Incidental Mutation 'IGL01554:Opn5'
| ID |
90675 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Opn5
|
| Ensembl Gene |
ENSMUSG00000043972 |
| Gene Name |
opsin 5 |
| Synonyms |
TMEM13, Gpr136, Neuropsin, PGR12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
IGL01554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
42867674-42922286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42918089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 58
(S58P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068355]
|
| AlphaFold |
Q6VZZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068355
AA Change: S58P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: S58P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
306 |
3.4e-41 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
| Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
| Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
| Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
| Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
| Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
| Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
| Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
| Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
| Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
| Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
| Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly damaging |
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 |
|
|
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 |
|
R0971:Opn5
|
UTSW |
17 |
42,922,218 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation