Incidental Mutation 'R3919:Nr2e3'
ID |
306901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nr2e3
|
Ensembl Gene |
ENSMUSG00000032292 |
Gene Name |
nuclear receptor subfamily 2, group E, member 3 |
Synonyms |
RNR, Pnr, photoreceptor-specific nuclear receptor |
MMRRC Submission |
040817-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
59850054-59867942 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59850723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 379
(T379S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034831]
|
AlphaFold |
Q9QXZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034831
AA Change: T379S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034831 Gene: ENSMUSG00000032292 AA Change: T379S
Domain | Start | End | E-Value | Type |
ZnF_C4
|
37 |
109 |
1.26e-32 |
SMART |
HOLI
|
209 |
367 |
3.92e-38 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130831
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215963
|
Meta Mutation Damage Score |
0.5186 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (49/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028J19Rik |
G |
T |
7: 43,879,852 (GRCm39) |
|
probably benign |
Het |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Abcb5 |
A |
G |
12: 118,854,353 (GRCm39) |
M854T |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,011,764 (GRCm39) |
Y822* |
probably null |
Het |
Apoe |
T |
C |
7: 19,430,472 (GRCm39) |
T257A |
probably benign |
Het |
Atm |
C |
A |
9: 53,403,578 (GRCm39) |
A1365S |
probably benign |
Het |
Bmp2k |
T |
C |
5: 97,222,599 (GRCm39) |
S674P |
unknown |
Het |
Cd177 |
T |
C |
7: 24,443,858 (GRCm39) |
S747G |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,298,460 (GRCm39) |
F91L |
possibly damaging |
Het |
Chil4 |
A |
T |
3: 106,109,848 (GRCm39) |
N388K |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,550,303 (GRCm39) |
L3328F |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Ercc5 |
C |
A |
1: 44,201,091 (GRCm39) |
T217K |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,356,905 (GRCm39) |
|
probably benign |
Het |
Ifih1 |
C |
A |
2: 62,453,845 (GRCm39) |
|
probably benign |
Het |
Ints12 |
A |
T |
3: 132,806,444 (GRCm39) |
T124S |
probably benign |
Het |
Kdm5d |
T |
C |
Y: 939,914 (GRCm39) |
L1022P |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,994,501 (GRCm39) |
N1803Y |
probably damaging |
Het |
Lpcat2 |
C |
T |
8: 93,640,902 (GRCm39) |
T449I |
probably damaging |
Het |
Ly6c2 |
A |
T |
15: 74,980,613 (GRCm39) |
|
probably null |
Het |
Mast3 |
T |
C |
8: 71,232,066 (GRCm39) |
K1304E |
probably benign |
Het |
Mdm4 |
T |
C |
1: 132,922,306 (GRCm39) |
K279E |
possibly damaging |
Het |
Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
Mrgprb1 |
T |
C |
7: 48,097,829 (GRCm39) |
K28E |
probably benign |
Het |
Myrip |
G |
A |
9: 120,261,695 (GRCm39) |
G436D |
probably damaging |
Het |
Or8k27 |
A |
G |
2: 86,275,762 (GRCm39) |
V188A |
probably benign |
Het |
Plscr3 |
T |
A |
11: 69,738,236 (GRCm39) |
|
probably benign |
Het |
Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
Ppt2 |
T |
C |
17: 34,841,897 (GRCm39) |
N213S |
probably damaging |
Het |
Prelid2 |
T |
A |
18: 42,070,740 (GRCm39) |
D31V |
possibly damaging |
Het |
Psmb9 |
C |
T |
17: 34,402,588 (GRCm39) |
|
probably null |
Het |
Rec8 |
A |
G |
14: 55,858,716 (GRCm39) |
T164A |
probably benign |
Het |
Rnf103 |
G |
A |
6: 71,487,331 (GRCm39) |
R654Q |
probably benign |
Het |
Setdb2 |
T |
A |
14: 59,656,616 (GRCm39) |
I250F |
probably damaging |
Het |
Slurp1 |
A |
T |
15: 74,598,659 (GRCm39) |
*111K |
probably null |
Het |
Sphkap |
T |
G |
1: 83,254,179 (GRCm39) |
E903A |
probably damaging |
Het |
Sst |
T |
C |
16: 23,708,591 (GRCm39) |
D80G |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,135,981 (GRCm39) |
T430I |
possibly damaging |
Het |
Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
Trim6 |
A |
T |
7: 103,882,057 (GRCm39) |
Y436F |
probably damaging |
Het |
Ttc28 |
C |
A |
5: 111,433,245 (GRCm39) |
A2093E |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,434,854 (GRCm39) |
N462D |
possibly damaging |
Het |
Whrn |
G |
T |
4: 63,413,421 (GRCm39) |
S17* |
probably null |
Het |
Zfhx4 |
T |
A |
3: 5,464,175 (GRCm39) |
S1469R |
possibly damaging |
Het |
Zfp108 |
T |
A |
7: 23,960,257 (GRCm39) |
C283S |
probably damaging |
Het |
|
Other mutations in Nr2e3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02045:Nr2e3
|
APN |
9 |
59,856,291 (GRCm39) |
missense |
probably benign |
0.14 |
R1448:Nr2e3
|
UTSW |
9 |
59,850,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Nr2e3
|
UTSW |
9 |
59,856,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R1657:Nr2e3
|
UTSW |
9 |
59,856,050 (GRCm39) |
missense |
probably benign |
0.08 |
R1819:Nr2e3
|
UTSW |
9 |
59,850,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Nr2e3
|
UTSW |
9 |
59,857,079 (GRCm39) |
missense |
probably benign |
0.23 |
R3925:Nr2e3
|
UTSW |
9 |
59,855,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Nr2e3
|
UTSW |
9 |
59,856,355 (GRCm39) |
intron |
probably benign |
|
R5239:Nr2e3
|
UTSW |
9 |
59,857,059 (GRCm39) |
splice site |
probably benign |
|
R5310:Nr2e3
|
UTSW |
9 |
59,856,617 (GRCm39) |
intron |
probably benign |
|
R5586:Nr2e3
|
UTSW |
9 |
59,856,484 (GRCm39) |
missense |
probably damaging |
0.99 |
R5811:Nr2e3
|
UTSW |
9 |
59,850,701 (GRCm39) |
small deletion |
probably benign |
|
R5812:Nr2e3
|
UTSW |
9 |
59,850,701 (GRCm39) |
small deletion |
probably benign |
|
R5813:Nr2e3
|
UTSW |
9 |
59,850,701 (GRCm39) |
small deletion |
probably benign |
|
R7267:Nr2e3
|
UTSW |
9 |
59,855,972 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7467:Nr2e3
|
UTSW |
9 |
59,856,434 (GRCm39) |
splice site |
probably null |
|
R7642:Nr2e3
|
UTSW |
9 |
59,854,671 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7999:Nr2e3
|
UTSW |
9 |
59,856,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATTCTACTGCCCAAGC -3'
(R):5'- CCTGTATTGAAATGCCCCTGG -3'
Sequencing Primer
(F):5'- ATTAGGATGGCAATGAATATGCC -3'
(R):5'- TGGCTGGCCCTGGACAAC -3'
|
Posted On |
2015-04-17 |