Incidental Mutation 'R0422:Nr3c2'
ID |
37125 |
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 |
038624-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0422 (G1)
|
Quality Score |
163 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
77626070-77971641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77912596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 736
(M736V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034031]
[ENSMUST00000109911]
[ENSMUST00000109912]
[ENSMUST00000109913]
[ENSMUST00000148106]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034031
AA Change: M740V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034031 Gene: ENSMUSG00000031618 AA Change: M740V
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
|
SMART Domains |
Protein: ENSMUSP00000105537 Gene: ENSMUSG00000031618
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: M736V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105538 Gene: ENSMUSG00000031618 AA Change: M736V
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: M736V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105539 Gene: ENSMUSG00000031618 AA Change: M736V
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 |
noncoding transcript
Transcript: ENSMUST00000126697
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148106
|
SMART Domains |
Protein: ENSMUSP00000118222 Gene: ENSMUSG00000031618
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
A |
7: 119,372,963 (GRCm39) |
Y155* |
probably null |
Het |
Adamts16 |
A |
G |
13: 70,887,074 (GRCm39) |
C937R |
probably damaging |
Het |
Akna |
T |
C |
4: 63,310,391 (GRCm39) |
D451G |
probably damaging |
Het |
Alox12 |
A |
T |
11: 70,145,384 (GRCm39) |
V63E |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,598,968 (GRCm39) |
I514T |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,354,478 (GRCm39) |
M286T |
probably damaging |
Het |
Cdkl2 |
T |
C |
5: 92,168,171 (GRCm39) |
D341G |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,526,967 (GRCm39) |
D813G |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,905,099 (GRCm39) |
V894A |
probably damaging |
Het |
Coro2b |
T |
A |
9: 62,335,259 (GRCm39) |
Y304F |
probably benign |
Het |
Dclre1a |
T |
A |
19: 56,532,567 (GRCm39) |
K676* |
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,307,224 (GRCm39) |
|
probably null |
Het |
Dpep3 |
A |
G |
8: 106,702,750 (GRCm39) |
|
probably null |
Het |
Efna5 |
C |
T |
17: 62,914,414 (GRCm39) |
A177T |
probably benign |
Het |
Fabp1 |
G |
A |
6: 71,180,077 (GRCm39) |
V83I |
possibly damaging |
Het |
H2-DMa |
G |
T |
17: 34,356,921 (GRCm39) |
G140C |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,481,145 (GRCm39) |
|
probably null |
Het |
Hyou1 |
T |
A |
9: 44,300,539 (GRCm39) |
N869K |
probably damaging |
Het |
Ing1 |
G |
A |
8: 11,611,933 (GRCm39) |
V124I |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,134,643 (GRCm39) |
I380F |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,019,888 (GRCm39) |
I378V |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,520,662 (GRCm39) |
V1816A |
probably benign |
Het |
Matn2 |
G |
A |
15: 34,435,917 (GRCm39) |
|
probably null |
Het |
Naip2 |
C |
T |
13: 100,297,621 (GRCm39) |
S805N |
probably benign |
Het |
Napsa |
A |
C |
7: 44,234,530 (GRCm39) |
Q254P |
probably damaging |
Het |
Nat10 |
G |
T |
2: 103,557,074 (GRCm39) |
S860* |
probably null |
Het |
Nipbl |
T |
C |
15: 8,381,112 (GRCm39) |
D560G |
probably benign |
Het |
Or4k44 |
A |
T |
2: 111,368,328 (GRCm39) |
F102Y |
probably damaging |
Het |
Or7e174 |
A |
T |
9: 20,012,744 (GRCm39) |
R230* |
probably null |
Het |
Or8u8 |
A |
T |
2: 86,011,566 (GRCm39) |
D296E |
probably benign |
Het |
Palm3 |
A |
G |
8: 84,755,492 (GRCm39) |
S335G |
possibly damaging |
Het |
Panx1 |
G |
T |
9: 14,919,112 (GRCm39) |
S249* |
probably null |
Het |
Parvb |
A |
G |
15: 84,179,812 (GRCm39) |
T231A |
probably benign |
Het |
Pcdhb11 |
G |
T |
18: 37,554,923 (GRCm39) |
L84F |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,925,096 (GRCm39) |
*447Q |
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,440,783 (GRCm39) |
S125P |
probably benign |
Het |
Prss1 |
T |
A |
6: 41,440,246 (GRCm39) |
D194E |
probably damaging |
Het |
Rnf216 |
A |
T |
5: 143,001,409 (GRCm39) |
C772* |
probably null |
Het |
Rnf216 |
A |
T |
5: 143,076,125 (GRCm39) |
F253Y |
probably benign |
Het |
Rsf1 |
A |
T |
7: 97,330,024 (GRCm39) |
E1183D |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,994,132 (GRCm39) |
T958A |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,558,038 (GRCm39) |
M480T |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,467,886 (GRCm39) |
V473E |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,515,848 (GRCm39) |
T583A |
possibly damaging |
Het |
Slc7a15 |
T |
C |
12: 8,584,400 (GRCm39) |
T117A |
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Slitrk6 |
T |
A |
14: 110,989,725 (GRCm39) |
|
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,972,199 (GRCm39) |
S511P |
possibly damaging |
Het |
Spata7 |
A |
G |
12: 98,624,524 (GRCm39) |
Y110C |
probably damaging |
Het |
Supt16 |
T |
A |
14: 52,421,453 (GRCm39) |
I31F |
probably benign |
Het |
Taar7a |
T |
C |
10: 23,869,172 (GRCm39) |
T70A |
probably benign |
Het |
Top2a |
A |
G |
11: 98,900,679 (GRCm39) |
F594L |
probably damaging |
Het |
Unc13d |
C |
T |
11: 115,960,846 (GRCm39) |
|
probably null |
Het |
Unc80 |
T |
G |
1: 66,522,497 (GRCm39) |
V233G |
probably damaging |
Het |
Wdr91 |
A |
T |
6: 34,857,781 (GRCm39) |
D735E |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,756,917 (GRCm39) |
T1141A |
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 |
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 |
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'- TCAGTTGTCCCCATGCAATGTGTTC -3'
(R):5'- TGGAAGTACCTTGGCCCACTTCAC -3'
Sequencing Primer
(F):5'- TGCATTTCACAGCTCGAAAGTC -3'
(R):5'- ACGACTTGGATCATCTGCTTG -3'
|
Posted On |
2013-05-09 |