Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Opn3'

30782

Institutional Source

Beutler Lab

Gene Symbol

Opn3

Ensembl Gene

ENSMUSG00000026525

Gene Name

opsin 3

Synonyms

panopsin, ERO, Ecpn, encephalopsin

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175489987-175520198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175491260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 258 (M258V)

Ref Sequence

ENSEMBL: ENSMUSP00000027809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027809] [ENSMUST00000040250] [ENSMUST00000097458] [ENSMUST00000140474]

AlphaFold

Q9WUK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027809
AA Change: M258V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027809
Gene: ENSMUSG00000026525
AA Change: M258V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140474

SMART Domains

Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	44	240	2.9e-10	PFAM

Meta Mutation Damage Score

0.2454

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	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
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
R5561:Opn3	UTSW	1	175,493,153 (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'- CTCTCCTTGTTACCCAGAGTGGAAAAG -3'
(R):5'- TCAGAAGTCAACCTCCTGTGGACC -3'

Sequencing Primer
(F):5'- TCTGTAATGCTGGAGCTTACC -3'
(R):5'- CTTTACTTTCCCGGAAGACAGG -3'

Posted On

2013-04-24