Incidental Mutation 'IGL01395:Nr3c2'
ID |
79394 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nr3c2
|
Ensembl Gene |
ENSMUSG00000031618 |
Gene Name |
nuclear receptor subfamily 3, group C, member 2 |
Synonyms |
mineralocorticoid receptor, MR, aldosterone receptor, Mlr |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01395
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77635477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 193
(S193P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105537
(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: S193P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034031 Gene: ENSMUSG00000031618 AA Change: S193P
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: S193P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105537 Gene: ENSMUSG00000031618 AA Change: S193P
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: S193P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105538 Gene: ENSMUSG00000031618 AA Change: S193P
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: S193P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105539 Gene: ENSMUSG00000031618 AA Change: S193P
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: S193P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000118222 Gene: ENSMUSG00000031618 AA Change: S193P
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,575,880 (GRCm39) |
R52H |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,383 (GRCm39) |
Y84N |
possibly damaging |
Het |
B3gnt4 |
T |
A |
5: 123,649,131 (GRCm39) |
F165L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,198,919 (GRCm39) |
I157V |
probably benign |
Het |
Clpx |
T |
C |
9: 65,209,133 (GRCm39) |
S83P |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,812,980 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
G |
7: 144,011,464 (GRCm39) |
V115A |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,361 (GRCm39) |
V770I |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,717,164 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,338,056 (GRCm39) |
Y175* |
probably null |
Het |
Dhx58 |
C |
T |
11: 100,594,752 (GRCm39) |
G48D |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,854,979 (GRCm39) |
F178I |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,339 (GRCm39) |
I629T |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,654 (GRCm39) |
I492V |
probably benign |
Het |
Gm16505 |
G |
A |
13: 3,411,242 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
G |
A |
9: 118,364,441 (GRCm39) |
G259D |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,371,534 (GRCm39) |
H668R |
unknown |
Het |
Gucy2c |
G |
T |
6: 136,675,027 (GRCm39) |
Q1019K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,544 (GRCm39) |
|
probably null |
Het |
Jph2 |
T |
C |
2: 163,181,847 (GRCm39) |
N439S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,047 (GRCm39) |
D1249E |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,687 (GRCm39) |
V246A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,639,444 (GRCm39) |
D1295G |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,922,792 (GRCm39) |
M599K |
probably damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,165 (GRCm39) |
Q33L |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,350,225 (GRCm39) |
M514K |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,713 (GRCm39) |
F73L |
probably damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,460 (GRCm39) |
T110S |
possibly damaging |
Het |
Or9i2 |
A |
T |
19: 13,816,316 (GRCm39) |
S74T |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,216,368 (GRCm39) |
V569A |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,490,943 (GRCm39) |
H324R |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,847,374 (GRCm39) |
H155R |
possibly damaging |
Het |
Prpf19 |
C |
T |
19: 10,878,375 (GRCm39) |
T287I |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Pygb |
C |
A |
2: 150,643,503 (GRCm39) |
Q97K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,118,288 (GRCm39) |
K210E |
probably benign |
Het |
Rttn |
T |
G |
18: 89,147,894 (GRCm39) |
N2182K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,728 (GRCm39) |
Q18R |
probably damaging |
Het |
Stat4 |
C |
T |
1: 52,051,033 (GRCm39) |
R31W |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,846 (GRCm39) |
C128* |
probably null |
Het |
Tm9sf3 |
T |
C |
19: 41,244,715 (GRCm39) |
E54G |
probably damaging |
Het |
Tmx1 |
A |
T |
12: 70,507,251 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,613,939 (GRCm39) |
V859E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,194,158 (GRCm39) |
D1360G |
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 |
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 |
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 |
|
Posted On |
2013-11-05 |