Incidental Mutation 'IGL02739:Nr2c1'
ID |
305800 |
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 # |
IGL02739
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
93983885-94033073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93992834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 16
(M16K)
|
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: M16K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089858 Gene: ENSMUSG00000005897 AA Change: M16K
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: M16K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096945 Gene: ENSMUSG00000005897 AA Change: M16K
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: M16K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000100927 Gene: ENSMUSG00000005897 AA Change: M16K
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 |
Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,756 (GRCm39) |
Y106H |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
Epcam |
A |
T |
17: 87,947,922 (GRCm39) |
T131S |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
Ppp1r42 |
T |
A |
1: 10,039,078 (GRCm39) |
K347N |
probably benign |
Het |
Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,612,129 (GRCm39) |
K11R |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,885 (GRCm39) |
Y640* |
probably null |
Het |
Zkscan17 |
T |
G |
11: 59,394,352 (GRCm39) |
E83A |
probably damaging |
Het |
|
Other mutations in Nr2c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01418:Nr2c1
|
APN |
10 |
94,026,552 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2015-04-16 |