Mutagenetix > Incidental Mutation

Incidental Mutation 'R7065:Opn4'

548538

Institutional Source

Beutler Lab

Gene Symbol

Opn4

Ensembl Gene

ENSMUSG00000021799

Gene Name

opsin 4 (melanopsin)

Synonyms

1110007J02Rik

MMRRC Submission

045161-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34312575-34322099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34317834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 267 (A267S)

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: A267S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: A267S

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: A267S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: A267S

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,074,233 (GRCm39)	S1150Y	probably damaging	Het
Abca13	T	A	11: 9,242,595 (GRCm39)	V1486E	probably benign	Het
Abca17	T	A	17: 24,546,725 (GRCm39)	Y292F	probably damaging	Het
Adam3	A	G	8: 25,201,691 (GRCm39)		probably null	Het
Ankmy2	G	A	12: 36,237,707 (GRCm39)	E269K	probably damaging	Het
Cdan1	A	G	2: 120,549,402 (GRCm39)	S1201P	probably benign	Het
Cep57	T	C	9: 13,729,677 (GRCm39)	Y122C	probably damaging	Het
Cfh	T	A	1: 140,014,140 (GRCm39)	Y1210F	probably damaging	Het
Cflar	T	G	1: 58,770,368 (GRCm39)	L154V	probably damaging	Het
Chmp4b	A	G	2: 154,533,162 (GRCm39)	D134G	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Ctnna1	A	T	18: 35,285,669 (GRCm39)	H5L	probably benign	Het
Cyp2e1	T	A	7: 140,343,906 (GRCm39)	L48Q	probably damaging	Het
Dnah6	T	G	6: 73,064,545 (GRCm39)	Q2627P	possibly damaging	Het
Ehmt1	T	C	2: 24,730,709 (GRCm39)	D569G	probably damaging	Het
Frmd4a	G	A	2: 4,570,923 (GRCm39)			Het
Fryl	T	C	5: 73,248,099 (GRCm39)	D1006G	probably damaging	Het
Gclm	A	G	3: 122,056,320 (GRCm39)	N137D	probably benign	Het
Gk5	A	G	9: 96,061,109 (GRCm39)	Y531C	probably damaging	Het
Gpm6a	C	A	8: 55,490,493 (GRCm39)	N56K	probably benign	Het
Grik4	A	C	9: 42,455,127 (GRCm39)	V656G	probably damaging	Het
Grip2	C	A	6: 91,760,550 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,697,764 (GRCm39)	K636E	probably damaging	Het
Ifi44l	A	G	3: 151,465,429 (GRCm39)	I107T		Het
Kif1b	T	C	4: 149,286,982 (GRCm39)	T1237A	possibly damaging	Het
Klk1b11	A	G	7: 43,648,386 (GRCm39)	D131G	probably benign	Het
Lipe	A	G	7: 25,084,603 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Madd	A	T	2: 90,985,402 (GRCm39)	M1273K	probably benign	Het
Matn3	T	A	12: 9,002,472 (GRCm39)	M228K	probably damaging	Het
Mterf4	T	A	1: 93,232,617 (GRCm39)	H78L	probably benign	Het
Ncoa4	T	A	14: 31,894,857 (GRCm39)	L128*	probably null	Het
Nedd4l	A	G	18: 65,329,040 (GRCm39)	N627S	probably benign	Het
Niban1	A	G	1: 151,575,858 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,919,189 (GRCm39)	Y1279C	probably damaging	Het
Nrp1	C	A	8: 129,187,193 (GRCm39)	T413N	probably benign	Het
Or4c11c	A	T	2: 88,661,730 (GRCm39)	I90F	probably damaging	Het
Or5ak24	A	G	2: 85,260,523 (GRCm39)	Y217H	probably damaging	Het
Or5al6	A	C	2: 85,976,345 (GRCm39)	H244Q	probably damaging	Het
Or5p78	G	A	7: 108,212,266 (GRCm39)	V251I	probably damaging	Het
Pax3	T	C	1: 78,170,648 (GRCm39)		probably null	Het
Pcdha12	A	G	18: 37,154,679 (GRCm39)	E466G	probably damaging	Het
Pdzk1	A	G	3: 96,775,748 (GRCm39)	E372G	probably benign	Het
Pigs	T	A	11: 78,227,565 (GRCm39)	V243D	possibly damaging	Het
Pla2g5	C	A	4: 138,527,915 (GRCm39)	C117F	probably damaging	Het
Ppt2	A	G	17: 34,841,829 (GRCm39)	S236P	probably damaging	Het
Raver1	T	C	9: 21,001,590 (GRCm39)	D81G	probably benign	Het
Rpgrip1	T	C	14: 52,378,650 (GRCm39)	L525P	possibly damaging	Het
Ryr1	T	C	7: 28,803,068 (GRCm39)	E662G	probably damaging	Het
Scaf8	G	A	17: 3,209,486 (GRCm39)	V66M	probably damaging	Het
Scn3a	A	C	2: 65,295,199 (GRCm39)	L1508R	probably benign	Het
Semp2l2b	T	C	10: 21,943,197 (GRCm39)	D261G	probably benign	Het
Slfn8	T	C	11: 82,907,794 (GRCm39)	R250G	probably benign	Het
Speer4d	A	C	5: 15,825,421 (GRCm39)	T49P	probably damaging	Het
Spice1	T	A	16: 44,175,898 (GRCm39)	D32E	probably damaging	Het
Stt3b	A	G	9: 115,095,224 (GRCm39)	L269P	probably damaging	Het
Ttn	A	G	2: 76,628,456 (GRCm39)	I14568T	possibly damaging	Het
U2surp	T	C	9: 95,367,712 (GRCm39)	T413A	probably benign	Het
Ubr3	A	G	2: 69,784,049 (GRCm39)	E755G	probably damaging	Het
Unc5a	A	T	13: 55,138,896 (GRCm39)	S92C	probably damaging	Het
Zfat	T	C	15: 68,052,969 (GRCm39)	Y275C	probably damaging	Het
Zfp874a	A	T	13: 67,590,401 (GRCm39)	S428T	probably damaging	Het
Zfy1	A	G	Y: 725,428 (GRCm39)	V779A	probably benign	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
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'- TGCTTTAGCCCTCGTACAGC -3'
(R):5'- TTAGAGACTGCAATCCCGGC -3'

Sequencing Primer
(F):5'- TTAGCCCTCGTACAGCGTACAG -3'
(R):5'- TGCAATCCCGGCAGAAC -3'

Posted On

2019-05-13