Incidental Mutation 'R1737:Nr3c2'
| ID |
199786 |
| 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 |
039769-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1737 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77634958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 20
(S20R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116008
(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: S20R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: S20R
| 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: S20R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: S20R
| 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: S20R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: S20R
| 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: S20R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: S20R
| 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
AA Change: S20R
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143284
AA Change: S20R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148106
AA Change: S20R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: S20R
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.4%
|
| Validation Efficiency |
100% (75/75) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
G |
A |
12: 105,708,591 (GRCm39) |
V349M |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,192,453 (GRCm39) |
E436V |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,450,075 (GRCm39) |
P2290T |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,476,986 (GRCm39) |
|
probably benign |
Het |
| Bahd1 |
T |
C |
2: 118,746,404 (GRCm39) |
S8P |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,862,677 (GRCm39) |
Y28H |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 18,964,149 (GRCm39) |
I104F |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,703,061 (GRCm39) |
D508G |
possibly damaging |
Het |
| Ces2a |
G |
T |
8: 105,467,456 (GRCm39) |
A494S |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,553 (GRCm39) |
T123M |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,474,904 (GRCm39) |
S1102P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,610,733 (GRCm39) |
D224Y |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,208,357 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,848 (GRCm39) |
T122S |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,857,000 (GRCm39) |
|
probably null |
Het |
| Eid2 |
T |
C |
7: 27,967,924 (GRCm39) |
V182A |
possibly damaging |
Het |
| Eloa |
A |
T |
4: 135,738,081 (GRCm39) |
V293D |
probably benign |
Het |
| Enkur |
G |
A |
2: 21,199,106 (GRCm39) |
P143S |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,510,548 (GRCm39) |
Y99H |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,596 (GRCm39) |
L66I |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,110,928 (GRCm39) |
R985S |
unknown |
Het |
| Fscb |
A |
T |
12: 64,521,355 (GRCm39) |
I37K |
possibly damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,679,296 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Q7 |
A |
C |
17: 35,658,602 (GRCm39) |
Y80S |
probably damaging |
Het |
| H60c |
A |
T |
10: 3,209,914 (GRCm39) |
D124E |
possibly damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,862 (GRCm39) |
V361E |
probably damaging |
Het |
| Ice1 |
A |
C |
13: 70,754,444 (GRCm39) |
C547W |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,945,289 (GRCm39) |
D670V |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,635,303 (GRCm39) |
V171A |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,783 (GRCm39) |
Q114L |
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,278,213 (GRCm39) |
M280T |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,109,916 (GRCm39) |
R2179Q |
probably benign |
Het |
| Mbd3l1 |
C |
T |
9: 18,396,225 (GRCm39) |
P117S |
possibly damaging |
Het |
| Med18 |
A |
T |
4: 132,187,420 (GRCm39) |
S71R |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,895,607 (GRCm39) |
I643N |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,416,826 (GRCm39) |
K70E |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,628,955 (GRCm39) |
F356L |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,978,533 (GRCm39) |
R567H |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,045 (GRCm39) |
S91G |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,911 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,179,637 (GRCm39) |
L55P |
probably damaging |
Het |
| Or6c88 |
T |
A |
10: 129,406,697 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,338,254 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,009 (GRCm39) |
T362A |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,374,404 (GRCm39) |
V59E |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,905 (GRCm39) |
|
probably null |
Het |
| Prr36 |
T |
C |
8: 4,264,370 (GRCm39) |
|
probably benign |
Het |
| Ptger2 |
A |
G |
14: 45,239,228 (GRCm39) |
T289A |
probably benign |
Het |
| Rad18 |
A |
G |
6: 112,658,498 (GRCm39) |
F136L |
probably damaging |
Het |
| Rhbg |
T |
A |
3: 88,153,181 (GRCm39) |
S258C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,739 (GRCm39) |
I34M |
possibly damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,162 (GRCm39) |
T135K |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,035,582 (GRCm39) |
I193M |
probably damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,023,504 (GRCm39) |
V47I |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,094,766 (GRCm39) |
V786M |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,193,875 (GRCm39) |
L350P |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,681 (GRCm39) |
F576I |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,924,598 (GRCm39) |
V496E |
probably benign |
Het |
| Tcl1b3 |
C |
A |
12: 105,157,481 (GRCm39) |
S41Y |
probably damaging |
Het |
| Tulp2 |
A |
T |
7: 45,169,201 (GRCm39) |
N256I |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,138,668 (GRCm39) |
C349S |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,070,604 (GRCm39) |
I730T |
probably damaging |
Het |
| Vmn1r61 |
A |
T |
7: 5,614,060 (GRCm39) |
F85I |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,710,403 (GRCm39) |
T709A |
probably benign |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
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 |
|
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'- TGTTCTTTACAAACTGCCAAGGCCC -3'
(R):5'- TCTGATGGCAAAATCCCAGACCG -3'
Sequencing Primer
(F):5'- GCAATTGGTTCTTCTGGATTCTAAAG -3'
(R):5'- AGACCGACTATTGTCTTGCTGAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation