Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Opn1sw'

567874

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

045368-MU

Accession Numbers

Essential gene?

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

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29376670-29380512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29379362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 214 (I214N)

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: I214N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
AA Change: I214N

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: I214N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
AA Change: I214N

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 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: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 119,893,341 (GRCm39)	I1264L	probably benign	Het
Abcg8	C	A	17: 85,004,142 (GRCm39)	D484E	probably damaging	Het
Abhd13	T	A	8: 10,037,970 (GRCm39)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acp3	A	G	9: 104,193,423 (GRCm39)		probably null	Het
Agpat4	C	T	17: 12,429,185 (GRCm39)	R146C	probably damaging	Het
Antxrl	T	C	14: 33,793,504 (GRCm39)	S411P	unknown	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Camk1d	T	C	2: 5,344,041 (GRCm39)	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,905,420 (GRCm39)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,284,461 (GRCm39)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,406,270 (GRCm39)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,547,476 (GRCm39)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,137,625 (GRCm39)	S896N	possibly damaging	Het
Crppa	A	G	12: 36,440,373 (GRCm39)	T94A	probably benign	Het
Cst7	C	A	2: 150,412,503 (GRCm39)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,061,743 (GRCm39)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,656,423 (GRCm39)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,712,217 (GRCm39)	I118F	probably damaging	Het
Eif1ad2	A	G	12: 87,786,473 (GRCm39)	E128G	unknown	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Epha3	A	T	16: 63,372,972 (GRCm39)	D910E	probably benign	Het
Ext1	T	C	15: 52,936,783 (GRCm39)	D654G	probably damaging	Het
Fnip2	A	G	3: 79,413,512 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,802,486 (GRCm39)	H1032Q	probably benign	Het
Kitl	G	A	10: 99,851,974 (GRCm39)	R31H	unknown	Het
Lcp2	G	A	11: 34,019,906 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,322,166 (GRCm39)	H1921R	probably damaging	Het
Lvrn	A	G	18: 47,010,051 (GRCm39)	T400A	probably benign	Het
Mak16	G	A	8: 31,654,766 (GRCm39)	R143*	probably null	Het
Mettl23	A	G	11: 116,739,928 (GRCm39)	I159V	probably benign	Het
Mr1	T	C	1: 155,005,036 (GRCm39)	N335D	probably benign	Het
Muc2	T	C	7: 141,276,645 (GRCm39)	C12R	probably damaging	Het
Myom1	T	C	17: 71,387,892 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,198,037 (GRCm39)	N33S	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Nmt1	A	G	11: 102,951,009 (GRCm39)	N367D	probably benign	Het
Noc2l	T	G	4: 156,325,817 (GRCm39)	S354R	probably damaging	Het
Or12d14-ps1	G	T	17: 37,673,551 (GRCm39)	C181F	probably damaging	Het
Or13e8	T	A	4: 43,696,961 (GRCm39)	I71F	probably damaging	Het
Or14c40	T	C	7: 86,313,445 (GRCm39)	S192P	probably damaging	Het
Or4k52	T	C	2: 111,611,004 (GRCm39)	V113A	probably damaging	Het
Or5ac16	A	G	16: 59,022,496 (GRCm39)	F98L	probably benign	Het
Or7e169	G	T	9: 19,757,131 (GRCm39)	S261R	probably damaging	Het
Or8a1	T	C	9: 37,641,872 (GRCm39)	M136V	probably benign	Het
Or8b9	A	T	9: 37,766,543 (GRCm39)	Y143F	probably benign	Het
Papss2	T	C	19: 32,616,625 (GRCm39)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,926,085 (GRCm39)	I291M	probably benign	Het
Ptprb	T	A	10: 116,198,284 (GRCm39)	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,624,504 (GRCm39)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,761,477 (GRCm39)	M268V	probably benign	Het
Rbl2	A	T	8: 91,802,640 (GRCm39)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,124,637 (GRCm39)		probably null	Het
Rpgrip1	C	T	14: 52,358,458 (GRCm39)	T188I	not run	Het
Rrp1b	T	A	17: 32,277,545 (GRCm39)	F608L	probably benign	Het
Sbp	C	T	17: 24,164,280 (GRCm39)	A154V	probably benign	Het
Scara3	C	T	14: 66,168,889 (GRCm39)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 33,156,240 (GRCm39)	D110V	probably benign	Het
Skic2	T	A	17: 35,060,145 (GRCm39)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,837,259 (GRCm39)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,247,310 (GRCm39)	S462P	probably damaging	Het
Slc66a1	G	A	4: 139,029,181 (GRCm39)	T101M	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Srf	T	C	17: 46,862,720 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,155,642 (GRCm39)	V439A	probably benign	Het
Syt10	C	T	15: 89,698,541 (GRCm39)	D268N	probably damaging	Het
Tent5b	C	T	4: 133,214,395 (GRCm39)	T422I	probably damaging	Het
Terf2	T	C	8: 107,807,849 (GRCm39)	N242S	probably benign	Het
Tex15	A	G	8: 34,071,544 (GRCm39)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 115,938,806 (GRCm39)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,614,354 (GRCm39)	N837K	probably benign	Het
Trim67	T	A	8: 125,521,069 (GRCm39)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,272,082 (GRCm39)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,776,385 (GRCm39)	V1184E	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
R6784:Opn1sw	UTSW	6	29,379,846 (GRCm39)	missense	probably damaging	1.00
R7259:Opn1sw	UTSW	6	29,378,911 (GRCm39)	missense	probably benign
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'- GTAACAGCGTTTTCACTCCC -3'
(R):5'- ACTGTAGTGTCTTCTGGCATTC -3'

Sequencing Primer
(F):5'- CCCTTCCCCAATACTCCTATCTGAC -3'
(R):5'- CTGGCATTCTTCCAACTGGAGAAG -3'

Posted On

2019-06-26