Incidental Mutation 'R5169:Nr3c2'
| ID |
397450 |
| 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 |
042749-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5169 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77635666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 256
(N256Y)
|
| 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: N256Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: N256Y
| 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: N256Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: N256Y
| 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: N256Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: N256Y
| 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: N256Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: N256Y
| 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: N256Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: N256Y
| 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: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,841,552 (GRCm39) |
Y964* |
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,156,913 (GRCm39) |
K375R |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,520 (GRCm39) |
R415L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,750 (GRCm39) |
I1176N |
probably damaging |
Het |
| Arhgap25 |
A |
T |
6: 87,440,252 (GRCm39) |
I465N |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,980,051 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cdc37 |
T |
A |
9: 21,052,413 (GRCm39) |
M299L |
probably benign |
Het |
| Ddx54 |
C |
A |
5: 120,761,328 (GRCm39) |
H453Q |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,102,994 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,415,074 (GRCm39) |
F1939L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,345,202 (GRCm39) |
F631L |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,655,403 (GRCm39) |
Y597* |
probably null |
Het |
| Kctd1 |
T |
C |
18: 15,195,822 (GRCm39) |
E267G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,329 (GRCm39) |
T185A |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,774 (GRCm39) |
H233R |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,690,571 (GRCm39) |
I276T |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,188,900 (GRCm39) |
F122I |
probably benign |
Het |
| Milr1 |
C |
T |
11: 106,645,754 (GRCm39) |
R99* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,169,256 (GRCm39) |
|
probably null |
Het |
| Ms4a4d |
C |
T |
19: 11,535,340 (GRCm39) |
P213S |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,650,818 (GRCm39) |
N1100S |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,502,889 (GRCm39) |
I322T |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,198,231 (GRCm39) |
Q1287* |
probably null |
Het |
| Nrde2 |
A |
G |
12: 100,095,552 (GRCm39) |
|
probably null |
Het |
| Otog |
G |
T |
7: 45,947,572 (GRCm39) |
A2242S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,415 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdh8 |
G |
A |
14: 80,005,095 (GRCm39) |
P880S |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,129,632 (GRCm39) |
|
probably null |
Het |
| Phkb |
A |
G |
8: 86,623,120 (GRCm39) |
H148R |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,555,360 (GRCm39) |
S1106P |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,940,321 (GRCm39) |
M1067L |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,814,930 (GRCm39) |
G598V |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,223,196 (GRCm39) |
A267V |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,945,578 (GRCm39) |
P383S |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,295,324 (GRCm39) |
F231I |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,401,254 (GRCm39) |
D32E |
possibly damaging |
Het |
| Rpl32 |
G |
T |
6: 115,783,949 (GRCm39) |
N92K |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,829,457 (GRCm39) |
N391S |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,501,005 (GRCm39) |
E3563K |
possibly damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,286,126 (GRCm39) |
M508V |
probably benign |
Het |
| Shoc1 |
T |
A |
4: 59,059,618 (GRCm39) |
Y1014F |
possibly damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,482,184 (GRCm39) |
C614Y |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,309 (GRCm39) |
S486P |
probably damaging |
Het |
| Spi1 |
A |
T |
2: 90,945,428 (GRCm39) |
K170* |
probably null |
Het |
| Srgn |
C |
A |
10: 62,330,866 (GRCm39) |
D80Y |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,504,857 (GRCm39) |
K87R |
possibly damaging |
Het |
| Sytl3 |
A |
T |
17: 6,982,945 (GRCm39) |
K134* |
probably null |
Het |
| Szt2 |
T |
C |
4: 118,247,027 (GRCm39) |
T863A |
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,992,181 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,550,629 (GRCm39) |
L253* |
probably null |
Het |
| Timm8a2 |
T |
A |
14: 122,272,138 (GRCm39) |
S14T |
probably benign |
Het |
| Tppp3 |
G |
C |
8: 106,194,501 (GRCm39) |
N166K |
probably benign |
Het |
| Trav2 |
G |
A |
14: 52,804,759 (GRCm39) |
V4M |
probably benign |
Het |
| Trmt5 |
T |
C |
12: 73,329,495 (GRCm39) |
D221G |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,690 (GRCm39) |
L332* |
probably null |
Het |
| V1rd19 |
A |
G |
7: 23,703,209 (GRCm39) |
N225S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,274,184 (GRCm39) |
Q448L |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,657,515 (GRCm39) |
N185I |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,925,914 (GRCm39) |
I351N |
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 |
|
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'- ATGCCGTCTTCAGTATGCAGC -3'
(R):5'- AATGGACCCCACTGTGCTAG -3'
Sequencing Primer
(F):5'- TTCAGTATGCAGCCCCGC -3'
(R):5'- CCACTGTGCTAGCTGTCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation