Mutagenetix > Incidental Mutation

Incidental Mutation 'R3976:Opn4'

312657

Institutional Source

Beutler Lab

Gene Symbol

Opn4

Ensembl Gene

ENSMUSG00000021799

Gene Name

opsin 4 (melanopsin)

Synonyms

1110007J02Rik

MMRRC Submission

040842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34312575-34322099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34319066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 173 (R173H)

Ref Sequence

ENSEMBL: ENSMUSP00000126136 (fasta)

Gene Model

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

AlphaFold

Q9QXZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000022331
AA Change: R173H

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

SMART Domains

Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: R173H

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: R173H

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

SMART Domains

Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: R173H

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

0.0791

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Asb4	A	T	6: 5,390,771 (GRCm39)	M55L	probably benign	Het
Atxn7l1	T	C	12: 33,375,954 (GRCm39)	S10P	probably damaging	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Cyb5r3	A	G	15: 83,044,330 (GRCm39)	V180A	possibly damaging	Het
Dglucy	A	T	12: 100,807,648 (GRCm39)	T186S	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Fam90a1a	G	A	8: 22,451,432 (GRCm39)	D98N	probably damaging	Het
Fbxo16	T	A	14: 65,524,606 (GRCm39)	L42Q	probably damaging	Het
Fbxw16	A	G	9: 109,268,697 (GRCm39)	V231A	probably benign	Het
Fermt3	G	A	19: 6,979,792 (GRCm39)	A447V	possibly damaging	Het
Fignl2	A	G	15: 100,950,467 (GRCm39)	L605P	unknown	Het
Gcsam	T	G	16: 45,440,192 (GRCm39)	N78K	probably damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gm28042	C	T	2: 119,867,237 (GRCm39)	H218Y	probably benign	Het
Herpud2	A	G	9: 25,021,734 (GRCm39)	V304A	probably damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,903,530 (GRCm39)	D251G	probably benign	Het
Mapkbp1	T	C	2: 119,852,339 (GRCm39)	V957A	possibly damaging	Het
Mepe	C	T	5: 104,484,944 (GRCm39)	P28L	probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Or2k2	A	G	4: 58,785,164 (GRCm39)	L186P	probably damaging	Het
Or4f14	C	T	2: 111,742,951 (GRCm39)	G108D	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rab18	T	A	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rel	A	G	11: 23,692,939 (GRCm39)	S365P	probably benign	Het
Rhbg	C	A	3: 88,151,843 (GRCm39)	G383V	probably damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Runx2	T	C	17: 44,920,966 (GRCm39)	T339A	possibly damaging	Het
Ryr3	T	C	2: 112,506,182 (GRCm39)	E3455G	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Spg7	A	G	8: 123,806,187 (GRCm39)	D299G	probably damaging	Het
Sptbn5	C	T	2: 119,878,742 (GRCm39)		noncoding transcript	Het
Srcap	A	G	7: 127,148,411 (GRCm39)	T1859A	probably benign	Het
Suox	A	G	10: 128,506,906 (GRCm39)	V374A	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tubal3	C	T	13: 3,982,946 (GRCm39)	S242L	probably benign	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	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
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'- CTAGTGAGCCCTCTGAATGTC -3'
(R):5'- GAAGGAGCTGAGTTTGTCCC -3'

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

Posted On

2015-04-30