Incidental Mutation 'IGL00426:Nr1d2'
| ID |
4230 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr1d2
|
| Ensembl Gene |
ENSMUSG00000021775 |
| Gene Name |
nuclear receptor subfamily 1, group D, member 2 |
| Synonyms |
Rev-erb beta, RVR |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
4230569-4265642 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 18215502 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090543]
[ENSMUST00000225491]
|
| AlphaFold |
Q60674 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090543
|
| SMART Domains |
Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
47 |
N/A |
INTRINSIC |
|
ZnF_C4
|
100 |
172 |
4.2e-38 |
SMART |
|
Blast:HOLI
|
185 |
241 |
2e-13 |
BLAST |
|
HOLI
|
404 |
562 |
3.71e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225308
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225491
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no gross abnormalities. Mice homozygous for a different knock-out allele display an increased anxiety-related response. A subset of mice homozygous for a third knock-out allele show neonatal lethality, atrioventricular septal defects (AVSDs) and related cardiovascular malformations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,278 (GRCm39) |
E313K |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,659,542 (GRCm39) |
L332I |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,571,244 (GRCm39) |
V130A |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,124,785 (GRCm39) |
A499V |
probably benign |
Het |
| Ceacam18 |
C |
T |
7: 43,288,780 (GRCm39) |
T177I |
probably benign |
Het |
| Cspp1 |
G |
A |
1: 10,182,776 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
A |
T |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,115,750 (GRCm39) |
|
probably null |
Het |
| Dip2c |
T |
C |
13: 9,656,551 (GRCm39) |
F821L |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,006 (GRCm39) |
R85* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,034,910 (GRCm39) |
D106G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,214 (GRCm39) |
V2259A |
possibly damaging |
Het |
| Mmp16 |
C |
T |
4: 18,011,784 (GRCm39) |
P233L |
probably benign |
Het |
| Mrpl27 |
A |
G |
11: 94,550,523 (GRCm39) |
N110S |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,119,502 (GRCm39) |
M131T |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,462,953 (GRCm39) |
T198A |
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,058,653 (GRCm39) |
Q549R |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,186,278 (GRCm39) |
*1347Q |
probably null |
Het |
| Pkd2l1 |
C |
T |
19: 44,144,044 (GRCm39) |
R343H |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,308,012 (GRCm39) |
L215H |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,230 (GRCm39) |
L137P |
probably damaging |
Het |
| Rasa2 |
C |
T |
9: 96,426,913 (GRCm39) |
D752N |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,896,041 (GRCm39) |
K1726E |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,175,142 (GRCm39) |
|
probably benign |
Het |
| Tmem183a |
A |
G |
1: 134,277,882 (GRCm39) |
L294P |
probably damaging |
Het |
| Trav19 |
T |
C |
14: 54,083,141 (GRCm39) |
L72P |
probably damaging |
Het |
| Vapa |
T |
C |
17: 65,900,476 (GRCm39) |
T99A |
possibly damaging |
Het |
|
| Other mutations in Nr1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Nr1d2
|
APN |
14 |
18,214,993 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02425:Nr1d2
|
APN |
14 |
18,222,011 (GRCm38) |
missense |
probably benign |
|
|
IGL03039:Nr1d2
|
APN |
14 |
18,215,184 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03169:Nr1d2
|
APN |
14 |
18,216,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03388:Nr1d2
|
APN |
14 |
18,215,403 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0173:Nr1d2
|
UTSW |
14 |
18,215,502 (GRCm38) |
intron |
probably benign |
|
|
R0242:Nr1d2
|
UTSW |
14 |
18,211,933 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0242:Nr1d2
|
UTSW |
14 |
18,211,933 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0674:Nr1d2
|
UTSW |
14 |
18,215,086 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1240:Nr1d2
|
UTSW |
14 |
18,211,891 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3115:Nr1d2
|
UTSW |
14 |
18,215,504 (GRCm38) |
splice site |
probably null |
|
|
R3738:Nr1d2
|
UTSW |
14 |
18,211,804 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4165:Nr1d2
|
UTSW |
14 |
18,215,446 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5319:Nr1d2
|
UTSW |
14 |
18,215,197 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5353:Nr1d2
|
UTSW |
14 |
18,222,125 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5384:Nr1d2
|
UTSW |
14 |
18,211,922 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5486:Nr1d2
|
UTSW |
14 |
18,206,860 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5827:Nr1d2
|
UTSW |
14 |
18,222,248 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7873:Nr1d2
|
UTSW |
14 |
18,216,656 (GRCm38) |
nonsense |
probably null |
|
|
R8268:Nr1d2
|
UTSW |
14 |
18,216,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8411:Nr1d2
|
UTSW |
14 |
18,215,031 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8429:Nr1d2
|
UTSW |
14 |
18,215,409 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8696:Nr1d2
|
UTSW |
14 |
18,216,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8912:Nr1d2
|
UTSW |
14 |
18,220,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Nr1d2
|
UTSW |
14 |
18,211,823 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2012-04-20 |
Incidental Mutation