Incidental Mutation 'K7371:Opn5'
| ID |
7857 |
| Institutional Source |
Beutler Lab
|
| 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 # |
K7371
of strain
614
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
42867674-42922286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42891522 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 305
(I305T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068355]
|
| AlphaFold |
Q6VZZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068355
AA Change: I305T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: I305T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
306 |
3.4e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.4380 |
| Coding Region Coverage |
|
| Validation Efficiency |
72% (67/93) |
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,767 (GRCm39) |
Y155C |
probably benign |
Homo |
| Alpi |
G |
A |
1: 87,026,893 (GRCm39) |
|
probably benign |
Homo |
| Ap4e1 |
T |
A |
2: 126,908,456 (GRCm39) |
|
probably benign |
Het |
| Arhgdib |
A |
T |
6: 136,909,297 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,425,868 (GRCm39) |
|
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,289 (GRCm39) |
M1K |
probably null |
Het |
| Ell3 |
T |
C |
2: 121,269,969 (GRCm39) |
H380R |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,755,710 (GRCm39) |
V658A |
probably damaging |
Homo |
| Ern1 |
A |
T |
11: 106,291,101 (GRCm39) |
I858N |
probably damaging |
Homo |
| Mtmr10 |
G |
A |
7: 63,963,958 (GRCm39) |
G231D |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Homo |
| Pak2 |
T |
C |
16: 31,852,602 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,400,838 (GRCm39) |
I2204K |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,363,463 (GRCm39) |
T628S |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,744,453 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
G |
A |
14: 30,872,206 (GRCm39) |
L1194F |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,779,153 (GRCm39) |
|
probably null |
Homo |
| Tet1 |
T |
C |
10: 62,714,955 (GRCm39) |
D280G |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,918,298 (GRCm39) |
I227T |
probably benign |
Homo |
| Wdr87-ps |
A |
G |
7: 29,230,417 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
2012-11-12 |
Incidental Mutation