Incidental Mutation 'IGL03039:Nr1d2'
| ID |
408819 |
| 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 # |
IGL03039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
4230569-4265642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18215184 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 276
(M276K)
|
| 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: M276K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
AA Change: M276K
| 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
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,454,502 (GRCm39) |
C440R |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,566 (GRCm39) |
D308G |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,063,999 (GRCm39) |
Q408K |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,798,340 (GRCm39) |
L114P |
probably damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,839 (GRCm39) |
C66Y |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,445,667 (GRCm39) |
Q743K |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,468,055 (GRCm39) |
E241G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,068,867 (GRCm39) |
K148E |
probably damaging |
Het |
| Gm17079 |
T |
A |
14: 51,930,518 (GRCm39) |
E109V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,769 (GRCm39) |
|
probably benign |
Het |
| Igkv1-88 |
T |
C |
6: 68,839,276 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,042 (GRCm39) |
R21G |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,467 (GRCm39) |
D22G |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,435 (GRCm39) |
D769G |
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,019,734 (GRCm39) |
W817L |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,988,637 (GRCm39) |
V983A |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,574,837 (GRCm39) |
V46D |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,140,461 (GRCm39) |
Y712H |
probably damaging |
Het |
| Phkg2 |
T |
A |
7: 127,178,866 (GRCm39) |
Y27* |
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,157,140 (GRCm39) |
L726F |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,129,229 (GRCm39) |
|
probably null |
Het |
| Skint4 |
T |
C |
4: 111,981,847 (GRCm39) |
V272A |
probably benign |
Het |
| Slc41a2 |
A |
G |
10: 83,119,722 (GRCm39) |
Y347H |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
probably benign |
Het |
| Tgfbr3 |
A |
C |
5: 107,325,665 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,088 (GRCm39) |
I4N |
possibly damaging |
Het |
| Trh |
C |
A |
6: 92,220,709 (GRCm39) |
R51L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,013 (GRCm39) |
V312E |
probably damaging |
Het |
| Wdfy2 |
T |
C |
14: 63,186,169 (GRCm39) |
V268A |
probably benign |
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 |
|
IGL02425:Nr1d2
|
APN |
14 |
18,222,011 (GRCm38) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation