Incidental Mutation 'R5857:Nr3c2'
| ID |
454963 |
| 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 |
044069-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77635496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 199
(N199S)
|
| 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: N199S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: N199S
| 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: N199S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: N199S
| 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: N199S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: N199S
| 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: N199S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: N199S
| 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: N199S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: N199S
| 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 |
0.0699 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,342,405 (GRCm39) |
A229V |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,475,442 (GRCm39) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
| Ctnnbl1 |
T |
C |
2: 157,631,018 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,333,640 (GRCm39) |
V1066D |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
| Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
| Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
| Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
| Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 163,886,175 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,128,014 (GRCm39) |
Y946H |
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 |
|
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'- GGAGCAGCTGGTGAAGTTTTAC -3'
(R):5'- AAATTGGGGATTTCATGCTGC -3'
Sequencing Primer
(F):5'- TTTACAAAGAGAATGGTCACAGGTCC -3'
(R):5'- CATGCTGCTTAATGGACTTGAAAGAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation