Incidental Mutation 'R2281:Nr3c2'
| ID |
243135 |
| 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 |
040280-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77636536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 546
(H546N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118222
(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: H546N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: H546N
| 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 |
probably benign
Transcript: ENSMUST00000109911
AA Change: H546N
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: H546N
| 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 benign
Transcript: ENSMUST00000109912
AA Change: H546N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: H546N
| 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: ENSMUST00000109913
AA Change: H546N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: H546N
| 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 damaging
Transcript: ENSMUST00000148106
AA Change: H546N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: H546N
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,352,179 (GRCm39) |
L228S |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,278,136 (GRCm39) |
K3105N |
probably damaging |
Het |
| Abca3 |
T |
A |
17: 24,595,700 (GRCm39) |
L351Q |
possibly damaging |
Het |
| Acadm |
A |
G |
3: 153,638,680 (GRCm39) |
I231T |
possibly damaging |
Het |
| Adamts4 |
A |
T |
1: 171,083,798 (GRCm39) |
Q456L |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,159,222 (GRCm39) |
V343I |
probably benign |
Het |
| Ajuba |
C |
A |
14: 54,814,645 (GRCm39) |
G26V |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,597,455 (GRCm39) |
I145M |
possibly damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,274,981 (GRCm39) |
Q110* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,549,832 (GRCm39) |
D771G |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,216,896 (GRCm39) |
D21G |
probably damaging |
Het |
| Atg13 |
T |
C |
2: 91,509,770 (GRCm39) |
N374S |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,852,365 (GRCm39) |
E160G |
probably damaging |
Het |
| Cpd |
T |
C |
11: 76,688,627 (GRCm39) |
K882E |
probably benign |
Het |
| Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
| Cyp27b1 |
T |
G |
10: 126,884,163 (GRCm39) |
V5G |
probably damaging |
Het |
| Dcaf11 |
G |
T |
14: 55,806,828 (GRCm39) |
*550Y |
probably null |
Het |
| Dhx58 |
A |
G |
11: 100,588,980 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
T |
A |
7: 92,087,249 (GRCm39) |
I881N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,673,673 (GRCm39) |
T407M |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
| Egln1 |
T |
C |
8: 125,675,153 (GRCm39) |
D214G |
probably benign |
Het |
| Espn |
T |
C |
4: 152,220,002 (GRCm39) |
T47A |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,023,289 (GRCm39) |
I1616V |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,867,463 (GRCm39) |
K52R |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
| Glod4 |
A |
T |
11: 76,128,635 (GRCm39) |
I70N |
possibly damaging |
Het |
| Gsn |
T |
A |
2: 35,173,930 (GRCm39) |
V2E |
probably benign |
Het |
| H1f2 |
A |
G |
13: 23,922,907 (GRCm39) |
K26E |
probably benign |
Het |
| Hrg |
C |
T |
16: 22,780,059 (GRCm39) |
|
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,113,898 (GRCm39) |
T592A |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,941,472 (GRCm39) |
D521G |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,410 (GRCm39) |
H2744R |
possibly damaging |
Het |
| Lsr |
C |
T |
7: 30,657,770 (GRCm39) |
A397T |
probably damaging |
Het |
| Methig1 |
A |
T |
15: 100,251,241 (GRCm39) |
M51L |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,734,204 (GRCm39) |
I351V |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,307,084 (GRCm39) |
V250I |
possibly damaging |
Het |
| Mreg |
A |
T |
1: 72,231,223 (GRCm39) |
N78K |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,574,012 (GRCm39) |
D1294G |
probably benign |
Het |
| Nfkb1 |
T |
C |
3: 135,307,282 (GRCm39) |
I548V |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,439,962 (GRCm39) |
F513S |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 57,002,211 (GRCm39) |
M18L |
probably benign |
Het |
| Or2y1f |
A |
C |
11: 49,184,459 (GRCm39) |
T104P |
probably benign |
Het |
| Or4c109 |
G |
A |
2: 88,817,814 (GRCm39) |
T244I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,590,346 (GRCm39) |
N882S |
unknown |
Het |
| Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,227,107 (GRCm39) |
R229L |
probably damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,810 (GRCm39) |
G389V |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,851 (GRCm39) |
N249S |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,036,508 (GRCm39) |
I266T |
possibly damaging |
Het |
| Smyd1 |
T |
C |
6: 71,215,660 (GRCm39) |
N100D |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,296,546 (GRCm39) |
F468S |
probably damaging |
Het |
| Stk31 |
C |
T |
6: 49,394,184 (GRCm39) |
T182I |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,082,677 (GRCm39) |
N1982K |
possibly damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,060,786 (GRCm39) |
Y344H |
probably damaging |
Het |
| Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,429,029 (GRCm39) |
I870T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,302,436 (GRCm39) |
L1035Q |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,601 (GRCm39) |
|
probably null |
Het |
| Zc3h7a |
T |
C |
16: 10,976,458 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
probably damaging |
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 |
|
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'- TTGATAGTAGCTGTGAAGGCAG -3'
(R):5'- ACCATGATTTTCAGAGATGGGGC -3'
Sequencing Primer
(F):5'- AAGGCAGTGCGTTCCCG -3'
(R):5'- TTTTCAGAGATGGGGCAGGGAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation