Mutagenetix > Incidental Mutation

Incidental Mutation 'R5561:Opn3'

436574

Institutional Source

Beutler Lab

Gene Symbol

Opn3

Ensembl Gene

ENSMUSG00000026525

Gene Name

opsin 3

Synonyms

panopsin, ERO, Ecpn, encephalopsin

MMRRC Submission

043118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175489987-175520198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 175493153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 137 (R137H)

Ref Sequence

ENSEMBL: ENSMUSP00000027809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027809] [ENSMUST00000040250] [ENSMUST00000097458]

AlphaFold

Q9WUK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027809
AA Change: R137H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027809
Gene: ENSMUSG00000026525
AA Change: R137H

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
Pfam:7tm_1	56	307	4.7e-36	PFAM
low complexity region	314	331	N/A	INTRINSIC
low complexity region	363	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040250

SMART Domains

Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	9	328	5.6e-22	PFAM
Pfam:NAD_binding_8	13	63	2.2e-7	PFAM
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097458

SMART Domains

Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	9	328	5.8e-22	PFAM
Pfam:NAD_binding_8	13	63	2.1e-7	PFAM
transmembrane domain	391	413	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice exhibit normal photoentrainment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	C	1: 75,197,181 (GRCm39)		probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgrv1	A	G	13: 81,624,683 (GRCm39)	L3762P	probably damaging	Het
Amn1	G	A	6: 149,086,522 (GRCm39)	R4W	probably damaging	Het
Atxn1	G	T	13: 45,720,347 (GRCm39)	T516N	possibly damaging	Het
Atxn7	A	T	14: 14,089,260 (GRCm38)	T259S	probably benign	Het
Bsn	C	G	9: 107,982,710 (GRCm39)	R3681P	unknown	Het
C8b	T	C	4: 104,641,645 (GRCm39)	Y194H	possibly damaging	Het
Ccdc110	T	G	8: 46,393,646 (GRCm39)	S119R	probably benign	Het
Ccdc202	C	A	14: 96,119,807 (GRCm39)	A188E	probably benign	Het
Ceacam20	A	T	7: 19,704,318 (GRCm39)	Q123L	possibly damaging	Het
Clip3	A	G	7: 29,998,274 (GRCm39)	D240G	possibly damaging	Het
Col24a1	T	C	3: 145,004,588 (GRCm39)	F22S	probably benign	Het
Dlg5	T	A	14: 24,227,860 (GRCm39)	M354L	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,967,847 (GRCm38)	V282A	probably damaging	Het
Dnhd1	G	A	7: 105,364,028 (GRCm39)	G4127S	probably damaging	Het
Eed	G	A	7: 89,617,001 (GRCm39)	R165W	probably damaging	Het
Ephb2	C	T	4: 136,388,717 (GRCm39)	V627M	probably damaging	Het
Fancc	T	C	13: 63,465,201 (GRCm39)	E502G	possibly damaging	Het
Fbf1	T	C	11: 116,048,646 (GRCm39)	D105G	probably damaging	Het
Fer	T	A	17: 64,344,580 (GRCm39)	Y246*	probably null	Het
Fer1l6	A	G	15: 58,532,674 (GRCm39)	K1792E	probably damaging	Het
Foxi2	A	G	7: 135,013,376 (GRCm39)	D202G	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
H2-DMb2	G	T	17: 34,364,445 (GRCm39)		probably null	Het
Helq	G	T	5: 100,934,916 (GRCm39)	D491E	probably benign	Het
Hgsnat	A	G	8: 26,436,362 (GRCm39)	V564A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,709,425 (GRCm39)	V320D	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,197 (GRCm39)	L420*	probably null	Het
Ift80	T	G	3: 68,875,196 (GRCm39)	N178T	probably benign	Het
Ing4	C	T	6: 125,024,023 (GRCm39)	T89I	possibly damaging	Het
Lcp1	G	A	14: 75,449,948 (GRCm39)	D386N	probably benign	Het
Mdc1	T	A	17: 36,159,438 (GRCm39)	I606K	probably benign	Het
Mllt10	T	A	2: 18,114,656 (GRCm39)	M120K	probably damaging	Het
Morc1	G	T	16: 48,269,711 (GRCm39)	L89F	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nav3	C	A	10: 109,552,413 (GRCm39)	D1810Y	probably damaging	Het
Obscn	G	A	11: 58,926,919 (GRCm39)	T5532M	probably damaging	Het
Or12j2	C	T	7: 139,916,065 (GRCm39)	Q97*	probably null	Het
Or2d36	A	G	7: 106,747,297 (GRCm39)	N258S	probably benign	Het
Palld	G	A	8: 61,969,619 (GRCm39)	A993V	probably damaging	Het
Ppp1r12c	A	T	7: 4,489,355 (GRCm39)		probably null	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Rapgef2	A	T	3: 78,995,950 (GRCm39)		probably null	Het
Ring1	T	C	17: 34,240,432 (GRCm39)	E382G	possibly damaging	Het
Rpl22l1	T	A	3: 28,860,969 (GRCm39)	N61K	probably benign	Het
Rpp14	A	G	14: 8,090,558 (GRCm38)		probably null	Het
Rusc2	C	T	4: 43,415,932 (GRCm39)	Q413*	probably null	Het
Slco3a1	A	G	7: 73,968,247 (GRCm39)	I491T	possibly damaging	Het
Smtnl1	C	T	2: 84,648,739 (GRCm39)	V172I	probably benign	Het
Spats2l	T	A	1: 57,939,780 (GRCm39)		probably null	Het
Spire1	T	A	18: 67,639,716 (GRCm39)	N266Y	probably damaging	Het
Stox2	T	C	8: 47,646,041 (GRCm39)	H473R	probably damaging	Het
Syne2	C	T	12: 76,141,232 (GRCm39)	R121*	probably null	Het
Synrg	G	A	11: 83,893,066 (GRCm39)		probably null	Het
Tm9sf1	C	T	14: 55,875,554 (GRCm39)	V397M	probably damaging	Het
Trabd	T	C	15: 88,966,187 (GRCm39)	M48T	probably benign	Het
Ttn	T	A	2: 76,537,577 (GRCm39)	I26457F	possibly damaging	Het
Uggt2	C	T	14: 119,278,939 (GRCm39)	R856Q	probably benign	Het
Ugt1a5	T	A	1: 88,094,039 (GRCm39)	M89K	probably benign	Het
Vmn2r53	A	T	7: 12,335,347 (GRCm39)	S104R	probably damaging	Het
Zdhhc12	A	T	2: 29,982,496 (GRCm39)	L53Q	probably null	Het

Other mutations in Opn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0349:Opn3	UTSW	1	175,519,870 (GRCm39)	missense	probably damaging	1.00
R0377:Opn3	UTSW	1	175,491,260 (GRCm39)	missense	probably damaging	1.00
R2040:Opn3	UTSW	1	175,491,145 (GRCm39)	missense	possibly damaging	0.73
R2351:Opn3	UTSW	1	175,520,077 (GRCm39)	missense	probably benign
R4868:Opn3	UTSW	1	175,491,127 (GRCm39)	missense	probably damaging	1.00
R6232:Opn3	UTSW	1	175,490,669 (GRCm39)	missense	probably damaging	0.99
R6848:Opn3	UTSW	1	175,490,615 (GRCm39)	missense	probably damaging	1.00
R7275:Opn3	UTSW	1	175,493,039 (GRCm39)	missense	probably damaging	1.00
R7522:Opn3	UTSW	1	175,493,189 (GRCm39)	missense	probably benign	0.08
R7774:Opn3	UTSW	1	175,490,471 (GRCm39)	missense	probably damaging	0.99
R8081:Opn3	UTSW	1	175,493,135 (GRCm39)	missense	probably damaging	0.96
R9205:Opn3	UTSW	1	175,490,655 (GRCm39)	missense	probably benign	0.05
Z1177:Opn3	UTSW	1	175,520,229 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTTGGCATCCTTGGATCTC -3'
(R):5'- TTTGACCTACAATCCATGTGCC -3'

Sequencing Primer
(F):5'- GATCTCCAGTCCACGGTACAG -3'
(R):5'- CCTAATTGATTTTCCTGGGGAGCC -3'

Posted On

2016-10-24