Incidental Mutation 'R2035:Opn5'
ID224559
Institutional Source Beutler Lab
Gene Symbol Opn5
Ensembl Gene ENSMUSG00000043972
Gene Nameopsin 5
SynonymsGpr136, Neuropsin, TMEM13, PGR12
MMRRC Submission 040042-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #R2035 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location42556783-42611313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42607161 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 70 (I70T)
Ref Sequence ENSEMBL: ENSMUSP00000063542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068355]
Predicted Effect probably damaging
Transcript: ENSMUST00000068355
AA Change: I70T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: I70T

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.4e-41 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,612,642 *1273Q probably null Het
2810474O19Rik G A 6: 149,329,226 V1257I possibly damaging Het
Aars2 A G 17: 45,514,801 I348V possibly damaging Het
Abca8b G A 11: 109,957,106 R788C possibly damaging Het
Abhd15 T C 11: 77,515,710 L171P probably damaging Het
Abi3bp A T 16: 56,660,218 H686L probably benign Het
Acsl1 A G 8: 46,528,584 Y456C probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Ash1l T A 3: 89,066,317 V2561D probably benign Het
B3galnt2 T A 13: 13,966,324 F44I probably benign Het
Bicra A T 7: 15,996,413 H24Q possibly damaging Het
Ccdc163 T C 4: 116,711,333 S195P probably damaging Het
Cd163 A T 6: 124,320,629 K911N probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Dctn4 T A 18: 60,538,417 D120E possibly damaging Het
Dgcr14 A G 16: 17,910,086 probably null Het
Dnali1 C T 4: 125,059,110 V207M probably damaging Het
Dnhd1 A G 7: 105,704,921 Q3036R probably damaging Het
Dst G A 1: 34,271,413 R4098H probably damaging Het
Eml5 A T 12: 98,794,266 N1741K probably benign Het
Enah G A 1: 181,921,972 P415L probably damaging Het
F8 ATCTCTCTC ATCTCTC X: 75,322,998 probably null Het
Gm4841 T G 18: 60,269,857 Y388S probably benign Het
Grin3a T C 4: 49,771,336 T479A probably damaging Het
Gucy2e C A 11: 69,227,532 V743L probably benign Het
Il33 T A 19: 29,954,637 N143K probably damaging Het
Ism1 T A 2: 139,757,155 S349R probably damaging Het
Itgb2 T A 10: 77,547,199 D134E probably damaging Het
Kcnk1 A C 8: 126,025,369 N238T possibly damaging Het
Kcnu1 G T 8: 25,896,693 V535L probably benign Het
Muc19 T A 15: 91,892,405 noncoding transcript Het
Mycbp2 A T 14: 103,260,239 Y966N probably damaging Het
Myo19 A T 11: 84,897,608 M349L probably benign Het
Narf G A 11: 121,238,500 A37T probably benign Het
Ncapd2 T C 6: 125,184,528 N208D probably benign Het
Nr1i2 A G 16: 38,251,126 probably null Het
Olfr1354 T C 10: 78,917,587 V249A possibly damaging Het
Olfr596 T A 7: 103,310,256 H178Q probably damaging Het
Pkn2 G T 3: 142,820,587 P410T probably damaging Het
Pla2r1 T C 2: 60,422,736 N1337S probably damaging Het
Prkd3 A T 17: 78,975,373 probably null Het
Pum2 T A 12: 8,728,638 Y429* probably null Het
Rttn T A 18: 89,020,216 V812E probably damaging Het
Rufy2 T A 10: 63,006,747 L483H probably damaging Het
Sdccag3 T A 2: 26,383,627 S374C probably damaging Het
Slc35a3 T A 3: 116,687,323 Q97L probably damaging Het
St18 A T 1: 6,802,328 M96L probably benign Het
Strc G A 2: 121,374,934 A905V probably damaging Het
Syne3 T C 12: 104,958,127 M338V probably benign Het
Syngr2 A G 11: 117,813,360 D187G probably benign Het
Tas2r109 A C 6: 132,980,460 I169R probably benign Het
Tbc1d22a T A 15: 86,391,065 probably null Het
Thbs1 T A 2: 118,118,340 probably null Het
Them6 C A 15: 74,721,675 D127E probably damaging Het
Tmem132d T C 5: 127,792,458 D604G probably damaging Het
Tnni1 A G 1: 135,805,592 T51A probably benign Het
Topors T C 4: 40,262,879 N135S probably damaging Het
Unc80 A T 1: 66,606,593 D1476V probably damaging Het
Vmn1r17 A G 6: 57,360,588 V264A probably benign Het
Vmn1r193 T A 13: 22,219,562 T87S probably benign Het
Vmn1r202 C A 13: 22,501,602 R215L probably damaging Het
Vmn2r24 A T 6: 123,816,060 N782I probably damaging Het
Vmn2r53 A G 7: 12,598,511 F404L possibly damaging Het
Xpo4 A T 14: 57,585,926 C1036S possibly damaging Het
Yae1d1 T C 13: 17,989,721 N104D probably benign Het
Zan C A 5: 137,443,947 R1901L unknown Het
Zbtb9 G A 17: 26,974,923 R434H probably damaging Het
Zdhhc23 A C 16: 43,973,508 C268G probably damaging Het
Other mutations in Opn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Opn5 APN 17 42611228 missense probably damaging 1.00
IGL01372:Opn5 APN 17 42580544 splice site probably null
IGL01554:Opn5 APN 17 42607198 missense probably damaging 0.99
IGL02363:Opn5 APN 17 42557491 missense probably benign
IGL02421:Opn5 APN 17 42596555 splice site probably benign
IGL02720:Opn5 APN 17 42596626 missense probably damaging 1.00
K7371:Opn5 UTSW 17 42580631 missense probably damaging 1.00
R0063:Opn5 UTSW 17 42596626 missense probably damaging 1.00
R0220:Opn5 UTSW 17 42596604 missense probably benign 0.04
R0505:Opn5 UTSW 17 42592953 missense possibly damaging 0.88
R0971:Opn5 UTSW 17 42611327 unclassified probably null
R4723:Opn5 UTSW 17 42607200 missense probably damaging 1.00
R4830:Opn5 UTSW 17 42611296 missense probably benign 0.00
R4874:Opn5 UTSW 17 42580719 missense probably damaging 1.00
R4955:Opn5 UTSW 17 42611238 missense probably damaging 1.00
R5813:Opn5 UTSW 17 42593006 missense probably damaging 0.99
R5924:Opn5 UTSW 17 42611308 start codon destroyed probably null 0.95
R6478:Opn5 UTSW 17 42580749 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGTTAGCTGATCTCTTTAGCAGATG -3'
(R):5'- CATTACCCTCTAAATCCGTGGAG -3'

Sequencing Primer
(F):5'- AGCAGATGTTTTATTGACTGGCTAC -3'
(R):5'- CTCTAAATCCGTGGAGTTCATTG -3'
Posted On2014-08-25