Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Opn1sw'

710255

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29376670-29380512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29379425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 193 (Y193S)

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

probably damaging
Transcript: ENSMUST00000080428
AA Change: Y193S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
AA Change: Y193S

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: Y193S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
AA Change: Y193S

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: 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 damaging
Transcript: ENSMUST00000173653
AA Change: Y44S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133534
Gene: ENSMUSG00000058831
AA Change: Y44S

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,966 (GRCm39)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,077,258 (GRCm39)	C1308*	probably null	Het
Ank2	A	G	3: 126,753,366 (GRCm39)	V305A	probably benign	Het
Apob	A	G	12: 8,056,399 (GRCm39)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,477,887 (GRCm39)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,322,551 (GRCm39)	Y29*	probably null	Het
Card11	C	A	5: 140,871,276 (GRCm39)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,405,422 (GRCm39)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,833,533 (GRCm39)	R211W	probably benign	Het
Cda	T	G	4: 138,078,598 (GRCm39)	I55L	probably benign	Het
Cdkl3	A	C	11: 51,926,779 (GRCm39)	E577D	probably benign	Het
Cel	T	C	2: 28,450,587 (GRCm39)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,426,878 (GRCm39)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,230,880 (GRCm39)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,455,912 (GRCm39)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm39)	Q1045*	probably null	Het
Csmd1	T	C	8: 16,034,756 (GRCm39)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,601,069 (GRCm39)	R22C	probably benign	Het
Ddit4	A	G	10: 59,787,178 (GRCm39)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,843,096 (GRCm39)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,361,972 (GRCm39)	L3677I	probably damaging	Het
Dscam	T	C	16: 96,840,203 (GRCm39)	T135A	probably benign	Het
Espl1	T	A	15: 102,207,185 (GRCm39)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,819,793 (GRCm39)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,074,120 (GRCm39)		probably benign	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gm3264	T	C	14: 16,058,217 (GRCm39)	I8T	possibly damaging	Het
Gsdmc	A	T	15: 63,675,486 (GRCm39)	Y110N	possibly damaging	Het
H13	A	G	2: 152,537,413 (GRCm39)	N286S	probably benign	Het
H2ac1	A	T	13: 24,118,679 (GRCm39)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,421,423 (GRCm39)	D441G	probably damaging	Het
Hps6	A	G	19: 45,994,349 (GRCm39)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,292,812 (GRCm39)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,738,993 (GRCm39)	I267T	probably benign	Het
Mdc1	A	G	17: 36,161,396 (GRCm39)	K770E	probably benign	Het
Mlh3	C	T	12: 85,316,144 (GRCm39)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,694,750 (GRCm39)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,361,015 (GRCm39)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,781,876 (GRCm39)	G527D	probably damaging	Het
Nop9	A	G	14: 55,988,584 (GRCm39)	E342G	probably benign	Het
Ntn1	C	A	11: 68,276,013 (GRCm39)	G312C	probably damaging	Het
Opcml	T	C	9: 28,586,459 (GRCm39)	V59A	possibly damaging	Het
Or10ad1c	C	T	15: 98,085,486 (GRCm39)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,554,780 (GRCm39)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,401,137 (GRCm39)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,437,982 (GRCm39)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,074,238 (GRCm39)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,116,377 (GRCm39)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,431,724 (GRCm39)	V571A	possibly damaging	Het
Pnma2	A	G	14: 67,153,371 (GRCm39)		probably benign	Het
Rnf123	T	A	9: 107,929,467 (GRCm39)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	T	C	13: 34,528,561 (GRCm39)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,645,563 (GRCm39)	I330T	probably damaging	Het
Snrk	A	T	9: 121,995,463 (GRCm39)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,079,978 (GRCm39)		probably null	Het
Spata31d1b	T	C	13: 59,863,403 (GRCm39)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,032,241 (GRCm39)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,700,356 (GRCm39)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,648,407 (GRCm39)	D234A	probably benign	Het
Tial1	A	G	7: 128,044,209 (GRCm39)	C102R	unknown	Het
Ugt8a	A	T	3: 125,665,263 (GRCm39)	D411E	probably benign	Het
Usp34	A	G	11: 23,399,223 (GRCm39)	D2404G		Het
Vmn1r10	A	C	6: 57,090,833 (GRCm39)	I142L	probably benign	Het
Wdr97	A	G	15: 76,240,367 (GRCm39)	T352A		Het
Xpo7	A	T	14: 70,925,733 (GRCm39)	D435E	probably damaging	Het
Zmym1	A	G	4: 126,952,683 (GRCm39)	S33P	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
R9383:Opn1sw	UTSW	6	29,378,000 (GRCm39)	missense	possibly damaging	0.95
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'- CTGACCACGGATATTCTAGACG -3'
(R):5'- CGCTGGAGACATCAATGGTTAC -3'

Sequencing Primer
(F):5'- CACGGATATTCTAGACGTATCCTGAG -3'
(R):5'- GGAGACATCAATGGTTACTCTGCC -3'

Posted On

2022-04-18