Incidental Mutation 'IGL02425:Nr1d2'
| ID |
292874 |
| 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 # |
IGL02425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
4230569-4265642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18222011 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 87
(T87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090543]
[ENSMUST00000225491]
|
| AlphaFold |
Q60674 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090543
AA Change: T87A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
AA Change: T87A
| 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 |
probably benign
Transcript: ENSMUST00000225491
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8430423G03Rik |
A |
G |
5: 148,887,472 (GRCm39) |
|
probably benign |
Het |
| Adam4 |
C |
T |
12: 81,468,102 (GRCm39) |
R173H |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,306,034 (GRCm39) |
E948G |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,323,749 (GRCm39) |
Y184C |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,854,316 (GRCm39) |
V761A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,749,645 (GRCm39) |
F480L |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,119,380 (GRCm39) |
T714A |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,746,390 (GRCm39) |
I263T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,480 (GRCm39) |
V219I |
probably benign |
Het |
| Dsn1 |
A |
G |
2: 156,838,667 (GRCm39) |
V316A |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,950,813 (GRCm39) |
F80L |
probably benign |
Het |
| Fam221b |
A |
G |
4: 43,660,642 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
G |
A |
10: 93,910,064 (GRCm39) |
G790R |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,680,302 (GRCm39) |
|
probably benign |
Het |
| Gldn |
T |
A |
9: 54,246,005 (GRCm39) |
Y519N |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,530,381 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,819 (GRCm39) |
V380A |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,600 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,480 (GRCm39) |
V2564A |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,281,774 (GRCm39) |
T337A |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,756 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
A |
G |
10: 24,155,334 (GRCm39) |
N245S |
probably benign |
Het |
| Napepld |
T |
C |
5: 21,888,440 (GRCm39) |
E3G |
probably benign |
Het |
| Nudt4 |
T |
A |
10: 95,385,245 (GRCm39) |
T149S |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,597,859 (GRCm39) |
D219E |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,760,560 (GRCm39) |
I1508V |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,038,420 (GRCm39) |
S1635N |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,919 (GRCm39) |
V121A |
probably benign |
Het |
| Snapc4 |
T |
C |
2: 26,258,212 (GRCm39) |
D736G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,811 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
C |
3: 107,521,962 (GRCm39) |
I739V |
probably benign |
Het |
| Tmem161a |
T |
C |
8: 70,629,577 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,547,970 (GRCm39) |
T39A |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,890,175 (GRCm39) |
M926T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,587,624 (GRCm39) |
K19744* |
probably null |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,777 (GRCm39) |
E784G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,940,415 (GRCm39) |
F774S |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,554,909 (GRCm39) |
Y101* |
probably null |
Het |
|
| Other mutations in Nr1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Nr1d2
|
APN |
14 |
18,215,502 (GRCm38) |
intron |
probably benign |
|
|
IGL00897:Nr1d2
|
APN |
14 |
18,214,993 (GRCm38) |
missense |
probably benign |
0.03 |
|
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 |
2015-04-16 |
Incidental Mutation