Incidental Mutation 'R6784:Opn1sw'
| ID |
531556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Opn1sw
|
| Ensembl Gene |
ENSMUSG00000058831 |
| Gene Name |
opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) |
| Synonyms |
Blue/UV Opsin, Bcp, UV cone pigment, Blue Opsin, SWS opsin, Short Wavelength Sensitive opsin, S Opsin, Blue Cone Opsin |
| MMRRC Submission |
044898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29376670-29380512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29379846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 129
(E129D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031779]
[ENSMUST00000080428]
[ENSMUST00000090481]
[ENSMUST00000147483]
[ENSMUST00000172974]
[ENSMUST00000173653]
[ENSMUST00000174096]
|
| AlphaFold |
P51491 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031779
|
| SMART Domains |
Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EFh
|
72 |
100 |
1.1e1 |
SMART |
|
Blast:EFh
|
108 |
136 |
3e-11 |
BLAST |
|
EFh
|
155 |
183 |
9.61e1 |
SMART |
|
EFh
|
192 |
220 |
2.03e-2 |
SMART |
|
Blast:EFh
|
233 |
261 |
2e-10 |
BLAST |
|
EFh
|
269 |
297 |
5.75e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080428
AA Change: E129D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
AA Change: E129D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
41 |
318 |
4e-9 |
PFAM |
|
Pfam:7tm_1
|
49 |
301 |
2.5e-43 |
PFAM |
|
Pfam:7tm_4
|
188 |
319 |
6.2e-8 |
PFAM |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090481
|
| SMART Domains |
Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EFh
|
72 |
100 |
1.82e0 |
SMART |
|
EFh
|
108 |
136 |
2.44e1 |
SMART |
|
EFh
|
155 |
183 |
9.61e1 |
SMART |
|
EFh
|
192 |
220 |
2.03e-2 |
SMART |
|
Blast:EFh
|
233 |
261 |
2e-10 |
BLAST |
|
EFh
|
269 |
297 |
5.75e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147483
AA Change: E129D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
AA Change: E129D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
40 |
250 |
9.2e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
41 |
254 |
1.8e-6 |
PFAM |
|
Pfam:7tm_1
|
49 |
271 |
1.9e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172607
|
| SMART Domains |
Protein: ENSMUSP00000133609
Gene: ENSMUSG00000029767
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
2 |
20 |
1e-5 |
BLAST |
|
SCOP:d2mysb_
|
2 |
51 |
6e-5 |
SMART |
|
Blast:EFh
|
28 |
56 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172974
|
| SMART Domains |
Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EFh
|
72 |
100 |
1.1e1 |
SMART |
|
Blast:EFh
|
108 |
136 |
1e-11 |
BLAST |
|
EFh
|
155 |
183 |
9.61e1 |
SMART |
|
EFh
|
192 |
220 |
1.41e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173653
|
| SMART Domains |
Protein: ENSMUSP00000133534
Gene: ENSMUSG00000058831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
61 |
6.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174096
|
| SMART Domains |
Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_7
|
43 |
97 |
5.3e-8 |
PFAM |
|
Pfam:EF-hand_6
|
72 |
101 |
6.5e-5 |
PFAM |
|
Pfam:EF-hand_7
|
72 |
133 |
5e-12 |
PFAM |
|
Pfam:EF-hand_5
|
73 |
98 |
4.5e-5 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.2%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal cone physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
T |
6: 23,093,895 (GRCm39) |
S142N |
probably null |
Het |
| Aida |
A |
G |
1: 183,103,346 (GRCm39) |
Y275C |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,398,594 (GRCm39) |
I74T |
probably benign |
Het |
| C1ql4 |
A |
G |
15: 98,985,290 (GRCm39) |
V107A |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,360,884 (GRCm39) |
V284A |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,839,213 (GRCm39) |
E32G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,808,174 (GRCm39) |
D1680G |
probably damaging |
Het |
| Cog7 |
A |
T |
7: 121,563,516 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,741 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,319,084 (GRCm39) |
V116E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,854,890 (GRCm39) |
K1932E |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,780,926 (GRCm39) |
S2086P |
probably damaging |
Het |
| Espl1 |
C |
G |
15: 102,207,660 (GRCm39) |
