Incidental Mutation 'IGL00944:Opn5'
| ID |
29297 |
| 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 # |
IGL00944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
42867674-42922286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42922119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 28
(L28F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068355]
|
| AlphaFold |
Q6VZZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068355
AA Change: L28F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: L28F
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
| Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
| Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
| Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
| Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
| Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
| Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
| Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
| Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
| Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
| Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
| Other mutations in Opn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation