Incidental Mutation 'R7776:Nr3c2'
| ID |
598899 |
| 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 |
045832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77636174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 425
(V425A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000034031
AA Change: V425A
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: V425A
| 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: V425A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: V425A
| 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 |
possibly damaging
Transcript: ENSMUST00000109912
AA Change: V425A
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: V425A
| 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 |
possibly damaging
Transcript: ENSMUST00000109913
AA Change: V425A
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: V425A
| 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 |
possibly damaging
Transcript: ENSMUST00000148106
AA Change: V425A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: V425A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,214 (GRCm39) |
|
probably null |
Het |
| Abca3 |
T |
A |
17: 24,605,250 (GRCm39) |
V716D |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,478,215 (GRCm39) |
V232A |
probably damaging |
Het |
| Arhgef10l |
T |
A |
4: 140,302,642 (GRCm39) |
I271F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,584 (GRCm39) |
M2157K |
possibly damaging |
Het |
| Capn13 |
G |
A |
17: 73,629,049 (GRCm39) |
S586L |
probably benign |
Het |
| Cd3g |
A |
T |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,704,603 (GRCm39) |
Y2826N |
unknown |
Het |
| Cmas |
T |
C |
6: 142,710,283 (GRCm39) |
V134A |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,469,814 (GRCm39) |
H250R |
probably damaging |
Het |
| Dact1 |
G |
A |
12: 71,364,688 (GRCm39) |
A453T |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,179,623 (GRCm39) |
R506* |
probably null |
Het |
| Dph1 |
A |
G |
11: 75,081,272 (GRCm39) |
V5A |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,387,568 (GRCm39) |
Y255C |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,957 (GRCm39) |
T1715S |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,539,334 (GRCm39) |
H466Q |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,246,181 (GRCm39) |
N1056S |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,502 (GRCm39) |
Q250L |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,301 (GRCm39) |
V327A |
unknown |
Het |
| Gm10226 |
T |
A |
17: 21,910,866 (GRCm39) |
C34S |
possibly damaging |
Het |
| H2bc6 |
A |
T |
13: 23,769,938 (GRCm39) |
M1K |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,296,960 (GRCm39) |
S436P |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,753,991 (GRCm39) |
A21E |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 12,930,127 (GRCm39) |
E49V |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,290,942 (GRCm39) |
E76G |
|
Het |
| Naa60 |
T |
C |
16: 3,718,573 (GRCm39) |
I135T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,713 (GRCm39) |
Y4924C |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,656 (GRCm39) |
I275F |
probably damaging |
Het |
| Nucb2 |
T |
A |
7: 116,128,248 (GRCm39) |
D286E |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,420 (GRCm39) |
G755S |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,429 (GRCm39) |
T316A |
probably damaging |
Het |
| Padi2 |
T |
A |
4: 140,651,656 (GRCm39) |
D135E |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,103,034 (GRCm39) |
S742R |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,007 (GRCm39) |
S601T |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,826,246 (GRCm39) |
N249S |
unknown |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prr15l |
T |
C |
11: 96,825,390 (GRCm39) |
W7R |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,368 (GRCm39) |
H1431Y |
possibly damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,592 (GRCm39) |
Q286* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,783,453 (GRCm39) |
I1149T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,674,086 (GRCm39) |
I80V |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,588,033 (GRCm39) |
D497G |
probably benign |
Het |
| Slc43a1 |
T |
A |
2: 84,671,197 (GRCm39) |
M44K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,890,035 (GRCm39) |
V841E |
possibly damaging |
Het |
| Stip1 |
T |
A |
19: 6,999,141 (GRCm39) |
H479L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,100,355 (GRCm39) |
Y1486H |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,282 (GRCm39) |
D324G |
probably damaging |
Het |
| Tgif1 |
T |
A |
17: 71,158,452 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,681,605 (GRCm39) |
E216G |
probably benign |
Het |
| Tmprss7 |
C |
A |
16: 45,488,014 (GRCm39) |
A472S |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,897,939 (GRCm39) |
F1191I |
probably benign |
Het |
| Tspan12 |
T |
A |
6: 21,836,442 (GRCm39) |
N40I |
probably damaging |
Het |
| Ttll3 |
AAGTA |
AAGTACAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Unc13c |
A |
T |
9: 73,602,232 (GRCm39) |
I1338N |
probably damaging |
Het |
| Vegfc |
T |
A |
8: 54,530,835 (GRCm39) |
S8T |
unknown |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,634 (GRCm39) |
Q42L |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,043,934 (GRCm39) |
I337F |
probably damaging |
Het |
| Xylb |
G |
A |
9: 119,209,766 (GRCm39) |
|
probably null |
Het |
| Zfp551 |
T |
A |
7: 12,152,569 (GRCm39) |
I55F |
probably damaging |
Het |
| Zfp972 |
T |
C |
2: 177,563,532 (GRCm39) |
N27S |
probably benign |
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 |
|
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'- TATACCACTTCAGGCGCTTCG -3'
(R):5'- TACTATCAAAGCCGGGCACAG -3'
Sequencing Primer
(F):5'- AGGATATGGTTCCCAGTCCAGAC -3'
(R):5'- CACAGGTGGTCCTAAGATTCCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation