Incidental Mutation 'R9383:Opn1sw'
ID |
710146 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R9383 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29376670-29380512 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29378000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 328
(S328P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031779]
[ENSMUST00000080428]
[ENSMUST00000090481]
[ENSMUST00000147483]
[ENSMUST00000172974]
[ENSMUST00000173216]
[ENSMUST00000173653]
[ENSMUST00000173694]
[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 |
possibly damaging
Transcript: ENSMUST00000080428
AA Change: S328P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000079289 Gene: ENSMUSG00000058831 AA Change: S328P
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 |
unknown
Transcript: ENSMUST00000147483
AA Change: S265P
|
SMART Domains |
Protein: ENSMUSP00000133745 Gene: ENSMUSG00000058831 AA Change: S265P
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: ENSMUST00000156163
|
SMART Domains |
Protein: ENSMUSP00000133615 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
EFh
|
26 |
54 |
9.61e1 |
SMART |
EFh
|
63 |
91 |
2.03e-2 |
SMART |
Blast:EFh
|
104 |
132 |
3e-11 |
BLAST |
|
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: ENSMUST00000173216
|
SMART Domains |
Protein: ENSMUSP00000134708 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
EFh
|
3 |
31 |
9.61e1 |
SMART |
EFh
|
40 |
68 |
2.03e-2 |
SMART |
Blast:EFh
|
81 |
109 |
2e-11 |
BLAST |
EFh
|
117 |
145 |
5.75e1 |
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: ENSMUST00000173694
|
SMART Domains |
Protein: ENSMUSP00000133436 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EFh
|
72 |
100 |
5.38e0 |
SMART |
EFh
|
108 |
136 |
5.75e1 |
SMART |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg5 |
A |
G |
8: 95,661,162 (GRCm39) |
E124G |
|
Het |
Atp1a2 |
T |
C |
1: 172,107,334 (GRCm39) |
I729V |
probably benign |
Het |
Ccn2 |
T |
G |
10: 24,471,883 (GRCm39) |
V58G |
possibly damaging |
Het |
Chd2 |
T |
A |
7: 73,098,918 (GRCm39) |
E1467V |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,803,110 (GRCm39) |
D1285G |
unknown |
Het |
Coro7 |
A |
G |
16: 4,452,888 (GRCm39) |
C287R |
probably damaging |
Het |
Cpa3 |
T |
C |
3: 20,283,045 (GRCm39) |
E134G |
probably benign |
Het |
Csf3r |
C |
T |
4: 125,937,239 (GRCm39) |
P708S |
possibly damaging |
Het |
Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,646,819 (GRCm39) |
I1070K |
probably benign |
Het |
Dnm2 |
G |
A |
9: 21,383,920 (GRCm39) |
V234M |
probably damaging |
Het |
Drg2 |
T |
A |
11: 60,350,287 (GRCm39) |
M82K |
probably benign |
Het |
Dus2 |
G |
A |
8: 106,776,950 (GRCm39) |
E312K |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,756,620 (GRCm39) |
E1240G |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
Gpnmb |
A |
G |
6: 49,028,918 (GRCm39) |
S479G |
probably damaging |
Het |
Gpr153 |
T |
C |
4: 152,367,516 (GRCm39) |
S456P |
probably benign |
Het |
Gprc5b |
A |
T |
7: 118,575,761 (GRCm39) |
M388K |
probably damaging |
Het |
H2-T23 |
T |
C |
17: 36,343,227 (GRCm39) |
D50G |
possibly damaging |
Het |
Hipk1 |
T |
C |
3: 103,684,883 (GRCm39) |
E244G |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,700,012 (GRCm39) |
C620S |
unknown |
Het |
Maz |
G |
A |
7: 126,624,083 (GRCm39) |
Q358* |
probably null |
Het |
Mcc |
A |
T |
18: 44,575,985 (GRCm39) |
I901N |
probably benign |
Het |
Megf11 |
T |
G |
9: 64,545,732 (GRCm39) |
C172G |
probably damaging |
Het |
Mipol1 |
A |
G |
12: 57,352,820 (GRCm39) |
Y53C |
probably benign |
Het |
Nectin4 |
C |
T |
1: 171,213,251 (GRCm39) |
T391I |
probably damaging |
Het |
Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,628,918 (GRCm39) |
|
probably null |
Het |
Nsun4 |
A |
G |
4: 115,891,473 (GRCm39) |
V302A |
probably benign |
Het |
Odf2 |
T |
A |
2: 29,791,249 (GRCm39) |
L181H |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,338,854 (GRCm39) |
I17T |
probably damaging |
Het |
Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
Pik3c2g |
T |
A |
6: 139,827,742 (GRCm39) |
Y712* |
probably null |
Het |
Pkd1 |
C |
T |
17: 24,794,900 (GRCm39) |
R2196C |
probably damaging |
Het |
Pkd1l3 |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
8: 110,350,601 (GRCm39) |
|
probably benign |
Het |
Plekhm2 |
A |
T |
4: 141,359,612 (GRCm39) |
M385K |
probably damaging |
Het |
Pole |
T |
C |
5: 110,438,892 (GRCm39) |
V164A |
possibly damaging |
Het |
Prr19 |
T |
A |
7: 25,002,335 (GRCm39) |
F11Y |
probably damaging |
Het |
Prtg |
G |
T |
9: 72,757,143 (GRCm39) |
L355F |
probably benign |
Het |
Raph1 |
C |
A |
1: 60,564,829 (GRCm39) |
M219I |
unknown |
Het |
Rtkn2 |
A |
G |
10: 67,839,094 (GRCm39) |
D140G |
possibly damaging |
Het |
Serpina5 |
T |
C |
12: 104,070,131 (GRCm39) |
S343P |
probably damaging |
Het |
Slc1a1 |
A |
G |
19: 28,889,125 (GRCm39) |
K466R |
probably benign |
Het |
Slc43a1 |
G |
A |
2: 84,690,506 (GRCm39) |
V518M |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,227,749 (GRCm39) |
L125P |
probably damaging |
Het |
Slc4a7 |
C |
A |
14: 14,766,803 (GRCm38) |
C585* |
probably null |
Het |
Snx19 |
A |
G |
9: 30,347,196 (GRCm39) |
E713G |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,655,561 (GRCm39) |
V715M |
probably damaging |
Het |
Tln2 |
T |
A |
9: 67,278,043 (GRCm39) |
M322L |
probably benign |
Het |
Top2a |
G |
A |
11: 98,901,884 (GRCm39) |
R449* |
probably null |
Het |
Trpv4 |
C |
A |
5: 114,796,474 (GRCm39) |
|
probably benign |
Het |
Vmn1r214 |
A |
C |
13: 23,219,095 (GRCm39) |
R196S |
probably benign |
Het |
Vmn1r43 |
A |
T |
6: 89,846,552 (GRCm39) |
H311Q |
possibly damaging |
Het |
Vmn1r54 |
A |
G |
6: 90,247,009 (GRCm39) |
T308A |
probably benign |
Het |
Zfand3 |
T |
A |
17: 30,354,479 (GRCm39) |
Y99N |
probably benign |
Het |
Zfp119b |
T |
C |
17: 56,246,355 (GRCm39) |
Y277C |
probably damaging |
Het |
Zfp345 |
G |
A |
2: 150,314,503 (GRCm39) |
H345Y |
possibly damaging |
Het |
Zyg11a |
T |
C |
4: 108,046,926 (GRCm39) |
E516G |
probably damaging |
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 |
R6784:Opn1sw
|
UTSW |
6 |
29,379,846 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AAATGGTCCATGTGGCCCTG -3'
(R):5'- ACATCAACAGTAACAGGTGTCTAGC -3'
Sequencing Primer
(F):5'- TAACAGGAAAATGAAGGTGACTCAC -3'
(R):5'- CATATGGAAACCAGGCTGTCCTTG -3'
|
Posted On |
2022-04-18 |