Mutagenetix > Incidental Mutation

Incidental Mutation 'R4418:Opn1sw'

326930

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

041139-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29376670-29380512 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 29379423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 45 (R45*)

Ref Sequence

ENSEMBL: ENSMUSP00000133534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031779] [ENSMUST00000080428] [ENSMUST00000090481] [ENSMUST00000147483] [ENSMUST00000173653] [ENSMUST00000173216] [ENSMUST00000173694] [ENSMUST00000174096] [ENSMUST00000172974]

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 null
Transcript: ENSMUST00000080428
AA Change: R194*

SMART Domains

Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
AA Change: R194*

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

noncoding transcript
Transcript: ENSMUST00000131928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138523

Predicted Effect

probably null
Transcript: ENSMUST00000147483
AA Change: R194*

SMART Domains

Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
AA Change: R194*

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 null
Transcript: ENSMUST00000173653
AA Change: R45*

SMART Domains

Protein: ENSMUSP00000133534
Gene: ENSMUSG00000058831
AA Change: R45*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	61	6.6e-7	PFAM

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: 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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,872,372 (GRCm39)		noncoding transcript	Het
Acot12	A	G	13: 91,932,524 (GRCm39)	T507A	possibly damaging	Het
Agap2	T	G	10: 126,927,519 (GRCm39)	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 95,131,921 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,146,413 (GRCm39)	R39G	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdcp3	A	T	7: 130,849,194 (GRCm39)	D899V	possibly damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,554,239 (GRCm39)	K323*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dclre1c	T	C	2: 3,453,972 (GRCm39)	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,114,234 (GRCm39)	M360R	probably benign	Het
Dele1	T	C	18: 38,394,340 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,563,963 (GRCm39)	L462Q	probably damaging	Het
Drg2	A	C	11: 60,358,972 (GRCm39)	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,535,238 (GRCm39)	S167R	probably damaging	Het
Entrep1	T	C	19: 23,956,799 (GRCm39)	T365A	probably benign	Het
Fer	A	T	17: 64,336,286 (GRCm39)	D554V	possibly damaging	Het
Fignl2	A	G	15: 100,951,830 (GRCm39)	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,388,420 (GRCm39)	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,986,302 (GRCm39)	I79K	probably damaging	Het
Gpr6	T	G	10: 40,946,604 (GRCm39)	N326T	probably damaging	Het
H2bc4	C	T	13: 23,868,486 (GRCm39)	T91M	probably damaging	Het
Hcn4	C	T	9: 58,751,178 (GRCm39)	T268M	probably benign	Het
Hnf4g	A	G	3: 3,713,154 (GRCm39)	M243V	possibly damaging	Het
Homer1	A	G	13: 93,538,577 (GRCm39)	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,143,108 (GRCm39)	Y348H	probably damaging	Het
Ifitm6	A	T	7: 140,595,984 (GRCm39)	I103N	probably damaging	Het
Ipo5	T	G	14: 121,181,305 (GRCm39)	C944G	possibly damaging	Het
Kcnb1	C	A	2: 166,947,595 (GRCm39)	E418*	probably null	Het
Kcnk2	G	A	1: 188,988,924 (GRCm39)	R207C	probably damaging	Het
Kctd8	T	C	5: 69,498,505 (GRCm39)	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,354,371 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,509,140 (GRCm39)		probably benign	Het
Mgat1	A	G	11: 49,152,072 (GRCm39)	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,863,044 (GRCm39)	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,522,012 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nek1	T	C	8: 61,559,898 (GRCm39)	F1007S	probably damaging	Het
Neto1	T	C	18: 86,422,981 (GRCm39)	M146T	probably benign	Het
Osbpl5	A	T	7: 143,263,552 (GRCm39)	C98*	probably null	Het
Pacc1	T	A	1: 191,080,629 (GRCm39)	V283E	probably damaging	Het
Pcdhb7	C	T	18: 37,476,535 (GRCm39)	A557V	probably benign	Het
Pecam1	A	G	11: 106,586,748 (GRCm39)	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pmfbp1	C	A	8: 110,257,265 (GRCm39)	Q609K	probably benign	Het
Pnpo	A	T	11: 96,831,795 (GRCm39)		probably null	Het
Ppp2cb	G	A	8: 34,107,077 (GRCm39)	R254Q	probably benign	Het
Qser1	A	T	2: 104,619,766 (GRCm39)	S349T	probably damaging	Het
Rnf167	T	A	11: 70,538,743 (GRCm39)	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879 (GRCm38)		noncoding transcript	Het
Rxfp2	A	T	5: 149,972,265 (GRCm39)	H158L	probably benign	Het
Ryr3	C	T	2: 112,661,569 (GRCm39)	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,745,464 (GRCm39)	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,594,835 (GRCm39)	C542S	probably benign	Het
Slc6a19	A	G	13: 73,832,514 (GRCm39)	V393A	possibly damaging	Het
Stil	A	G	4: 114,866,574 (GRCm39)	N176S	probably benign	Het
Tap1	T	A	17: 34,407,353 (GRCm39)		probably null	Het
Tcl1b3	A	T	12: 105,159,844 (GRCm39)	Q105L	probably damaging	Het
Trappc10	G	T	10: 78,053,022 (GRCm39)	A251D	probably damaging	Het
Trim43a	G	T	9: 88,464,206 (GRCm39)	C39F	probably damaging	Het
Ttn	A	T	2: 76,719,825 (GRCm39)		probably benign	Het
Vmn2r110	A	T	17: 20,803,951 (GRCm39)	L208*	probably null	Het
Vmn2r88	G	T	14: 51,655,538 (GRCm39)	L583F	probably damaging	Het
Wasf1	C	T	10: 40,812,578 (GRCm39)	H456Y	unknown	Het
Zfp120	A	G	2: 149,960,105 (GRCm39)	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,263,298 (GRCm39)	C99R	possibly 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
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
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'- CTGACCACGGATATTCTAGACGTATC -3'
(R):5'- CGCTGGAGACATCAATGGTTAC -3'

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

Posted On

2015-07-07