Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Opn4'

55782

Institutional Source

Beutler Lab

Gene Symbol

Opn4

Ensembl Gene

ENSMUSG00000021799

Gene Name

opsin 4 (melanopsin)

Synonyms

1110007J02Rik

MMRRC Submission

038776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0586 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

34312575-34322099 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 34320930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022331] [ENSMUST00000168444]

AlphaFold

Q9QXZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000022331

SMART Domains

Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	77	324	6.9e-10	PFAM
Pfam:7TM_GPCR_Srsx	80	362	8.3e-13	PFAM
Pfam:7tm_1	86	347	2.9e-58	PFAM
Pfam:7TM_GPCR_Srv	108	362	1.5e-6	PFAM
low complexity region	383	401	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168444

SMART Domains

Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	77	324	1.1e-9	PFAM
Pfam:7TM_GPCR_Srsx	80	362	6.1e-13	PFAM
Pfam:7tm_1	86	347	2.6e-64	PFAM
Pfam:7TM_GPCR_Srv	108	362	1.2e-6	PFAM
low complexity region	383	401	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226451

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

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. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in absent intrinsic inner retinal photosensitivity, abnormal pupillary reflex, and abnormal circadian rhythms. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Pogz	C	T	3: 94,786,664 (GRCm39)	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,411,719 (GRCm39)	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Skint8	C	G	4: 111,794,126 (GRCm39)	P172R	probably damaging	Het
Slc12a8	T	G	16: 33,478,600 (GRCm39)	M643R	possibly damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,640,321 (GRCm39)	L272P	probably damaging	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpm2	T	A	10: 77,759,350 (GRCm39)	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	Het

Other mutations in Opn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:Opn4	APN	14	34,319,166 (GRCm39)	splice site	probably benign
IGL02628:Opn4	APN	14	34,315,014 (GRCm39)	missense	probably benign	0.15
purge	UTSW	14	34,318,986 (GRCm39)	missense	probably damaging	1.00
R0308:Opn4	UTSW	14	34,319,081 (GRCm39)	missense	possibly damaging	0.79
R2022:Opn4	UTSW	14	34,319,028 (GRCm39)	missense	probably benign	0.25
R2860:Opn4	UTSW	14	34,315,785 (GRCm39)	critical splice donor site	probably null
R2861:Opn4	UTSW	14	34,315,785 (GRCm39)	critical splice donor site	probably null
R2862:Opn4	UTSW	14	34,315,785 (GRCm39)	critical splice donor site	probably null
R3976:Opn4	UTSW	14	34,319,066 (GRCm39)	missense	probably benign	0.12
R4007:Opn4	UTSW	14	34,321,789 (GRCm39)	missense	probably benign	0.41
R4837:Opn4	UTSW	14	34,318,261 (GRCm39)	missense	probably damaging	1.00
R5287:Opn4	UTSW	14	34,314,894 (GRCm39)	missense	probably benign	0.01
R5403:Opn4	UTSW	14	34,314,894 (GRCm39)	missense	probably benign	0.01
R6252:Opn4	UTSW	14	34,316,788 (GRCm39)	missense	probably benign	0.22
R6991:Opn4	UTSW	14	34,315,864 (GRCm39)	missense	probably benign	0.38
R7065:Opn4	UTSW	14	34,317,834 (GRCm39)	missense	probably benign	0.06
R7761:Opn4	UTSW	14	34,320,809 (GRCm39)	missense	probably benign	0.00
R8716:Opn4	UTSW	14	34,315,819 (GRCm39)	missense	probably benign	0.28
R8849:Opn4	UTSW	14	34,318,986 (GRCm39)	missense	probably damaging	1.00
R8922:Opn4	UTSW	14	34,314,955 (GRCm39)	missense	probably benign	0.00
Z1177:Opn4	UTSW	14	34,321,795 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GTGTAGATGACCGTCAGATTGCCC -3'
(R):5'- CTTAAGGTCACCCAAGCTGTGCTC -3'

Sequencing Primer
(F):5'- GTCAGATTGCCCAGCATCC -3'
(R):5'- AGGCACGCATTTGTCCTG -3'

Posted On

2013-07-11