Incidental Mutation 'IGL01372:Opn5'
| ID |
76201 |
| 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? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
IGL01372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
42867674-42922286 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 42891435 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,842,089 (GRCm39) |
D1049N |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,411,421 (GRCm39) |
L362Q |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,822,594 (GRCm39) |
N37K |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,106,510 (GRCm39) |
R831G |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,316,943 (GRCm39) |
D638G |
probably damaging |
Het |
| Cabp4 |
T |
A |
19: 4,189,322 (GRCm39) |
E78D |
probably benign |
Het |
| Cmtm8 |
A |
G |
9: 114,619,755 (GRCm39) |
V130A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,678,393 (GRCm39) |
T66A |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,705,409 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Dnah10 |
G |
A |
5: 124,856,218 (GRCm39) |
G2060D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,156,134 (GRCm39) |
H172R |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,230,636 (GRCm39) |
A178V |
probably benign |
Het |
| Efcab6 |
T |
G |
15: 83,928,505 (GRCm39) |
M30L |
possibly damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,765,817 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,179,303 (GRCm39) |
E230K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,301,911 (GRCm39) |
I258M |
probably damaging |
Het |
| Gm5581 |
G |
A |
6: 131,145,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hrh1 |
G |
A |
6: 114,456,958 (GRCm39) |
V80I |
probably damaging |
Het |
| Ldhd |
G |
A |
8: 112,355,032 (GRCm39) |
H290Y |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,592,774 (GRCm39) |
E130K |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,397,282 (GRCm39) |
I40V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,317,534 (GRCm39) |
|
probably null |
Het |
| Or1j14 |
T |
A |
2: 36,417,463 (GRCm39) |
I13N |
probably benign |
Het |
| Or5ac24 |
A |
G |
16: 59,165,524 (GRCm39) |
I180T |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,930 (GRCm39) |
T521S |
possibly damaging |
Het |
| Pcsk5 |
T |
G |
19: 17,595,108 (GRCm39) |
T409P |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,680,685 (GRCm39) |
F322Y |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,710,985 (GRCm39) |
I406F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,942 (GRCm39) |
S1998P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,102,433 (GRCm39) |
Y2531H |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,445,923 (GRCm39) |
V932A |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,559,437 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,887 (GRCm39) |
Y224F |
probably damaging |
Het |
| Rps6kl1 |
A |
T |
12: 85,193,663 (GRCm39) |
C143S |
probably damaging |
Het |
| S100a7l2 |
A |
G |
3: 90,995,616 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
G |
A |
8: 71,343,020 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,369,878 (GRCm39) |
S182P |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,261,746 (GRCm39) |
H608R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,075,772 (GRCm39) |
H459Q |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,270,022 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,344,334 (GRCm39) |
S2192P |
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 |
|
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 |
2013-10-07 |
Incidental Mutation