Incidental Mutation 'R2110:Nr3c2'
| ID |
232460 |
| 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 |
040114-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2110 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77635156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 86
(S86P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000034031
AA Change: S86P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: S86P
| 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: S86P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: S86P
| 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: S86P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: S86P
| 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: S86P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: S86P
| 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: ENSMUST00000128862
AA Change: S86P
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143284
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148106
AA Change: S86P
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: S86P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330161L09Rik |
T |
C |
12: 103,373,848 (GRCm39) |
|
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,032,245 (GRCm39) |
D638G |
possibly damaging |
Het |
| Adam1b |
A |
G |
5: 121,638,777 (GRCm39) |
|
probably benign |
Het |
| Aim2 |
T |
C |
1: 173,287,279 (GRCm39) |
M93T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,151 (GRCm39) |
E414G |
possibly damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,613 (GRCm39) |
F51L |
probably damaging |
Het |
| Bard1 |
T |
A |
1: 71,114,550 (GRCm39) |
K144* |
probably null |
Het |
| Begain |
G |
T |
12: 108,999,843 (GRCm39) |
Y514* |
probably null |
Het |
| Ccdc186 |
A |
T |
19: 56,788,574 (GRCm39) |
I545N |
possibly damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,438 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,824,197 (GRCm39) |
Y58C |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,229 (GRCm39) |
D2437E |
unknown |
Het |
| Chd2 |
A |
G |
7: 73,079,735 (GRCm39) |
S1722P |
probably benign |
Het |
| Clec5a |
C |
T |
6: 40,562,137 (GRCm39) |
G9E |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,585,214 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Col3a1 |
C |
T |
1: 45,369,305 (GRCm39) |
P331S |
unknown |
Het |
| Ctsk |
T |
C |
3: 95,413,988 (GRCm39) |
I245T |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 62,979,251 (GRCm39) |
Y304H |
probably damaging |
Het |
| Dthd1 |
T |
C |
5: 63,000,222 (GRCm39) |
S515P |
probably damaging |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,174,699 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
C |
T |
3: 95,643,254 (GRCm39) |
A349T |
probably benign |
Het |
| Efemp2 |
A |
G |
19: 5,525,190 (GRCm39) |
E32G |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,516,131 (GRCm39) |
T78K |
probably benign |
Het |
| Foxg1 |
A |
G |
12: 49,431,708 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
C |
4: 147,954,619 (GRCm39) |
V395A |
possibly damaging |
Het |
| Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
| Gpha2 |
T |
G |
19: 6,277,532 (GRCm39) |
V96G |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,293,719 (GRCm39) |
Y228C |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,288,458 (GRCm39) |
R470G |
possibly damaging |
Het |
| Ildr1 |
A |
G |
16: 36,542,341 (GRCm39) |
E247G |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,931,345 (GRCm39) |
M646K |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,388,648 (GRCm39) |
H2259L |
unknown |
Het |
| Map1b |
A |
T |
13: 99,567,629 (GRCm39) |
H1697Q |
unknown |
Het |
| Mdn1 |
A |
G |
4: 32,700,409 (GRCm39) |
E1456G |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,095,248 (GRCm39) |
T467I |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Ncoa5 |
C |
A |
2: 164,854,838 (GRCm39) |
D95Y |
possibly damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,678,879 (GRCm39) |
C836* |
probably null |
Het |
| Nup153 |
A |
G |
13: 46,837,404 (GRCm39) |
S1273P |
probably benign |
Het |
| Or8g52 |
G |
A |
9: 39,631,018 (GRCm39) |
R165Q |
probably benign |
Het |
| Pcsk5 |
C |
A |
19: 17,450,423 (GRCm39) |
G1142C |
probably damaging |
Het |
| Pgghg |
A |
G |
7: 140,523,453 (GRCm39) |
D244G |
possibly damaging |
Het |
| Polr1has |
T |
C |
17: 37,276,336 (GRCm39) |
V306A |
possibly damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,444,321 (GRCm39) |
P297S |
probably benign |
Het |
| Rad52 |
A |
T |
6: 119,897,855 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Rhpn1 |
T |
A |
15: 75,585,083 (GRCm39) |
F507I |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,076,433 (GRCm39) |
M328T |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,254,665 (GRCm39) |
I298V |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,184 (GRCm39) |
V120A |
probably benign |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Serpina3a |
G |
A |
12: 104,082,481 (GRCm39) |
A85T |
probably damaging |
Het |
| Slc16a11 |
G |
A |
11: 70,106,146 (GRCm39) |
G80D |
probably damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
| Sparcl1 |
T |
A |
5: 104,236,289 (GRCm39) |
Q488L |
probably damaging |
Het |
| Spg21 |
T |
A |
9: 65,391,711 (GRCm39) |
|
probably null |
Het |
| Spopfm2 |
A |
G |
3: 94,082,834 (GRCm39) |
S326P |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,901 (GRCm39) |
H253R |
unknown |
Het |
| Swt1 |
A |
G |
1: 151,279,636 (GRCm39) |
S391P |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,033,888 (GRCm39) |
Y200C |
probably damaging |
Het |
| Utp15 |
T |
C |
13: 98,391,493 (GRCm39) |
H248R |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,603,313 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,179 (GRCm39) |
M146K |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,685,453 (GRCm39) |
K399N |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 82,975,536 (GRCm39) |
D578G |
probably damaging |
Het |
| Zfp90 |
G |
A |
8: 107,152,120 (GRCm39) |
C611Y |
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 |
|
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'- CTTCTCTTGGACCTGCAGAGAG -3'
(R):5'- CCTCAAAGGCCTGCTTATAGC -3'
Sequencing Primer
(F):5'- CCTGCAGAGAGGACCAATG -3'
(R):5'- CTTATAGCACTCAGTGTGGAGGACC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation