damaging |
Het |
Eif3b |
T |
A |
5: 140,415,833 (GRCm39) |
M384K |
probably benign |
Het |
Emc1 |
G |
T |
4: 139,089,513 (GRCm39) |
G227V |
possibly damaging |
Het |
Eri2 |
A |
G |
7: 119,386,955 (GRCm39) |
|
probably null |
Het |
Frzb |
A |
G |
2: 80,254,941 (GRCm39) |
|
probably null |
Het |
Ganc |
T |
A |
2: 120,283,075 (GRCm39) |
V743D |
probably damaging |
Het |
Gfpt1 |
C |
A |
6: 87,031,729 (GRCm39) |
|
probably benign |
Het |
Gm3086 |
A |
T |
12: 70,016,155 (GRCm39) |
|
probably benign |
Het |
Gsdmc2 |
A |
T |
15: 63,698,650 (GRCm39) |
Y315* |
probably null |
Het |
Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
Hhip |
C |
T |
8: 80,719,199 (GRCm39) |
D443N |
probably damaging |
Het |
Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
Kank2 |
T |
C |
9: 21,685,915 (GRCm39) |
N653S |
probably damaging |
Het |
Klhdc1 |
G |
T |
12: 69,329,907 (GRCm39) |
R345S |
probably benign |
Het |
Larp7 |
A |
G |
3: 127,339,694 (GRCm39) |
|
probably null |
Het |
Lgals12 |
A |
G |
19: 7,581,464 (GRCm39) |
V81A |
probably benign |
Het |
Lhx9 |
A |
G |
1: 138,760,486 (GRCm39) |
L288P |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,456 (GRCm39) |
H213L |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,540 (GRCm39) |
C101R |
probably damaging |
Het |
Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
Neb |
A |
C |
2: 52,077,494 (GRCm39) |
S1846A |
probably damaging |
Het |
Obi1 |
C |
T |
14: 104,747,819 (GRCm39) |
D43N |
probably damaging |
Het |
Or10h5 |
A |
G |
17: 33,434,784 (GRCm39) |
F178S |
probably benign |
Het |
Or1e1c |
G |
T |
11: 73,266,176 (GRCm39) |
L200F |
possibly damaging |
Het |
Or51e1 |
T |
A |
7: 102,359,378 (GRCm39) |
I304N |
probably damaging |
Het |
Or5h19 |
T |
C |
16: 58,856,558 (GRCm39) |
I181V |
probably benign |
Het |
Or5p63 |
A |
T |
7: 107,811,201 (GRCm39) |
N178K |
probably damaging |
Het |
Osbpl10 |
A |
G |
9: 115,045,642 (GRCm39) |
E426G |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,887,234 (GRCm39) |
V210A |
probably damaging |
Het |
Pam |
A |
T |
1: 97,850,857 (GRCm39) |
V167D |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,784,582 (GRCm39) |
R143G |
probably benign |
Het |
Pbx4 |
C |
T |
8: 70,317,619 (GRCm39) |
T201M |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,536,468 (GRCm39) |
C821R |
probably benign |
Het |
Plekhg3 |
T |
C |
12: 76,623,688 (GRCm39) |
I976T |
probably damaging |
Het |
Pold1 |
G |
A |
7: 44,190,753 (GRCm39) |
R304C |
probably damaging |
Het |
Prss38 |
T |
C |
11: 59,263,771 (GRCm39) |
T314A |
probably benign |
Het |
Psph |
T |
C |
5: 129,846,450 (GRCm39) |
|
probably null |
Het |
Ptprj |
G |
A |
2: 90,270,987 (GRCm39) |
P1247L |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,862,173 (GRCm39) |
E648G |
probably damaging |
Het |
Ralgds |
A |
G |
2: 28,435,428 (GRCm39) |
E465G |
probably damaging |
Het |
Rfng |
T |
C |
11: 120,674,790 (GRCm39) |
T67A |
probably damaging |
Het |
Rps6kl1 |
G |
T |
12: 85,187,161 (GRCm39) |
F181L |
probably benign |
Het |
Spata46 |
G |
A |
1: 170,139,455 (GRCm39) |
M151I |
possibly damaging |
Het |
Ssbp1 |
T |
A |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,455,330 (GRCm39) |
A3064V |
possibly damaging |
Het |
Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
Tdpoz4 |
T |
C |
3: 93,704,396 (GRCm39) |
I231T |
probably damaging |
Het |
Tff3 |
G |
A |
17: 31,346,483 (GRCm39) |
P30S |
probably benign |
Het |
Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
Tlk2 |
T |
A |
11: 105,147,708 (GRCm39) |
H369Q |
probably benign |
Het |
Tnfaip8 |
A |
G |
18: 50,223,569 (GRCm39) |
T14A |
probably damaging |
Het |
Tspan17 |
T |
A |
13: 54,942,877 (GRCm39) |
C116* |
probably null |
Het |
Ttn |
T |
C |
2: 76,710,890 (GRCm39) |
|
probably benign |
Het |
Tyr |
T |
C |
7: 87,141,855 (GRCm39) |
Y158C |
probably null |
Het |
U2af1l4 |
G |
T |
7: 30,262,773 (GRCm39) |
|
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,282,939 (GRCm39) |
D559V |
probably damaging |
Het |
Wfikkn2 |
T |
A |
11: 94,129,902 (GRCm39) |
T80S |
probably benign |
Het |
Zdhhc2 |
T |
A |
8: 40,917,183 (GRCm39) |
|
probably null |
Het |
Zfp521 |
T |
C |
18: 13,977,111 (GRCm39) |
K1101E |
possibly damaging |
Het |
Zfp595 |
A |
T |
13: 67,465,229 (GRCm39) |
F345I |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,745,739 (GRCm39) |
R566S |
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 |
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 |
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'- TCCAAGTCACTGCAGTGTAAAATC -3'
(R):5'- ACTGCTGAAAGCCCCATCTG -3'
Sequencing Primer
(F):5'- GTCACTGCAGTGTAAAATCTCCAG -3'
(R):5'- TGAAAGCCCCATCTGGTTCTGG -3'
|
Posted On |
2015-11-11 |