Incidental Mutation 'IGL00944:Opn5'
ID29297
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: 0.122) question?
Stock #IGL00944
Quality Score
Status
Chromosome17
Chromosomal Location42556783-42611313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 42611228 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 28 (L28F)
Ref Sequence ENSEMBL: ENSMUSP00000063542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068355]
Predicted Effect probably damaging
Transcript: ENSMUST00000068355
AA Change: L28F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063542
Gene: ENSMUSG00000043972
AA Change: L28F

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,202,161 N441S probably damaging Het
Bod1l A G 5: 41,816,823 C2383R probably benign Het
Dapk3 G T 10: 81,184,076 probably null Het
Dock6 T C 9: 21,846,634 D58G possibly damaging Het
Elmsan1 A G 12: 84,160,548 probably benign Het
Etl4 G A 2: 20,530,054 V107I possibly damaging Het
Fam163b A G 2: 27,113,585 L19P probably damaging Het
Fbxl20 A C 11: 98,113,242 F73L probably damaging Het
Foxj2 T C 6: 122,839,635 L492P probably damaging Het
Hfm1 A T 5: 106,902,130 V391E possibly damaging Het
Ift74 T C 4: 94,693,022 Y586H probably damaging Het
Klhl12 A G 1: 134,483,753 N280S probably benign Het
Lctl T A 9: 64,133,129 Y292* probably null Het
Ltb C A 17: 35,194,666 Q49K possibly damaging Het
Mapk1 T A 16: 17,035,458 D289E probably benign Het
Mpp6 T C 6: 50,163,456 V152A possibly damaging Het
Mroh2b C T 15: 4,951,127 probably benign Het
Myot T C 18: 44,337,114 S53P possibly damaging Het
Olfr1089 A G 2: 86,733,561 I17T possibly damaging Het
Olfr1447 A T 19: 12,901,355 Y142N probably benign Het
Pld1 T A 3: 28,045,098 probably null Het
Rc3h2 A G 2: 37,398,238 probably benign Het
Robo2 T A 16: 73,933,697 H1009L possibly damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Sh3bp1 A T 15: 78,905,114 D288V possibly damaging Het
Smpd4 T C 16: 17,642,757 I809T probably benign Het
Spata6 C T 4: 111,805,928 probably benign Het
Trnau1ap C A 4: 132,328,506 V30L possibly damaging Het
Trpm4 T C 7: 45,318,349 H386R probably benign Het
Ttc3 T G 16: 94,426,761 probably null Het
Ufd1 T C 16: 18,825,031 V180A possibly damaging Het
Vmn2r102 A G 17: 19,678,892 I499V probably damaging Het
Zfp112 C A 7: 24,125,596 Q330K probably benign Het
Zfp668 G A 7: 127,867,907 R166W probably damaging Het
Other mutations in Opn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-04-17