Incidental Mutation 'R5811:Nr2e3'
ID |
447521 |
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 |
043213-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5811 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
59850054-59867942 bp(-) (GRCm39) |
Type of Mutation |
small deletion (5 aa in frame mutation) |
DNA Base Change (assembly) |
TCCATCGGAGTGTTCCC to TC
at 59850701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034831]
|
AlphaFold |
Q9QXZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034831
|
SMART Domains |
Protein: ENSMUSP00000034831 Gene: ENSMUSG00000032292
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
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 |
R3919:Nr2e3
|
UTSW |
9 |
59,850,723 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CCCAAGCAGAGTTAGGGGTATTAAG -3'
(R):5'- CCCTGTATTGAAATGCCCCTG -3'
Sequencing Primer
(F):5'- ATTAGGATGGCAATGAATATGCC -3'
(R):5'- TGGCTGGCCCTGGACAAC -3'
|
Posted On |
2016-12-15 |