Incidental Mutation 'R6547:Nr3c2'
ID |
521280 |
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 |
044672-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6547 (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 T
at 77635438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 180
(I180F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105537
(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 benign
Transcript: ENSMUST00000034031
AA Change: I180F
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000034031 Gene: ENSMUSG00000031618 AA Change: I180F
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: I180F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105537 Gene: ENSMUSG00000031618 AA Change: I180F
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 benign
Transcript: ENSMUST00000109912
AA Change: I180F
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105538 Gene: ENSMUSG00000031618 AA Change: I180F
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: ENSMUST00000109913
AA Change: I180F
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105539 Gene: ENSMUSG00000031618 AA Change: I180F
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 benign
Transcript: ENSMUST00000148106
AA Change: I180F
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000118222 Gene: ENSMUSG00000031618 AA Change: I180F
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: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
98% (53/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,490,251 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
A |
11: 9,224,757 (GRCm39) |
V490E |
probably benign |
Het |
Abca2 |
G |
T |
2: 25,323,350 (GRCm39) |
G106V |
possibly damaging |
Het |
Ablim3 |
T |
C |
18: 61,957,000 (GRCm39) |
T276A |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,519,461 (GRCm39) |
V119A |
probably benign |
Het |
Arl9 |
A |
G |
5: 77,158,257 (GRCm39) |
|
probably null |
Het |
Atm |
T |
C |
9: 53,351,457 (GRCm39) |
Y2964C |
probably damaging |
Het |
Bbs9 |
T |
C |
9: 22,425,365 (GRCm39) |
Y140H |
probably benign |
Het |
Calcr |
A |
T |
6: 3,717,177 (GRCm39) |
D94E |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,706,327 (GRCm39) |
Y937N |
probably damaging |
Het |
Cemip2 |
A |
T |
19: 21,822,195 (GRCm39) |
T1197S |
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,442,708 (GRCm39) |
A779T |
probably damaging |
Het |
Clec9a |
T |
A |
6: 129,393,339 (GRCm39) |
V94D |
probably benign |
Het |
Colec12 |
G |
T |
18: 9,840,351 (GRCm39) |
L57F |
probably damaging |
Het |
Fa2h |
T |
C |
8: 112,074,652 (GRCm39) |
Y317C |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,448,607 (GRCm39) |
T1282A |
probably damaging |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Hcn2 |
G |
T |
10: 79,552,986 (GRCm39) |
V162L |
probably benign |
Het |
Hycc1 |
T |
C |
5: 24,170,098 (GRCm39) |
N417S |
probably benign |
Het |
Kbtbd11 |
T |
A |
8: 15,077,641 (GRCm39) |
V80E |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,949,652 (GRCm39) |
D915G |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,186,117 (GRCm39) |
E806V |
probably damaging |
Het |
Mppe1 |
T |
C |
18: 67,362,059 (GRCm39) |
I169V |
probably benign |
Het |
Msc |
A |
C |
1: 14,825,969 (GRCm39) |
S2A |
possibly damaging |
Het |
Nploc4 |
A |
G |
11: 120,319,348 (GRCm39) |
|
probably null |
Het |
Nrap |
G |
T |
19: 56,339,998 (GRCm39) |
H840N |
probably benign |
Het |
Or8a1 |
T |
A |
9: 37,641,791 (GRCm39) |
M163L |
probably benign |
Het |
Pate13 |
T |
A |
9: 35,819,781 (GRCm39) |
M15K |
probably null |
Het |
Pdlim1 |
G |
A |
19: 40,211,564 (GRCm39) |
T243I |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,831,188 (GRCm39) |
M318L |
probably benign |
Het |
Rap1gds1 |
C |
A |
3: 138,661,099 (GRCm39) |
R426L |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,572,226 (GRCm39) |
N674D |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,240,528 (GRCm39) |
T875I |
unknown |
Het |
Rtn1 |
G |
T |
12: 72,355,535 (GRCm39) |
S137Y |
possibly damaging |
Het |
Scn2a |
A |
G |
2: 65,546,241 (GRCm39) |
I935V |
probably benign |
Het |
Serpina1a |
C |
T |
12: 103,822,180 (GRCm39) |
V251M |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,621 (GRCm39) |
V132A |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,737,981 (GRCm39) |
|
probably null |
Het |
Slc2a5 |
T |
A |
4: 150,220,076 (GRCm39) |
V164D |
possibly damaging |
Het |
Slc4a1 |
T |
A |
11: 102,247,561 (GRCm39) |
T441S |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,920,042 (GRCm39) |
I366V |
possibly damaging |
Het |
Syt14 |
G |
T |
1: 192,584,177 (GRCm39) |
H696N |
possibly damaging |
Het |
Tcaim |
T |
A |
9: 122,643,531 (GRCm39) |
V77D |
probably benign |
Het |
Tefm |
T |
G |
11: 80,031,210 (GRCm39) |
|
probably null |
Het |
Tekt3 |
T |
A |
11: 62,961,304 (GRCm39) |
S158T |
possibly damaging |
Het |
Tspan11 |
T |
A |
6: 127,926,766 (GRCm39) |
M238K |
possibly damaging |
Het |
Unc5c |
A |
T |
3: 141,495,780 (GRCm39) |
T476S |
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,444,612 (GRCm39) |
L109Q |
probably damaging |
Homo |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vps13c |
C |
A |
9: 67,880,647 (GRCm39) |
Q3495K |
probably damaging |
Het |
Zbtb10 |
G |
A |
3: 9,316,763 (GRCm39) |
A192T |
probably benign |
Het |
Zfp316 |
A |
T |
5: 143,239,952 (GRCm39) |
V689D |
probably damaging |
Het |
Zswim1 |
A |
G |
2: 164,666,716 (GRCm39) |
|
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,844,100 (GRCm39) |
L1046P |
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 |
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 |
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'- TGTGAGAGATGCCGAGTACAC -3'
(R):5'- GCCTCTATTTTCAACACTGGGG -3'
Sequencing Primer
(F):5'- GATGCCGAGTACACTTATGATCAGC -3'
(R):5'- TTCAACACTGGGGGAGCATGTC -3'
|
Posted On |
2018-06-06 |