R375G |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,443,275 (GRCm39) |
S526L |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gigyf2 |
G |
T |
1: 87,371,396 (GRCm39) |
V1170L |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,009,133 (GRCm39) |
T41K |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,990,086 (GRCm39) |
|
probably null |
Het |
| H2bc4 |
T |
C |
13: 23,868,483 (GRCm39) |
I90T |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,322 (GRCm39) |
|
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,817 (GRCm39) |
D207G |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,240 (GRCm39) |
N57D |
probably benign |
Het |
| Map2k4 |
T |
C |
11: 65,582,577 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
G |
T |
15: 80,096,401 (GRCm39) |
Q409H |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,892,974 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,105,396 (GRCm39) |
L1062Q |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,439,725 (GRCm39) |
K183* |
probably null |
Het |
| Npat |
G |
C |
9: 53,469,458 (GRCm39) |
D315H |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,912,766 (GRCm39) |
V63A |
probably damaging |
Het |
| Or10ag2 |
C |
T |
2: 87,248,796 (GRCm39) |
R135C |
probably benign |
Het |
| Or1e29 |
T |
G |
11: 73,667,676 (GRCm39) |
H159P |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,722 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,989 (GRCm39) |
D296V |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,764 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,698 (GRCm39) |
D105E |
probably benign |
Het |
| Pwwp4c |
C |
T |
X: 73,684,021 (GRCm39) |
R355H |
probably damaging |
Homo |
| Rbm27 |
T |
C |
18: 42,434,929 (GRCm39) |
M331T |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Sla2 |
C |
T |
2: 156,725,589 (GRCm39) |
S3N |
unknown |
Het |
| Slc10a6 |
A |
G |
5: 103,776,896 (GRCm39) |
I68T |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,460 (GRCm39) |
F493S |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,263,845 (GRCm39) |
Y847N |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,805,015 (GRCm39) |
|
probably null |
Het |
| Vps8 |
C |
A |
16: 21,381,957 (GRCm39) |
Q1130K |
probably benign |
Het |
|
| Other mutations in Opn1sw |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03157:Opn1sw
|
APN |
6 |
29,379,803 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0550:Opn1sw
|
UTSW |
6 |
29,380,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Opn1sw
|
UTSW |
6 |
29,378,923 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1902:Opn1sw
|
UTSW |
6 |
29,379,803 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4085:Opn1sw
|
UTSW |
6 |
29,380,143 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4418:Opn1sw
|
UTSW |
6 |
29,379,423 (GRCm39) |
nonsense |
probably null |
|
|
R4812:Opn1sw
|
UTSW |
6 |
29,378,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5692:Opn1sw
|
UTSW |
6 |
29,379,840 (GRCm39) |
unclassified |
probably benign |
|
|
R5839:Opn1sw
|
UTSW |
6 |
29,379,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Opn1sw
|
UTSW |
6 |
29,379,754 (GRCm39) |
splice site |
probably null |
|
|
R6045:Opn1sw
|
UTSW |
6 |
29,379,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Opn1sw
|
UTSW |
6 |
29,379,413 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7259:Opn1sw
|
UTSW |
6 |
29,378,911 (GRCm39) |
missense |
probably benign |
|
|
R7315:Opn1sw
|
UTSW |
6 |
29,379,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Opn1sw
|
UTSW |
6 |
29,379,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Opn1sw
|
UTSW |
6 |
29,380,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9383:Opn1sw
|
UTSW |
6 |
29,378,000 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9385:Opn1sw
|
UTSW |
6 |
29,379,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9591:Opn1sw
|
UTSW |
6 |
29,378,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Opn1sw
|
UTSW |
6 |
29,379,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Opn1sw
|
UTSW |
6 |
29,380,343 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCATTGATGTCTCCAGCGG -3'
(R):5'- GACCTCTAACAATGGGCTGTG -3'
Sequencing Primer
(F):5'- AAAGGTTATACCCAATCTCTCGTC -3'
(R):5'- GTGTGAGCATTAAACTCCATTCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation