Incidental Mutation 'R2040:Opn3'
ID 225477
Institutional Source Beutler Lab
Gene Symbol Opn3
Ensembl Gene ENSMUSG00000026525
Gene Name opsin 3
Synonyms panopsin, ERO, Ecpn, encephalopsin
MMRRC Submission 040047-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2040 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 175489987-175520198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 175491145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 296 (A296V)
Ref Sequence ENSEMBL: ENSMUSP00000027809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027809] [ENSMUST00000040250] [ENSMUST00000097458] [ENSMUST00000140474]
AlphaFold Q9WUK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000027809
AA Change: A296V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027809
Gene: ENSMUSG00000026525
AA Change: A296V

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Pfam:7tm_1 56 307 4.7e-36 PFAM
low complexity region 314 331 N/A INTRINSIC
low complexity region 363 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040250
SMART Domains Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783

DomainStartEndE-ValueType
Pfam:FAD_binding_3 9 328 5.6e-22 PFAM
Pfam:NAD_binding_8 13 63 2.2e-7 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097458
SMART Domains Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783

DomainStartEndE-ValueType
Pfam:FAD_binding_3 9 328 5.8e-22 PFAM
Pfam:NAD_binding_8 13 63 2.1e-7 PFAM
transmembrane domain 391 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140474
SMART Domains Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783

