Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Opn4'

669908

Institutional Source

Beutler Lab

Gene Symbol

Opn4

Ensembl Gene

ENSMUSG00000021799

Gene Name

opsin 4 (melanopsin)

Synonyms

1110007J02Rik

MMRRC Submission

068569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34312575-34322099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34315819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 405 (R405S)

Ref Sequence

ENSEMBL: ENSMUSP00000022331 (fasta)

Gene Model

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

AlphaFold

Q9QXZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000022331
AA Change: R405S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: R405S

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
AA Change: R405S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: R405S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

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. 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Abce1	A	T	8: 80,427,784 (GRCm39)	I168N	possibly damaging	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,577,673 (GRCm39)	L1761*	probably null	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Exoc2	T	A	13: 31,095,227 (GRCm39)	H223L	probably damaging	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Or10q12	T	C	19: 13,746,185 (GRCm39)	S160P	probably damaging	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ppp1r12a	G	A	10: 108,096,749 (GRCm39)	R713H	probably damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	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
R0586:Opn4	UTSW	14	34,320,930 (GRCm39)	splice site	probably benign
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
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'- TGCTGGGTAACTTCAGACCAC -3'
(R):5'- TGTCTGTCTGAGCCCATCAC -3'

Sequencing Primer
(F):5'- TGGGTAACTTCAGACCACTCACC -3'
(R):5'- TGTCTGAGCCCATCACCAGTG -3'

Posted On

2021-04-30