Incidental Mutation 'R8268:Nr1d2'
| ID |
639555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1d2
|
| Ensembl Gene |
ENSMUSG00000021775 |
| Gene Name |
nuclear receptor subfamily 1, group D, member 2 |
| Synonyms |
Rev-erb beta, RVR |
| MMRRC Submission |
067692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
4230569-4265642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18216659 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 170
(S170P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090543]
|
| AlphaFold |
Q60674 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090543
AA Change: S170P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
AA Change: S170P
| 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 |
|
| Meta Mutation Damage Score |
0.6842 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (37/38) |
| 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 |
|---|
| Abhd8 |
A |
T |
8: 71,909,961 (GRCm39) |
C396S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Ciapin1 |
A |
G |
8: 95,558,511 (GRCm39) |
V67A |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,802,057 (GRCm39) |
R2018G |
unknown |
Het |
| Dnah11 |
A |
T |
12: 117,991,243 (GRCm39) |
Y2374* |
probably null |
Het |
| Dnah7b |
G |
T |
1: 46,395,736 (GRCm39) |
M3879I |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gm12258 |
A |
C |
11: 58,745,084 (GRCm39) |
|
probably null |
Het |
| Hpse |
A |
G |
5: 100,846,907 (GRCm39) |
L174S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,714,448 (GRCm39) |
K248R |
probably damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,450,954 (GRCm39) |
R744S |
probably damaging |
Het |
| Klhl32 |
G |
A |
4: 24,800,843 (GRCm39) |
|
probably benign |
Het |
| Mkrn3 |
A |
G |
7: 62,068,270 (GRCm39) |
L507P |
probably damaging |
Het |
| Myom2 |
T |
G |
8: 15,179,157 (GRCm39) |
F1330V |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,407 (GRCm39) |
D388G |
probably damaging |
Het |
| Or12e9 |
C |
A |
2: 87,202,332 (GRCm39) |
A152E |
probably damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,430 (GRCm39) |
D204G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Or7a36 |
T |
A |
10: 78,819,831 (GRCm39) |
V69E |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,486,509 (GRCm39) |
S721T |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,587,192 (GRCm39) |
L323P |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,263 (GRCm39) |
I742L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,254,750 (GRCm39) |
S302G |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,126,651 (GRCm39) |
|
probably null |
Het |
| Sh3bgr |
A |
G |
16: 96,025,674 (GRCm39) |
T187A |
unknown |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,033 (GRCm39) |
R923H |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,491 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
T |
A |
4: 133,097,934 (GRCm39) |
V27E |
probably benign |
Het |
| Stard3nl |
A |
G |
13: 19,560,629 (GRCm39) |
S49P |
probably damaging |
Het |
| Stxbp2 |
G |
A |
8: 3,682,234 (GRCm39) |
V17I |
|
Het |
| Themis3 |
C |
T |
17: 66,862,786 (GRCm39) |
E391K |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,404,996 (GRCm39) |
|
probably benign |
Het |
| Tmem167 |
T |
C |
13: 90,252,554 (GRCm39) |
F70S |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,851,225 (GRCm39) |
Q1729K |
possibly damaging |
Het |
| Tsc2 |
A |
C |
17: 24,818,984 (GRCm39) |
L1285W |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,142,791 (GRCm39) |
I91F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,089,476 (GRCm39) |
A573T |
probably damaging |
Het |
| Zc2hc1c |
C |
T |
12: 85,336,595 (GRCm39) |
S84F |
probably benign |
Het |
| Zfp143 |
A |
G |
7: 109,690,991 (GRCm39) |
D515G |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCTCTGAGATAATAGTACTC -3'
(R):5'- AGGTCTAGCTCCACATATACTAGC -3'
Sequencing Primer
(F):5'- GCCTCTGAGATAATAGTACTCATTCC -3'
(R):5'- GCTCCACATATACTAGCTTGATATGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation