Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Opn4'

24997

Institutional Source

Beutler Lab

Gene Symbol

Opn4

Ensembl Gene

ENSMUSG00000021799

Gene Name

opsin 4 (melanopsin)

Synonyms

1110007J02Rik

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34312575-34322099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34319081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 168 (Y168C)

Ref Sequence

ENSEMBL: ENSMUSP00000126136 (fasta)

Gene Model

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

AlphaFold

Q9QXZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022331
AA Change: Y168C

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: Y168C

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

possibly damaging
Transcript: ENSMUST00000168444
AA Change: Y168C

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: Y168C

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

Meta Mutation Damage Score

0.4575

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm39)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,859,007 (GRCm39)		probably benign	Het
Abcc12	C	T	8: 87,284,381 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,311,646 (GRCm39)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,129,863 (GRCm39)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,508,954 (GRCm39)	M109L	probably benign	Het
Angpt2	T	C	8: 18,742,141 (GRCm39)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,820 (GRCm39)	D301E	probably benign	Het
Armc10	G	A	5: 21,852,295 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,365,773 (GRCm39)		probably null	Het
Atp5f1b	T	C	10: 127,921,908 (GRCm39)	V265A	probably benign	Het
Atp8b1	G	T	18: 64,678,315 (GRCm39)	C860*	probably null	Het
Atrnl1	T	G	19: 57,741,720 (GRCm39)	S1160A	probably benign	Het
Bmal1	A	T	7: 112,890,743 (GRCm39)	I179F	probably damaging	Het
Cep55	A	G	19: 38,048,659 (GRCm39)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,721,226 (GRCm39)	D2502Y	unknown	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clptm1l	A	G	13: 73,759,786 (GRCm39)	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,673,024 (GRCm39)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,766,432 (GRCm39)	I388F	probably damaging	Het
Dars1	C	T	1: 128,291,996 (GRCm39)	R494H	probably damaging	Het
Dna2	T	C	10: 62,792,753 (GRCm39)	V256A	probably damaging	Het
Dock7	T	C	4: 98,873,051 (GRCm39)	T1132A	probably benign	Het
Dpcd	T	G	19: 45,565,445 (GRCm39)	F140V	probably damaging	Het
Elk3	A	T	10: 93,101,067 (GRCm39)	M228K	probably benign	Het
Erich6	A	G	3: 58,543,525 (GRCm39)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,712,904 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,198,947 (GRCm39)		probably benign	Het
Fzd9	A	T	5: 135,278,260 (GRCm39)	C542S	probably damaging	Het
Gba1	A	G	3: 89,115,671 (GRCm39)	T460A	probably benign	Het
Gli2	C	T	1: 118,769,792 (GRCm39)	A587T	probably benign	Het
Gm11011	C	T	2: 169,424,614 (GRCm39)		probably benign	Het
Gmppb	A	G	9: 107,927,033 (GRCm39)	E68G	probably benign	Het
Gpld1	A	G	13: 25,146,818 (GRCm39)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,263,552 (GRCm39)	S900L	probably damaging	Het
Idi2l	T	G	13: 8,990,877 (GRCm39)		probably benign	Het
Ints6l	A	T	X: 55,526,715 (GRCm39)	M215L	possibly damaging	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,558,780 (GRCm39)	S373P	probably damaging	Het
Jak1	T	C	4: 101,011,732 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,815,734 (GRCm39)	V401D	possibly damaging	Het
Krbox5	A	G	13: 67,991,232 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,313,326 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,710,738 (GRCm39)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 46,959,766 (GRCm39)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm39)	A55T	probably benign	Het
Opa1	G	A	16: 29,440,349 (GRCm39)	R818Q	probably damaging	Het
Or8b35	A	G	9: 37,904,141 (GRCm39)	I118V	probably benign	Het
Phf21a	T	C	2: 92,161,122 (GRCm39)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,484,423 (GRCm39)		probably benign	Het
Plcb1	T	G	2: 134,655,534 (GRCm39)	V38G	probably benign	Het
Plxna4	T	A	6: 32,214,703 (GRCm39)	T593S	probably benign	Het
Poll	A	T	19: 45,544,404 (GRCm39)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,700,890 (GRCm39)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,486,686 (GRCm39)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,617,746 (GRCm39)		probably benign	Het
Sec14l4	G	A	11: 3,991,726 (GRCm39)		probably benign	Het
Sec23a	A	C	12: 59,053,985 (GRCm39)	Y4*	probably null	Het
Senp6	T	C	9: 80,040,265 (GRCm39)		probably null	Het
Serpinb6b	A	T	13: 33,162,220 (GRCm39)	N221Y	probably benign	Het
Slc6a2	A	G	8: 93,687,988 (GRCm39)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,888,423 (GRCm39)	L196I	probably damaging	Het
Sorbs2	C	T	8: 46,248,167 (GRCm39)	Q473*	probably null	Het
Sphkap	C	A	1: 83,254,690 (GRCm39)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,621,614 (GRCm39)	V225A	probably benign	Het
Srprb	G	A	9: 103,079,204 (GRCm39)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,545,187 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,139,306 (GRCm39)	I162N	probably benign	Het
Tmem237	C	A	1: 59,146,676 (GRCm39)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,983,011 (GRCm39)	F884L	probably damaging	Het
Trim7	A	G	11: 48,740,328 (GRCm39)	T142A	probably damaging	Het
Ttn	T	A	2: 76,616,024 (GRCm39)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,006,639 (GRCm39)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,978,774 (GRCm39)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,388,400 (GRCm39)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,843,697 (GRCm39)	D247G	probably damaging	Het
Usp43	G	A	11: 67,770,966 (GRCm39)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm39)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,830,113 (GRCm39)	E631K	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
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
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'- GTGAGCCCTCTGAATGTCCATCTG -3'
(R):5'- GGAAGGAGCTGAGTTTGTCCCATC -3'

Sequencing Primer
(F):5'- TGAGGCTGACAGTTCCCTAAC -3'
(R):5'- GAGTTTGTCCCATCCTCAGG -3'

Posted On

2013-04-16