Incidental Mutation 'R7741:Nr3c2'
| ID |
596548 |
| 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 |
045797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77937275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 834
(E834G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034031]
[ENSMUST00000109911]
[ENSMUST00000109912]
[ENSMUST00000109913]
[ENSMUST00000148106]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034031
AA Change: E838G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: E838G
| 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: E721G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: E721G
| 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: E834G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: E834G
| 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: E834G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: E834G
| 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: ENSMUST00000148106
AA Change: R673G
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: R673G
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,290,551 (GRCm39) |
P118S |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,656,343 (GRCm39) |
D215E |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,914 (GRCm39) |
D755G |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,194,332 (GRCm39) |
D109V |
possibly damaging |
Het |
| Brdt |
G |
A |
5: 107,506,752 (GRCm39) |
R445H |
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,307,288 (GRCm39) |
E517* |
probably null |
Het |
| Celsr1 |
A |
T |
15: 85,863,303 (GRCm39) |
V1243E |
possibly damaging |
Het |
| Cenpe |
C |
G |
3: 134,953,096 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,778,817 (GRCm39) |
E748G |
probably damaging |
Het |
| Cfap119 |
C |
A |
7: 127,187,159 (GRCm39) |
V35L |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Col6a1 |
C |
A |
10: 76,545,743 (GRCm39) |
A910S |
unknown |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Dot1l |
C |
T |
10: 80,619,378 (GRCm39) |
R412W |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,594 (GRCm39) |
T555A |
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,587 (GRCm39) |
N438S |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,001 (GRCm39) |
F320S |
probably damaging |
Het |
| Grn |
A |
G |
11: 102,326,560 (GRCm39) |
H413R |
probably damaging |
Het |
| Gstm7 |
A |
T |
3: 107,838,963 (GRCm39) |
M3K |
possibly damaging |
Het |
| Il17rd |
A |
G |
14: 26,822,293 (GRCm39) |
E673G |
probably damaging |
Het |
| Klhl29 |
T |
C |
12: 5,187,500 (GRCm39) |
D288G |
possibly damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,426,421 (GRCm39) |
A79T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,719,359 (GRCm39) |
V3914A |
unknown |
Het |
| Map2k2 |
T |
C |
10: 80,956,877 (GRCm39) |
V307A |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,784,319 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,764,501 (GRCm39) |
L213H |
probably damaging |
Het |
| Ogfod3 |
T |
G |
11: 121,074,362 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,423 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,614 (GRCm39) |
L68P |
probably damaging |
Het |
| Plscr4 |
A |
T |
9: 92,364,693 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
A |
G |
1: 165,703,444 (GRCm39) |
S749P |
probably damaging |
Het |
| Ppp4r3b |
T |
G |
11: 29,155,701 (GRCm39) |
L556V |
possibly damaging |
Het |
| Psd4 |
T |
G |
2: 24,291,108 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
T |
C |
4: 129,228,356 (GRCm39) |
D33G |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,557,067 (GRCm39) |
K439E |
probably benign |
Het |
| Scgb2b7 |
A |
G |
7: 31,404,454 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
A |
G |
12: 8,841,370 (GRCm39) |
D237G |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,357,593 (GRCm39) |
Y133C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,523,587 (GRCm39) |
|
probably null |
Het |
| Snx7 |
A |
G |
3: 117,632,488 (GRCm39) |
F201S |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,438 (GRCm39) |
V124I |
possibly damaging |
Het |
| Tbx20 |
A |
T |
9: 24,651,581 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,197,756 (GRCm39) |
N445I |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,709,263 (GRCm39) |
I31K |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,179,088 (GRCm39) |
V499E |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,500,743 (GRCm39) |
W258* |
probably null |
Het |
| Usp32 |
G |
T |
11: 84,878,107 (GRCm39) |
D1543E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,521 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,361,020 (GRCm39) |
S197P |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,971,835 (GRCm39) |
S497P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,008,637 (GRCm39) |
P201Q |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,157,847 (GRCm39) |
Q783R |
possibly 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 |
|
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'- TTCTCACAGGGAGTTCGTGG -3'
(R):5'- TCTCATGCAGGGAAGATGATCTG -3'
Sequencing Primer
(F):5'- CGTGGGGCTTTAGAAACCATTGAC -3'
(R):5'- TCTGACAATGTAGAAAGAGTGCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation