Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Opn5'

372768

Institutional Source

Beutler Lab

Gene Symbol

Opn5

Ensembl Gene

ENSMUSG00000043972

Gene Name

opsin 5

Synonyms

TMEM13, Gpr136, Neuropsin, PGR12

MMRRC Submission

042446-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R4830 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42867674-42922286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42922187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 5 (H5R)

Ref Sequence

ENSEMBL: ENSMUSP00000063542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068355]

AlphaFold

Q6VZZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000068355
AA Change: H5R

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

SMART Domains

Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: H5R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	50	306	3.4e-41	PFAM

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

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 opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit light/dark entrainment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,553,933 (GRCm39)	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,274,619 (GRCm39)	E1225G	probably damaging	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Ankle2	A	C	5: 110,389,879 (GRCm39)	K446Q	probably damaging	Het
Boc	A	C	16: 44,310,520 (GRCm39)	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,441,332 (GRCm39)	N645K	probably damaging	Het
Cd93	G	A	2: 148,285,299 (GRCm39)	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,600,328 (GRCm39)		probably benign	Het
Cuzd1	T	A	7: 130,919,783 (GRCm39)	D111V	probably damaging	Het
Dab2	T	C	15: 6,457,008 (GRCm39)	C232R	probably benign	Het
Dmpk	A	T	7: 18,821,453 (GRCm39)	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,021,745 (GRCm39)	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,223,767 (GRCm39)		probably null	Het
Dsp	G	A	13: 38,376,840 (GRCm39)	V1542I	probably benign	Het
Dst	T	A	1: 34,237,586 (GRCm39)		probably null	Het
Esd	T	C	14: 74,978,600 (GRCm39)	L54S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Gm3604	A	T	13: 62,516,857 (GRCm39)	N500K	probably damaging	Het
Grhl2	T	A	15: 37,335,903 (GRCm39)		probably null	Het
Gsto1	C	T	19: 47,852,830 (GRCm39)	R222C	probably benign	Het
Inpp4a	T	A	1: 37,410,861 (GRCm39)	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,090,280 (GRCm39)	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,700,208 (GRCm39)	T450I	probably benign	Het
Kdm6b	A	T	11: 69,294,620 (GRCm39)	I1186N	unknown	Het
Kif1a	T	C	1: 92,948,931 (GRCm39)		probably null	Het
Klhl20	T	C	1: 160,925,946 (GRCm39)	K434R	probably benign	Het
Lemd3	T	C	10: 120,767,853 (GRCm39)	D697G	probably damaging	Het
Lipo3	A	G	19: 33,753,987 (GRCm39)	S383P	probably damaging	Het
Ltn1	C	A	16: 87,176,582 (GRCm39)	K1741N	probably damaging	Het
Lvrn	A	T	18: 47,038,418 (GRCm39)	T991S	probably damaging	Het
Macroh2a2	C	T	10: 61,575,132 (GRCm39)	D355N	possibly damaging	Het
Mast3	C	A	8: 71,241,559 (GRCm39)	R151L	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	G	T	2: 52,082,532 (GRCm39)	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,522,120 (GRCm39)	N639I	probably damaging	Het
Nlrp4e	A	T	7: 23,036,165 (GRCm39)	N673Y	probably benign	Het
Nop53	C	T	7: 15,676,129 (GRCm39)	R190Q	probably damaging	Het
Notch4	T	C	17: 34,789,092 (GRCm39)	Y468H	probably damaging	Het
Obscn	T	C	11: 58,958,433 (GRCm39)	T3507A	probably damaging	Het
Or4l15	T	C	14: 50,197,681 (GRCm39)	N283D	probably damaging	Het
Patl1	T	C	19: 11,902,515 (GRCm39)	M349T	probably benign	Het
Phactr3	A	G	2: 177,925,811 (GRCm39)	N362S	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Rapgef5	G	A	12: 117,719,809 (GRCm39)	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,430,081 (GRCm39)	D234G	probably benign	Het
Serpinb3a	C	T	1: 106,976,316 (GRCm39)	E122K	probably benign	Het
Slc22a15	T	C	3: 101,782,919 (GRCm39)		probably benign	Het
Slc25a12	A	T	2: 71,127,149 (GRCm39)	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,434,119 (GRCm39)	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,470,736 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,226,445 (GRCm39)	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,257,585 (GRCm39)	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,937 (GRCm39)	T472A	probably benign	Het
Trf	T	A	9: 103,105,114 (GRCm39)	D66V	probably damaging	Het
Vmn1r124	A	G	7: 20,993,624 (GRCm39)	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,370 (GRCm39)	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,244,584 (GRCm39)	S358R	probably damaging	Het

Other mutations in Opn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Opn5	APN	17	42,922,119 (GRCm39)	missense	probably damaging	1.00
IGL01372:Opn5	APN	17	42,891,435 (GRCm39)	splice site	probably null
IGL01554:Opn5	APN	17	42,918,089 (GRCm39)	missense	probably damaging	0.99
IGL02363:Opn5	APN	17	42,868,382 (GRCm39)	missense	probably benign
IGL02421:Opn5	APN	17	42,907,446 (GRCm39)	splice site	probably benign
IGL02720:Opn5	APN	17	42,907,517 (GRCm39)	missense	probably damaging	1.00
K7371:Opn5	UTSW	17	42,891,522 (GRCm39)	missense	probably damaging	1.00
R0063:Opn5	UTSW	17	42,907,517 (GRCm39)	missense	probably damaging	1.00
R0220:Opn5	UTSW	17	42,907,495 (GRCm39)	missense	probably benign	0.04
R0505:Opn5	UTSW	17	42,903,844 (GRCm39)	missense	possibly damaging	0.88
R0971:Opn5	UTSW	17	42,922,218 (GRCm39)	splice site	probably null
R2035:Opn5	UTSW	17	42,918,052 (GRCm39)	missense	probably damaging	0.97
R4723:Opn5	UTSW	17	42,918,091 (GRCm39)	missense	probably damaging	1.00
R4874:Opn5	UTSW	17	42,891,610 (GRCm39)	missense	probably damaging	1.00
R4955:Opn5	UTSW	17	42,922,129 (GRCm39)	missense	probably damaging	1.00
R5813:Opn5	UTSW	17	42,903,897 (GRCm39)	missense	probably damaging	0.99
R5924:Opn5	UTSW	17	42,922,199 (GRCm39)	start codon destroyed	probably null	0.95
R6478:Opn5	UTSW	17	42,891,640 (GRCm39)	missense	probably benign	0.06
R7831:Opn5	UTSW	17	42,891,510 (GRCm39)	missense	probably null	0.85
R9182:Opn5	UTSW	17	42,903,890 (GRCm39)	missense	probably damaging	1.00
R9267:Opn5	UTSW	17	42,903,793 (GRCm39)	missense	probably damaging	1.00
R9802:Opn5	UTSW	17	42,903,582 (GRCm39)	missense	possibly damaging	0.87
Z1177:Opn5	UTSW	17	42,907,490 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGTCACAATGCCAATTCAC -3'
(R):5'- CGGTGAACATCTCTCCACTAGG -3'

Sequencing Primer
(F):5'- TGCTAATACCCACGTACTTATCAG -3'
(R):5'- TAGGTACCAATCACCTGTGGGAC -3'

Posted On

2016-03-01