Mutagenetix > Incidental Mutation

Incidental Mutation 'R1902:Opn1sw'

212323

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

039922-MU

Accession Numbers

Essential gene?

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

Stock #

R1902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29376670-29380512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29379803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 144 (N144Y)

Ref Sequence

ENSEMBL: ENSMUSP00000133745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031779] [ENSMUST00000080428] [ENSMUST00000090481] [ENSMUST00000147483] [ENSMUST00000173653] [ENSMUST00000172974] [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 benign
Transcript: ENSMUST00000080428
AA Change: N144Y

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
AA Change: N144Y

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

possibly damaging
Transcript: ENSMUST00000147483
AA Change: N144Y

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
AA Change: N144Y

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: 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: 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: 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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.7%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,584,004 (GRCm39)	Q355*	probably null	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adra1a	T	C	14: 66,875,684 (GRCm39)	S220P	probably benign	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap45	C	A	10: 79,861,300 (GRCm39)	Q488K	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Atxn7l3b	A	G	10: 112,764,578 (GRCm39)	I17T	probably benign	Het
Bpifb9a	A	T	2: 154,103,911 (GRCm39)	N118I	probably benign	Het
Btbd9	A	T	17: 30,749,202 (GRCm39)	D37E	probably damaging	Het
C8a	T	C	4: 104,713,798 (GRCm39)		probably null	Het
Capn13	G	A	17: 73,633,356 (GRCm39)	S535F	probably damaging	Het
Carns1	G	T	19: 4,216,337 (GRCm39)	P615Q	probably damaging	Het
Casz1	T	C	4: 149,020,652 (GRCm39)	I479T	possibly damaging	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Cdc42bpb	T	G	12: 111,292,450 (GRCm39)	S362R	probably damaging	Het
Ceacam11	A	T	7: 17,709,252 (GRCm39)	H150L	probably benign	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Cpeb1	T	C	7: 81,021,867 (GRCm39)	D92G	probably benign	Het
Cped1	T	A	6: 22,120,980 (GRCm39)		probably null	Het
Csf1r	A	G	18: 61,263,213 (GRCm39)	T896A	probably damaging	Het
Csf3r	T	C	4: 125,936,711 (GRCm39)	F658S	probably damaging	Het
Cts6	A	T	13: 61,349,329 (GRCm39)	Y126*	probably null	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Cxcl5	T	C	5: 90,907,644 (GRCm39)	V72A	probably damaging	Het
Cyp4v3	T	A	8: 45,759,989 (GRCm39)	H521L	probably benign	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnai1	A	T	4: 41,625,319 (GRCm39)	K428*	probably null	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
E2f8	T	C	7: 48,520,920 (GRCm39)	H467R	probably benign	Het
Eddm3b	T	A	14: 51,354,321 (GRCm39)	I103N	probably damaging	Het
Gal3st2c	T	G	1: 93,936,611 (GRCm39)	N185K	probably damaging	Het
Ganc	T	C	2: 120,276,963 (GRCm39)	L675P	probably damaging	Het
Garin3	A	T	11: 46,297,838 (GRCm39)	T381S	probably benign	Het
Gdf9	G	A	11: 53,327,780 (GRCm39)	M245I	probably benign	Het
Gm21886	G	A	18: 80,132,633 (GRCm39)	T175I	probably damaging	Het
Gria2	A	G	3: 80,629,415 (GRCm39)	L269P	probably damaging	Het
Grm8	T	C	6: 27,429,481 (GRCm39)	Y471C	probably damaging	Het
Gucy2g	T	A	19: 55,198,669 (GRCm39)	T825S	probably benign	Het
H2-T13	A	T	17: 36,394,845 (GRCm39)	M16K	probably damaging	Het
Iffo2	T	C	4: 139,335,012 (GRCm39)	S124P	probably damaging	Het
Igf1r	T	C	7: 67,850,997 (GRCm39)	Y931H	possibly damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itgb4	T	C	11: 115,871,564 (GRCm39)	V179A	probably damaging	Het
Itpr2	T	A	6: 146,131,201 (GRCm39)	H1968L	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif13a	A	T	13: 46,941,638 (GRCm39)	D946E	probably benign	Het
Klhl22	T	A	16: 17,589,651 (GRCm39)	I104N	probably damaging	Het
Klk6	A	C	7: 43,475,481 (GRCm39)	M1L	probably benign	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Larp7	A	T	3: 127,334,227 (GRCm39)	N533K	probably damaging	Het
Lrit3	T	C	3: 129,584,895 (GRCm39)	T288A	probably benign	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Lrp1b	T	C	2: 40,750,673 (GRCm39)	S2964G	probably damaging	Het
Lrrc66	C	T	5: 73,764,965 (GRCm39)	V693M	probably damaging	Het
Macf1	T	A	4: 123,364,958 (GRCm39)	M3268L	probably benign	Het
Mad1l1	A	G	5: 140,289,443 (GRCm39)	S161P	possibly damaging	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Morc3	A	G	16: 93,667,385 (GRCm39)	T588A	probably damaging	Het
Mospd3	A	G	5: 137,598,677 (GRCm39)	S21P	probably damaging	Het
Mrpl57	T	A	14: 58,064,186 (GRCm39)	F71L	probably damaging	Het
Mtbp	T	C	15: 55,470,111 (GRCm39)	L594S	probably damaging	Het
Mthfd2	T	C	6: 83,283,713 (GRCm39)	N323S	probably damaging	Het
Muc5b	G	T	7: 141,417,842 (GRCm39)	S3596I	possibly damaging	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncoa1	A	T	12: 4,389,049 (GRCm39)	D75E	possibly damaging	Het
Ncor1	A	C	11: 62,228,984 (GRCm39)	I958S	probably damaging	Het
Nefm	T	C	14: 68,361,563 (GRCm39)	S234G	probably benign	Het
Nlrp4c	T	C	7: 6,068,818 (GRCm39)	S240P	probably damaging	Het
Nox3	C	T	17: 3,720,292 (GRCm39)	V298M	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Nudt13	C	G	14: 20,360,709 (GRCm39)	T174R	probably damaging	Het
Odr4	T	A	1: 150,264,360 (GRCm39)		probably null	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or1l8	T	C	2: 36,817,197 (GRCm39)	I310V	probably benign	Het
Or2a52	T	A	6: 43,144,657 (GRCm39)		probably null	Het
Or4a72	A	T	2: 89,405,947 (GRCm39)	L41Q	possibly damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or5g25	T	C	2: 85,478,201 (GRCm39)	S155G	possibly damaging	Het
Or6c216	G	T	10: 129,678,375 (GRCm39)	P179T	probably benign	Het
Or6n2	T	C	1: 173,897,692 (GRCm39)	V276A	probably damaging	Het
Or8g4	T	C	9: 39,662,102 (GRCm39)	V140A	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Parp14	C	T	16: 35,673,888 (GRCm39)		probably null	Het
Pde3a	C	A	6: 141,444,496 (GRCm39)	N1101K	probably benign	Het
Plcb1	G	A	2: 134,655,533 (GRCm39)	V38I	possibly damaging	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Ppfibp2	C	T	7: 107,345,585 (GRCm39)	P869L	probably damaging	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Pramel5	G	A	4: 144,000,433 (GRCm39)	Q48*	probably null	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Psg22	T	A	7: 18,458,363 (GRCm39)	Y312*	probably null	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
Rasa4	A	G	5: 136,120,092 (GRCm39)	D56G	probably benign	Het
Rif1	T	A	2: 52,006,685 (GRCm39)	N2206K	possibly damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Sh3pxd2b	T	C	11: 32,373,559 (GRCm39)	*909Q	probably null	Het
Slc25a45	A	G	19: 5,934,550 (GRCm39)	R173G	probably damaging	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Smoc1	T	C	12: 81,151,445 (GRCm39)	I54T	probably benign	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Steap3	T	G	1: 120,169,464 (GRCm39)	I240L	probably benign	Het
Stmn4	C	T	14: 66,593,058 (GRCm39)	L13F	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Syt3	T	C	7: 44,039,940 (GRCm39)	S58P	possibly damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tbc1d19	T	A	5: 53,986,695 (GRCm39)	C35S	probably benign	Het
Tcaf3	T	C	6: 42,570,486 (GRCm39)	E422G	possibly damaging	Het
Tekt4	T	A	17: 25,690,832 (GRCm39)	F46Y	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Tyro3	T	C	2: 119,632,176 (GRCm39)	I81T	possibly damaging	Het
Upp2	T	G	2: 58,661,464 (GRCm39)	M71R	probably damaging	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vcl	T	A	14: 21,032,767 (GRCm39)	L122Q	probably damaging	Het
Vmn1r213	A	C	13: 23,196,476 (GRCm39)	N353T	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp869	T	C	8: 70,160,088 (GRCm39)	K162E	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
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
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'- ACCATTGATGTCTCCAGCG -3'
(R):5'- CCTCTAACAATGGGCTGTGTG -3'

Sequencing Primer
(F):5'- ATGTCTCCAGCGGCCCC -3'
(R):5'- GTGTGAGCATTAAACTCCATTCC -3'

Posted On

2014-06-30