Incidental Mutation 'IGL01418:Nr2c1'
| ID |
80292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr2c1
|
| Ensembl Gene |
ENSMUSG00000005897 |
| Gene Name |
nuclear receptor subfamily 2, group C, member 1 |
| Synonyms |
TR2, 4831444H07Rik, Eenr, Tr2-11 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
93983885-94033073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94026552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 476
(M476L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092213]
[ENSMUST00000099343]
[ENSMUST00000105290]
|
| AlphaFold |
Q505F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092213
AA Change: M476L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: M476L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
98 |
169 |
3.18e-38 |
SMART |
|
HOLI
|
382 |
548 |
4.94e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099343
AA Change: M476L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: M476L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
98 |
169 |
3.18e-38 |
SMART |
|
HOLI
|
382 |
548 |
4.94e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105290
AA Change: M476L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: M476L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
98 |
169 |
3.18e-38 |
SMART |
|
HOLI
|
382 |
548 |
4.94e-35 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in testis development or in spermatogenesis; no gross defects were detected in the central nervous system and normal motor neuron cell numbers were noted. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,762,655 (GRCm39) |
H190L |
probably benign |
Het |
| Apoo-ps |
T |
A |
13: 107,551,032 (GRCm39) |
|
noncoding transcript |
Het |
| Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,479,524 (GRCm39) |
A214T |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,960,124 (GRCm39) |
E153G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,288,852 (GRCm39) |
V3374I |
probably benign |
Het |
| Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,217 (GRCm39) |
W1126* |
probably null |
Het |
| E130311K13Rik |
A |
C |
3: 63,827,683 (GRCm39) |
L141R |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,440 (GRCm39) |
K451R |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,768,241 (GRCm39) |
C585S |
possibly damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,316,585 (GRCm39) |
|
probably null |
Het |
| Lactb |
T |
C |
9: 66,875,045 (GRCm39) |
D349G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,355,630 (GRCm39) |
V405I |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,568,338 (GRCm39) |
I1461K |
unknown |
Het |
| Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
| Nek5 |
A |
C |
8: 22,585,285 (GRCm39) |
I364S |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,255,810 (GRCm39) |
V105A |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,984 (GRCm39) |
E173G |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,809 (GRCm39) |
V158A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
| Phf10 |
C |
A |
17: 15,165,396 (GRCm39) |
V487L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
| Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
| Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
| Slc5a8 |
G |
T |
10: 88,740,895 (GRCm39) |
C270F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,895,462 (GRCm39) |
D448G |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
| Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,493,237 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nr2c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02739:Nr2c1
|
APN |
10 |
93,992,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
chillax
|
UTSW |
10 |
93,999,648 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0077:Nr2c1
|
UTSW |
10 |
94,024,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0349:Nr2c1
|
UTSW |
10 |
94,031,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Nr2c1
|
UTSW |
10 |
94,007,020 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0418:Nr2c1
|
UTSW |
10 |
94,017,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0662:Nr2c1
|
UTSW |
10 |
94,026,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Nr2c1
|
UTSW |
10 |
94,024,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Nr2c1
|
UTSW |
10 |
93,999,648 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4812:Nr2c1
|
UTSW |
10 |
94,024,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5549:Nr2c1
|
UTSW |
10 |
94,003,558 (GRCm39) |
missense |
probably benign |
|
|
R5928:Nr2c1
|
UTSW |
10 |
94,024,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6219:Nr2c1
|
UTSW |
10 |
93,999,648 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6430:Nr2c1
|
UTSW |
10 |
94,031,203 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6431:Nr2c1
|
UTSW |
10 |
94,024,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6745:Nr2c1
|
UTSW |
10 |
94,026,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Nr2c1
|
UTSW |
10 |
94,007,029 (GRCm39) |
nonsense |
probably null |
|
|
R7707:Nr2c1
|
UTSW |
10 |
94,024,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7848:Nr2c1
|
UTSW |
10 |
94,026,508 (GRCm39) |
missense |
probably benign |
|
|
R8257:Nr2c1
|
UTSW |
10 |
94,028,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8405:Nr2c1
|
UTSW |
10 |
94,031,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8757:Nr2c1
|
UTSW |
10 |
94,031,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Nr2c1
|
UTSW |
10 |
94,017,465 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9546:Nr2c1
|
UTSW |
10 |
94,026,528 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9630:Nr2c1
|
UTSW |
10 |
93,998,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9667:Nr2c1
|
UTSW |
10 |
94,017,479 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation