Incidental Mutation 'R3808:Nr3c2'
ID |
275040 |
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 |
040765-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3808 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 77635343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 148
(G148D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118222
(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: G148D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034031 Gene: ENSMUSG00000031618 AA Change: G148D
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 damaging
Transcript: ENSMUST00000109911
AA Change: G148D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105537 Gene: ENSMUSG00000031618 AA Change: G148D
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: G148D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105538 Gene: ENSMUSG00000031618 AA Change: G148D
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: G148D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105539 Gene: ENSMUSG00000031618 AA Change: G148D
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: G148D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118222 Gene: ENSMUSG00000031618 AA Change: G148D
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: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aldh3a2 |
G |
T |
11: 61,149,623 (GRCm39) |
L248M |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,209,609 (GRCm39) |
S1458P |
probably benign |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
Arhgap5 |
A |
G |
12: 52,613,970 (GRCm39) |
E192G |
possibly damaging |
Het |
Atg2a |
A |
G |
19: 6,302,846 (GRCm39) |
K1019R |
possibly damaging |
Het |
Atp2b1 |
A |
G |
10: 98,839,010 (GRCm39) |
K613E |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,498,258 (GRCm39) |
C421R |
probably damaging |
Het |
Cdh17 |
A |
T |
4: 11,795,671 (GRCm39) |
Y417F |
probably damaging |
Het |
Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
Clptm1l |
A |
C |
13: 73,760,573 (GRCm39) |
M319L |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
Creb3l2 |
A |
G |
6: 37,332,625 (GRCm39) |
S290P |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,722,809 (GRCm39) |
V305G |
probably damaging |
Het |
Dtl |
A |
C |
1: 191,280,466 (GRCm39) |
L356R |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,732,289 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
Fat4 |
T |
G |
3: 39,036,587 (GRCm39) |
V3413G |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,801,578 (GRCm39) |
M218V |
probably benign |
Het |
Grin2b |
A |
G |
6: 135,900,269 (GRCm39) |
L204P |
probably damaging |
Het |
Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,307,047 (GRCm39) |
D389E |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,625,269 (GRCm39) |
N2274S |
probably benign |
Het |
Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
Plin3 |
C |
A |
17: 56,593,275 (GRCm39) |
A96S |
probably damaging |
Het |
Pnck |
T |
A |
X: 72,700,550 (GRCm39) |
I288F |
probably damaging |
Het |
Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
Prss43 |
A |
T |
9: 110,656,840 (GRCm39) |
R115S |
probably damaging |
Het |
Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
Rdh16f1 |
T |
A |
10: 127,624,568 (GRCm39) |
D135E |
probably benign |
Het |
Rdh16f1 |
G |
A |
10: 127,624,569 (GRCm39) |
V136M |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,189,698 (GRCm39) |
E702G |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,384 (GRCm39) |
K4728E |
probably damaging |
Het |
Ros1 |
T |
G |
10: 51,996,944 (GRCm39) |
T1243P |
probably benign |
Het |
Sall1 |
G |
A |
8: 89,758,101 (GRCm39) |
Q668* |
probably null |
Het |
Sbf2 |
C |
A |
7: 110,088,487 (GRCm39) |
*45L |
probably null |
Het |
Serpina3j |
A |
T |
12: 104,286,086 (GRCm39) |
I414F |
probably benign |
Het |
Sh2d3c |
T |
C |
2: 32,636,108 (GRCm39) |
Y159H |
probably damaging |
Het |
Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
Slc22a13 |
T |
C |
9: 119,025,143 (GRCm39) |
T178A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,736,536 (GRCm39) |
L588H |
probably damaging |
Het |
Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,466,772 (GRCm39) |
V654A |
probably benign |
Het |
Vmn1r202 |
T |
C |
13: 22,686,070 (GRCm39) |
T116A |
possibly damaging |
Het |
Zfp267 |
T |
G |
3: 36,219,792 (GRCm39) |
|
probably null |
Het |
Zfp607a |
G |
A |
7: 27,578,826 (GRCm39) |
R632H |
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 |
|
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'- CTGAGCTGGAATCCAAGGAAC -3'
(R):5'- GAAACTGCCAAAGCTAGCTG -3'
Sequencing Primer
(F):5'- AGGAACTTTCAGCCACGGTG -3'
(R):5'- ACATGGAGTTGATGCCCG -3'
|
Posted On |
2015-04-02 |