Incidental Mutation 'R0964:Nr3c2'
| ID |
81481 |
| 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 |
039093-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
| Type of Mutation |
splice site (255 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 77635297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122959
(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: I133V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: I133V
| 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 benign
Transcript: ENSMUST00000109911
AA Change: I133V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: I133V
| 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: I133V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: I133V
| 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: I133V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: I133V
| 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 null
Transcript: ENSMUST00000128862
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143284
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148106
AA Change: I133V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: I133V
| 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 |
|
| Meta Mutation Damage Score |
0.1058 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,367,813 (GRCm39) |
M1604L |
possibly damaging |
Het |
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,041 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
C |
T |
1: 87,015,446 (GRCm39) |
V372I |
possibly damaging |
Het |
| Apol8 |
C |
T |
15: 77,633,811 (GRCm39) |
S255N |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,179,413 (GRCm39) |
F973I |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,230,259 (GRCm39) |
*150Q |
probably null |
Het |
| Bltp3a |
A |
T |
17: 28,106,152 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,597,749 (GRCm39) |
|
probably benign |
Het |
| Ccn1 |
C |
A |
3: 145,353,503 (GRCm39) |
C353F |
probably damaging |
Het |
| Ccser2 |
C |
T |
14: 36,630,965 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,741,832 (GRCm39) |
E1607G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,621,337 (GRCm39) |
I579T |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,626,278 (GRCm39) |
|
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,664,144 (GRCm39) |
I205V |
probably benign |
Het |
| Ddx24 |
C |
T |
12: 103,390,166 (GRCm39) |
R275H |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,618,699 (GRCm39) |
A579T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,551,962 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Gckr |
T |
C |
5: 31,484,259 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,436 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,281,523 (GRCm39) |
T1913A |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,158,003 (GRCm39) |
|
probably benign |
Het |
| Meioc |
G |
A |
11: 102,570,857 (GRCm39) |
V863I |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,096,751 (GRCm39) |
I341V |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,235,828 (GRCm39) |
T664A |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,257,193 (GRCm39) |
D1269A |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,378,243 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,238,186 (GRCm39) |
S249P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,604 (GRCm39) |
M293I |
probably benign |
Het |
| Or8k16 |
A |
G |
2: 85,520,709 (GRCm39) |
N312S |
probably benign |
Het |
| Or9a4 |
T |
C |
6: 40,549,139 (GRCm39) |
V273A |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,949,296 (GRCm39) |
T675I |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,285,908 (GRCm39) |
E176* |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,819,567 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
C |
A |
7: 30,205,706 (GRCm39) |
R218S |
probably damaging |
Het |
| Rps15a |
T |
C |
7: 117,714,060 (GRCm39) |
D54G |
probably benign |
Het |
| Sbno2 |
G |
T |
10: 79,920,093 (GRCm39) |
T46N |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,697,243 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,926,907 (GRCm39) |
F567L |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,116,780 (GRCm39) |
|
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,058,653 (GRCm39) |
E284V |
possibly damaging |
Het |
| Srsf3 |
C |
A |
17: 29,255,412 (GRCm39) |
L66I |
probably damaging |
Het |
| Srsf3 |
T |
A |
17: 29,255,413 (GRCm39) |
L66Q |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,652 (GRCm39) |
T8363A |
possibly damaging |
Het |
| Trmt1 |
T |
A |
8: 85,423,481 (GRCm39) |
L298Q |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,267,260 (GRCm39) |
I923V |
possibly damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,487,859 (GRCm39) |
H847Y |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,401 (GRCm39) |
T8A |
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb41 |
T |
G |
1: 139,366,769 (GRCm39) |
F583V |
probably damaging |
Het |
| Zfp938 |
T |
A |
10: 82,061,253 (GRCm39) |
I456F |
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 |
|
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 |
|
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'- ACAATAGTCGGTCTGGGATTTTGCC -3'
(R):5'- TGCACTGGGAAACTGCCAAAGC -3'
Sequencing Primer
(F):5'- GCCATCAGATATTAAAACTGAGCTG -3'
(R):5'- ACATGGAGTTGATGCCCG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation