Incidental Mutation 'R8743:Nr3c2'
| ID |
663353 |
| 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 |
068588-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77636387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 496
(E496G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105538
(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: E496G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: E496G
| 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: E496G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: E496G
| 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: E496G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: E496G
| 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: E496G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: E496G
| 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: E496G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: E496G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,264 (GRCm39) |
C468S |
probably damaging |
Het |
| Adamts7 |
G |
A |
9: 90,077,296 (GRCm39) |
R1321H |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,792 (GRCm39) |
V188A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,564,423 (GRCm39) |
N323D |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,638,876 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,667,882 (GRCm39) |
|
probably null |
Het |
| Armc1 |
C |
T |
3: 19,211,700 (GRCm39) |
C40Y |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,214,928 (GRCm39) |
V309F |
probably damaging |
Het |
| Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,033,286 (GRCm39) |
L1237P |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,702,020 (GRCm39) |
E19G |
probably damaging |
Het |
| Ccr2 |
A |
C |
9: 123,906,131 (GRCm39) |
Y137S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,046,323 (GRCm39) |
|
probably null |
Het |
| Chd5 |
T |
A |
4: 152,450,862 (GRCm39) |
V662E |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,057,220 (GRCm39) |
D544G |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Coro6 |
T |
A |
11: 77,357,265 (GRCm39) |
I158N |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,642,992 (GRCm39) |
S307G |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,081,587 (GRCm39) |
M583K |
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,223,252 (GRCm39) |
S1170* |
probably null |
Het |
| Dusp16 |
A |
T |
6: 134,694,933 (GRCm39) |
S633T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,572,123 (GRCm39) |
E739G |
probably damaging |
Het |
| Fam193a |
T |
A |
5: 34,577,501 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
A |
3: 38,942,592 (GRCm39) |
S495N |
probably benign |
Het |
| Galnt10 |
A |
G |
11: 57,675,409 (GRCm39) |
Y556C |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,814 (GRCm39) |
T633S |
|
Het |
| Gc |
A |
T |
5: 89,591,311 (GRCm39) |
D142E |
probably benign |
Het |
| Gda |
A |
T |
19: 21,377,952 (GRCm39) |
F369Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,968,103 (GRCm39) |
S349R |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,612,901 (GRCm39) |
L351P |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,764,284 (GRCm39) |
Y323F |
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,598,858 (GRCm39) |
N589D |
probably damaging |
Het |
| Hsd17b3 |
A |
C |
13: 64,210,712 (GRCm39) |
D214E |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,022 (GRCm39) |
D1459G |
possibly damaging |
Het |
| Lad1 |
G |
A |
1: 135,758,933 (GRCm39) |
R465H |
probably benign |
Het |
| Lcmt1 |
T |
A |
7: 122,999,691 (GRCm39) |
D46E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,741,427 (GRCm39) |
R796L |
probably benign |
Het |
| Nat8l |
T |
A |
5: 34,154,510 (GRCm39) |
L108Q |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,118,172 (GRCm39) |
V632A |
probably benign |
Het |
| Nucb2 |
A |
G |
7: 116,128,065 (GRCm39) |
D258G |
probably damaging |
Het |
| Or8b12 |
G |
T |
9: 37,658,174 (GRCm39) |
C248F |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,738,995 (GRCm39) |
I3F |
probably benign |
Het |
| Papln |
A |
G |
12: 83,829,764 (GRCm39) |
K962E |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,372 (GRCm39) |
M618K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,764,580 (GRCm39) |
D1066G |
|
Het |
| Phip |
A |
T |
9: 82,809,140 (GRCm39) |
M446K |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,973,318 (GRCm39) |
K380R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,000,017 (GRCm39) |
T198A |
unknown |
Het |
| Ppa1 |
C |
A |
10: 61,496,758 (GRCm39) |
A82E |
possibly damaging |
Het |
| Prune2 |
A |
C |
19: 17,096,920 (GRCm39) |
D808A |
probably benign |
Het |
| Psme4 |
T |
G |
11: 30,828,467 (GRCm39) |
L1829R |
probably damaging |
Het |
| Rtp4 |
A |
C |
16: 23,431,866 (GRCm39) |
K133Q |
possibly damaging |
Het |
| Scaf11 |
C |
T |
15: 96,313,669 (GRCm39) |
A1371T |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,931 (GRCm39) |
H267L |
probably benign |
Het |
| Slc47a2 |
T |
G |
11: 61,233,588 (GRCm39) |
D6A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,765,255 (GRCm39) |
V329D |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,859 (GRCm39) |
S377P |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,030 (GRCm39) |
H121R |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,369 (GRCm39) |
Y303F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,985,418 (GRCm39) |
D407G |
probably damaging |
Het |
| Twf2 |
A |
G |
9: 106,090,010 (GRCm39) |
E153G |
possibly damaging |
Het |
| Upb1 |
A |
G |
10: 75,275,710 (GRCm39) |
Y365C |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,317,247 (GRCm39) |
S164T |
possibly damaging |
Het |
| Wtip |
C |
T |
7: 33,824,979 (GRCm39) |
G202R |
possibly damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,309,084 (GRCm39) |
C770Y |
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 |
|
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 |
|
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'- TCAGGCGCCTCTTTTAAAGGG -3'
(R):5'- TCCTAGATGACAGGTCACCGTG -3'
Sequencing Primer
(F):5'- GAACCCCACAGTCAACCCATTTC -3'
(R):5'- TGACTCCACTAATGCATTGACAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation