Incidental Mutation 'R5939:Nr3c1'
| ID |
462454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr3c1
|
| Ensembl Gene |
ENSMUSG00000024431 |
| Gene Name |
nuclear receptor subfamily 3, group C, member 1 |
| Synonyms |
glucocorticoid receptor, Grl1, Grl-1, GR |
| MMRRC Submission |
043243-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
39543598-39652474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39553706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 664
(I664T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025300]
[ENSMUST00000097592]
[ENSMUST00000115567]
[ENSMUST00000115571]
[ENSMUST00000152853]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025300
AA Change: I664T
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025300
Gene: ENSMUSG00000024431
AA Change: I664T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCR
|
27 |
418 |
1.4e-166 |
PFAM |
|
ZnF_C4
|
434 |
505 |
7.6e-36 |
SMART |
|
HOLI
|
580 |
744 |
8.8e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097592
AA Change: I665T
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095199
Gene: ENSMUSG00000024431
AA Change: I665T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCR
|
27 |
86 |
9.2e-16 |
PFAM |
|
Pfam:GCR
|
75 |
418 |
1.4e-161 |
PFAM |
|
ZnF_C4
|
434 |
506 |
8.6e-35 |
SMART |
|
HOLI
|
581 |
745 |
8.8e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115567
AA Change: I664T
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111229
Gene: ENSMUSG00000024431
AA Change: I664T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCR
|
27 |
418 |
1.4e-166 |
PFAM |
|
ZnF_C4
|
434 |
505 |
7.6e-36 |
SMART |
|
HOLI
|
580 |
744 |
8.8e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115571
AA Change: I664T
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111233
Gene: ENSMUSG00000024431
AA Change: I664T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCR
|
27 |
418 |
1.4e-166 |
PFAM |
|
ZnF_C4
|
434 |
505 |
7.6e-36 |
SMART |
|
HOLI
|
580 |
744 |
8.8e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152853
|
| SMART Domains |
Protein: ENSMUSP00000120082
Gene: ENSMUSG00000024431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCR
|
27 |
418 |
5.7e-167 |
PFAM |
|
ZnF_C4
|
434 |
488 |
5.65e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants die at birth of respiratory failure with underdeveloped lungs, enlarged adrenals, elevated serum corticosterone and ACTH, and failed adrenaline synthesis. Mice with a point mutation have impaired gluconeogenesis and erythropoiesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(3) Targeted, other(8) Gene trapped(1) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
| Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
| Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
| Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
| Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
| Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
| Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
| Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
| Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
| Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
| Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
| Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
| Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
| Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
Het |
|
| Other mutations in Nr3c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Nr3c1
|
APN |
18 |
39,561,661 (GRCm39) |
splice site |
probably null |
|
|
IGL00798:Nr3c1
|
APN |
18 |
39,619,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Nr3c1
|
APN |
18 |
39,619,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02088:Nr3c1
|
APN |
18 |
39,557,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Nr3c1
|
APN |
18 |
39,554,610 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03145:Nr3c1
|
APN |
18 |
39,619,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03236:Nr3c1
|
APN |
18 |
39,619,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Nr3c1
|
UTSW |
18 |
39,619,092 (GRCm39) |
missense |
probably benign |
|
|
R1296:Nr3c1
|
UTSW |
18 |
39,620,051 (GRCm39) |
nonsense |
probably null |
|
|
R2251:Nr3c1
|
UTSW |
18 |
39,619,804 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2253:Nr3c1
|
UTSW |
18 |
39,619,804 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2922:Nr3c1
|
UTSW |
18 |
39,620,156 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4667:Nr3c1
|
UTSW |
18 |
39,561,780 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4971:Nr3c1
|
UTSW |
18 |
39,619,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Nr3c1
|
UTSW |
18 |
39,619,654 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5732:Nr3c1
|
UTSW |
18 |
39,548,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Nr3c1
|
UTSW |
18 |
39,554,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Nr3c1
|
UTSW |
18 |
39,620,011 (GRCm39) |
small deletion |
probably benign |
|
|
R6666:Nr3c1
|
UTSW |
18 |
39,620,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Nr3c1
|
UTSW |
18 |
39,619,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7286:Nr3c1
|
UTSW |
18 |
39,619,513 (GRCm39) |
small insertion |
probably benign |
|
|
R7289:Nr3c1
|
UTSW |
18 |
39,555,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7289:Nr3c1
|
UTSW |
18 |
39,547,654 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7334:Nr3c1
|
UTSW |
18 |
39,620,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8550:Nr3c1
|
UTSW |
18 |
39,619,842 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8767:Nr3c1
|
UTSW |
18 |
39,619,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Nr3c1
|
UTSW |
18 |
39,620,195 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0062:Nr3c1
|
UTSW |
18 |
39,561,845 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCTCATCACCAGAGATC -3'
(R):5'- TAGCAGTAGGTATGTTTGCAGCC -3'
Sequencing Primer
(F):5'- AGAGATCCCTGGGCAGATC -3'
(R):5'- CAGTAGGTATGTTTGCAGCCATGAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation