Incidental Mutation 'R0971:Opn5'
| ID |
262384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Opn5
|
| Ensembl Gene |
ENSMUSG00000043972 |
| Gene Name |
opsin 5 |
| Synonyms |
TMEM13, Gpr136, Neuropsin, PGR12 |
| MMRRC Submission |
039100-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R0971 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
42867674-42922286 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 42922218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068355]
[ENSMUST00000068355]
|
| AlphaFold |
Q6VZZ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068355
|
| SMART Domains |
Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
306 |
3.4e-41 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000068355
|
| SMART Domains |
Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
306 |
3.4e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit light/dark entrainment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,742,327 (GRCm39) |
E715K |
possibly damaging |
Het |
| Cbr2 |
T |
A |
11: 120,621,259 (GRCm39) |
I147F |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,755,620 (GRCm39) |
N302S |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,969,677 (GRCm39) |
H732Q |
probably benign |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Itln1 |
C |
A |
1: 171,356,772 (GRCm39) |
V236F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,326,590 (GRCm39) |
E104G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,032,927 (GRCm39) |
F71L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,447,392 (GRCm39) |
M1399T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,824,784 (GRCm39) |
V1324A |
possibly damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,271,257 (GRCm39) |
H713L |
possibly damaging |
Het |
| Poteg |
A |
T |
8: 27,937,967 (GRCm39) |
Y41F |
probably damaging |
Het |
| Prb1b |
T |
A |
6: 132,290,618 (GRCm39) |
D27V |
unknown |
Het |
| Psd2 |
C |
A |
18: 36,112,839 (GRCm39) |
T178K |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,687,657 (GRCm39) |
T374A |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,041,246 (GRCm39) |
|
probably null |
Het |
| Tmem120a |
A |
G |
5: 135,764,958 (GRCm39) |
L272P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,272 (GRCm39) |
I30F |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,937,647 (GRCm39) |
D465G |
possibly damaging |
Het |
| Zan |
G |
A |
5: 137,432,325 (GRCm39) |
A2324V |
unknown |
Het |
|
| Other mutations in Opn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Opn5
|
APN |
17 |
42,922,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Opn5
|
APN |
17 |
42,891,435 (GRCm39) |
splice site |
probably null |
|
|
IGL01554:Opn5
|
APN |
17 |
42,918,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02363:Opn5
|
APN |
17 |
42,868,382 (GRCm39) |
missense |
probably benign |
|
|
IGL02421:Opn5
|
APN |
17 |
42,907,446 (GRCm39) |
splice site |
probably benign |
|
|
IGL02720:Opn5
|
APN |
17 |
42,907,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K7371:Opn5
|
UTSW |
17 |
42,891,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Opn5
|
UTSW |
17 |
42,907,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Opn5
|
UTSW |
17 |
42,907,495 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0505:Opn5
|
UTSW |
17 |
42,903,844 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2035:Opn5
|
UTSW |
17 |
42,918,052 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4723:Opn5
|
UTSW |
17 |
42,918,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Opn5
|
UTSW |
17 |
42,922,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4874:Opn5
|
UTSW |
17 |
42,891,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4955:Opn5
|
UTSW |
17 |
42,922,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Opn5
|
UTSW |
17 |
42,903,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5924:Opn5
|
UTSW |
17 |
42,922,199 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R6478:Opn5
|
UTSW |
17 |
42,891,640 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7831:Opn5
|
UTSW |
17 |
42,891,510 (GRCm39) |
missense |
probably null |
0.85 |
|
R9182:Opn5
|
UTSW |
17 |
42,903,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Opn5
|
UTSW |
17 |
42,903,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Opn5
|
UTSW |
17 |
42,903,582 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Opn5
|
UTSW |
17 |
42,907,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation