Mutagenetix > Incidental Mutation

Incidental Mutation 'R4955:Opn5'

381552

Institutional Source

Beutler Lab

Gene Symbol

Opn5

Ensembl Gene

ENSMUSG00000043972

Gene Name

opsin 5

Synonyms

TMEM13, Gpr136, Neuropsin, PGR12

MMRRC Submission

042552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R4955 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42867674-42922286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42922129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 24 (F24L)

Ref Sequence

ENSEMBL: ENSMUSP00000063542 (fasta)

Gene Model

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

AlphaFold

Q6VZZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000068355
AA Change: F24L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: F24L

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

Meta Mutation Damage Score

0.3306

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (50/50)

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 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4933407L21Rik	T	A	1: 85,859,008 (GRCm39)		probably benign	Het
Abca8a	T	G	11: 109,927,338 (GRCm39)	E1338D	probably benign	Het
Arl2bp	G	A	8: 95,397,056 (GRCm39)		probably null	Het
Arsj	T	C	3: 126,232,189 (GRCm39)	Y312H	probably benign	Het
Atp8b2	G	T	3: 89,860,227 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,912,528 (GRCm39)	V594A	probably damaging	Het
Cfap44	T	A	16: 44,295,640 (GRCm39)	V1646E	possibly damaging	Het
Csmd3	A	T	15: 48,536,914 (GRCm39)	I96K	probably damaging	Het
Fbn2	T	C	18: 58,191,455 (GRCm39)	Q1556R	possibly damaging	Het
Fstl5	T	A	3: 76,131,183 (GRCm39)		probably null	Het
H4c9	T	A	13: 22,225,355 (GRCm39)	I47F	probably damaging	Het
Hivep2	T	A	10: 14,006,702 (GRCm39)	M1100K	probably benign	Het
Ing4	C	T	6: 125,025,164 (GRCm39)	A225V	probably damaging	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Khdrbs2	T	A	1: 32,559,158 (GRCm39)		probably benign	Het
Kif21a	A	T	15: 90,821,393 (GRCm39)	W1566R	probably damaging	Het
Lrfn5	A	C	12: 61,886,764 (GRCm39)	D184A	probably benign	Het
Mettl2	C	T	11: 105,028,605 (GRCm39)	T319I	possibly damaging	Het
Mgrn1	T	C	16: 4,752,083 (GRCm39)	V529A	probably benign	Het
Naca	T	A	10: 127,878,084 (GRCm39)		probably benign	Het
Ninj2	A	G	6: 120,174,907 (GRCm39)	N26S	probably damaging	Het
Nqo1	A	G	8: 108,115,489 (GRCm39)	S263P	probably benign	Het
Obscn	T	C	11: 58,959,998 (GRCm39)	T3566A	probably benign	Het
Or14j8	T	C	17: 38,263,789 (GRCm39)	N42S	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4k41	A	T	2: 111,279,950 (GRCm39)	H155L	probably damaging	Het
Or52a20	A	T	7: 103,365,912 (GRCm39)	Y37F	probably benign	Het
Palmd	A	G	3: 116,717,873 (GRCm39)	V208A	probably damaging	Het
Plekhd1	T	A	12: 80,768,795 (GRCm39)	I426N	possibly damaging	Het
Polq	T	G	16: 36,881,444 (GRCm39)	Y1203D	probably benign	Het
Prex1	A	G	2: 166,415,143 (GRCm39)	F251S	probably damaging	Het
Prkd3	T	C	17: 79,260,156 (GRCm39)	M816V	probably null	Het
Rab3gap2	C	T	1: 184,999,352 (GRCm39)		probably benign	Het
Rcan2	C	A	17: 44,347,972 (GRCm39)	P13Q	probably damaging	Het
Slc35b3	A	G	13: 39,116,866 (GRCm39)	V329A	probably benign	Het
Slc5a1	T	C	5: 33,318,246 (GRCm39)	M633T	probably benign	Het
Stac2	A	C	11: 97,934,374 (GRCm39)	L110R	possibly damaging	Het
Styxl2	T	C	1: 165,935,661 (GRCm39)	Y179C	probably damaging	Het
Tecpr1	T	C	5: 144,154,075 (GRCm39)	E126G	probably damaging	Het
Ttll6	A	G	11: 96,029,615 (GRCm39)	D176G	possibly damaging	Het
Utrn	C	T	10: 12,737,311 (GRCm39)		probably null	Het
Zfp341	T	C	2: 154,479,950 (GRCm39)	V467A	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
R4830:Opn5	UTSW	17	42,922,187 (GRCm39)	missense	probably benign	0.00
R4874:Opn5	UTSW	17	42,891,610 (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'- GTCACAATGCCAATTCACCTTC -3'
(R):5'- TACCAATCACCTGTGGGACC -3'

Sequencing Primer
(F):5'- AATGCCAATTCACCTTCTCCAC -3'
(R):5'- TGGGACCCTGGAGTTTGCC -3'

Posted On

2016-04-27