Incidental Mutation 'IGL02720:Opn5'
ID304973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Opn5
Ensembl Gene ENSMUSG00000043972
Gene Nameopsin 5
SynonymsGpr136, Neuropsin, TMEM13, PGR12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL02720
Quality Score
Status
Chromosome17
Chromosomal Location42556783-42611313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 42596626 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 120 (S120R)
Ref Sequence ENSEMBL: ENSMUSP00000063542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068355]
Predicted Effect probably damaging
Transcript: ENSMUST00000068355
AA Change: S120R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: S120R

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.4e-41 PFAM
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,122,703 probably benign Het
Adgrv1 A G 13: 81,578,872 S454P probably damaging Het
Adh4 A T 3: 138,419,220 I51F possibly damaging Het
Amigo2 A T 15: 97,245,697 C281* probably null Het
Btn2a2 C T 13: 23,480,467 R307Q probably benign Het
C2cd6 T C 1: 59,051,148 I483M probably damaging Het
Capn9 T C 8: 124,600,497 probably benign Het
Carmil3 A G 14: 55,507,410 K1279E probably damaging Het
Cdadc1 T C 14: 59,586,047 Y332C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep112 T G 11: 108,859,351 F893L probably damaging Het
Cit A G 5: 115,995,452 S1867G probably benign Het
Clptm1l T C 13: 73,614,602 probably benign Het
Cyp4a12b A T 4: 115,435,171 probably benign Het
Dlx3 G T 11: 95,123,644 W251L possibly damaging Het
Dnah1 C T 14: 31,262,220 V3993M probably damaging Het
Efs A T 14: 54,919,715 Y380N probably damaging Het
Fam53c T A 18: 34,770,667 W331R probably damaging Het
Gm5414 T C 15: 101,625,555 E331G probably damaging Het
Gstcd A G 3: 133,071,961 V363A probably benign Het
Jak1 A G 4: 101,164,450 probably benign Het
Kifc3 A G 8: 95,108,365 V264A probably benign Het
Mapk8ip2 A G 15: 89,457,582 D332G probably damaging Het
Nbeal1 G A 1: 60,283,987 E2075K probably damaging Het
Olfr553 C T 7: 102,614,839 G50E probably damaging Het
Paqr8 C T 1: 20,935,509 Q296* probably null Het
Pcsk6 C T 7: 65,980,247 R374* probably null Het
Pld1 A G 3: 28,087,262 H469R probably damaging Het
Rbl1 A G 2: 157,199,429 S93P possibly damaging Het
Reln C T 5: 21,997,941 R1287Q probably damaging Het
Rev3l C T 10: 39,822,395 R963* probably null Het
Serinc4 C T 2: 121,452,427 S418N probably benign Het
Slc6a18 A G 13: 73,669,968 M310T probably benign Het
Slitrk3 T A 3: 73,050,768 S224C probably damaging Het
Slu7 T C 11: 43,445,203 I471T probably benign Het
Stxbp5 A G 10: 9,789,361 probably null Het
Tm7sf3 A T 6: 146,613,374 probably benign Het
Trem1 C T 17: 48,232,841 S16L probably benign Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Trp63 A T 16: 25,863,741 D184V probably damaging Het
Ttll6 T C 11: 96,152,073 probably null Het
Usp32 A G 11: 85,006,991 probably null Het
Vmn2r14 A T 5: 109,221,439 N89K probably damaging Het
Vmn2r76 T C 7: 86,225,706 R688G probably benign Het
Vmn2r93 A T 17: 18,305,034 H318L probably damaging Het
Vstm4 A G 14: 32,863,617 H47R probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Ybx2 T A 11: 69,940,331 S56T probably benign Het
Ybx2 C A 11: 69,940,332 S251Y probably benign Het
Zbtb3 T C 19: 8,804,214 probably null 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
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
R2035:Opn5 UTSW 17 42607161 missense probably damaging 0.97
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
R7831:Opn5 UTSW 17 42580619 missense probably null 0.85
R7914:Opn5 UTSW 17 42580619 missense probably null 0.85
Z1177:Opn5 UTSW 17 42596599 missense probably damaging 1.00
Posted On2015-04-16