DomainStartEndE-ValueType
Pfam:FAD_binding_3 44 240 2.9e-10 PFAM
Meta Mutation Damage Score 0.7629 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (67/68)
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. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice exhibit normal photoentrainment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,693,607 (GRCm39) I75L probably benign Het
Abca2 T C 2: 25,333,817 (GRCm39) L1755P probably damaging Het
Adam6b A T 12: 113,454,364 (GRCm39) I394L probably benign Het
Ano2 T A 6: 126,016,471 (GRCm39) N1001K probably benign Het
Arap2 A T 5: 62,906,259 (GRCm39) N253K probably damaging Het
Ascc3 T C 10: 50,604,227 (GRCm39) C1316R probably benign Het
Atox1 T C 11: 55,341,343 (GRCm39) Y64C probably benign Het
Atp13a1 A G 8: 70,259,702 (GRCm39) T1098A possibly damaging Het
Casr T C 16: 36,330,728 (GRCm39) E202G possibly damaging Het
Cct2 T C 10: 116,889,018 (GRCm39) T494A probably benign Het
Cd209e T A 8: 3,899,158 (GRCm39) N185Y probably damaging Het
Celsr1 A G 15: 85,917,088 (GRCm39) L295P probably damaging Het
Cyp26a1 A G 19: 37,686,499 (GRCm39) T48A possibly damaging Het
Elovl3 A G 19: 46,121,567 (GRCm39) S37G probably benign Het
Fbh1 T G 2: 11,774,706 (GRCm39) D13A possibly damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Frem3 G T 8: 81,342,455 (GRCm39) V1583L possibly damaging Het
Gm21863 C A 12: 20,004,515 (GRCm39) Q4K possibly damaging Het
Gm266 T C 12: 111,452,132 (GRCm39) T25A possibly damaging Het
Gm8674 T C 13: 50,055,705 (GRCm39) noncoding transcript Het
Greb1 T C 12: 16,752,651 (GRCm39) H897R probably damaging Het
Hells A G 19: 38,943,474 (GRCm39) D565G probably damaging Het
Hfm1 C T 5: 107,049,684 (GRCm39) V426I probably damaging Het
Ints6 G A 14: 62,951,138 (GRCm39) T297I probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kmt2b A T 7: 30,268,845 (GRCm39) M2628K probably damaging Het
Ktn1 T G 14: 47,938,069 (GRCm39) probably benign Het
Lyst T A 13: 13,815,807 (GRCm39) D1230E probably benign Het
Mboat1 T C 13: 30,425,300 (GRCm39) probably null Het
Moxd2 T C 6: 40,861,887 (GRCm39) probably null Het
Mtmr4 T C 11: 87,495,916 (GRCm39) M527T probably damaging Het
Myt1 T A 2: 181,467,717 (GRCm39) N1050K probably damaging Het
Ncoa6 A T 2: 155,248,000 (GRCm39) V1768E probably damaging Het
Nelfcd G A 2: 174,261,875 (GRCm39) C48Y probably damaging Het
Or13a22 T C 7: 140,073,295 (GRCm39) I248T probably benign Het
Or2z8 T A 8: 72,811,607 (GRCm39) F28I possibly damaging Het
Pam T C 1: 97,792,167 (GRCm39) E418G possibly damaging Het
Prrc2c A T 1: 162,525,126 (GRCm39) N493K probably damaging Het
Ptpn18 A G 1: 34,509,300 (GRCm39) Q165R probably damaging Het
Ptpro C A 6: 137,363,162 (GRCm39) probably benign Het
Ralgapa1 A G 12: 55,833,107 (GRCm39) F132S probably damaging Het
Robo1 T C 16: 72,730,630 (GRCm39) C244R probably damaging Het
Robo3 A C 9: 37,338,760 (GRCm39) V316G probably damaging Het
Rsl1 T C 13: 67,330,145 (GRCm39) S198P probably damaging Het
Rsph9 T C 17: 46,445,910 (GRCm39) D220G probably damaging Het
Rxfp2 A C 5: 149,993,677 (GRCm39) I580L probably benign Het
Septin7 G A 9: 25,199,532 (GRCm39) A144T possibly damaging Het
Sfn T C 4: 133,328,603 (GRCm39) K160E probably benign Het
Ski A G 4: 155,306,029 (GRCm39) Y317H probably damaging Het
Skic3 A C 13: 76,328,222 (GRCm39) R1423S probably damaging Het
Slc22a22 A T 15: 57,110,936 (GRCm39) Y430* probably null Het
Src A G 2: 157,299,030 (GRCm39) K9R probably benign Het
Srm C T 4: 148,678,453 (GRCm39) P255L possibly damaging Het
Stpg4 T A 17: 87,730,075 (GRCm39) N90I probably damaging Het
Sytl2 T A 7: 90,031,069 (GRCm39) probably benign Het
Tbpl2 T C 2: 23,984,871 (GRCm39) K92R probably benign Het
Tlcd4 G T 3: 121,024,975 (GRCm39) probably benign Het
Tmem38a T A 8: 73,335,096 (GRCm39) N178K probably damaging Het
Tnfaip3 T C 10: 18,883,900 (GRCm39) D160G possibly damaging Het
Vegfb T A 19: 6,963,407 (GRCm39) H119L possibly damaging Het
Vmn2r111 T A 17: 22,767,395 (GRCm39) I701F probably damaging Het
Vmn2r95 C T 17: 18,661,561 (GRCm39) L436F probably damaging Het
Wdr47 T C 3: 108,530,688 (GRCm39) C394R probably benign Het
Ythdc2 T A 18: 44,988,241 (GRCm39) Y16* probably null Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp353-ps A G 8: 42,535,333 (GRCm39) noncoding transcript Het
Other mutations in Opn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0349:Opn3 UTSW 1 175,519,870 (GRCm39) missense probably damaging 1.00
R0377:Opn3 UTSW 1 175,491,260 (GRCm39) missense probably damaging 1.00
R2351:Opn3 UTSW 1 175,520,077 (GRCm39) missense probably benign
R4868:Opn3 UTSW 1 175,491,127 (GRCm39) missense probably damaging 1.00
R5561:Opn3 UTSW 1 175,493,153 (GRCm39) missense probably damaging 1.00
R6232:Opn3 UTSW 1 175,490,669 (GRCm39) missense probably damaging 0.99
R6848:Opn3 UTSW 1 175,490,615 (GRCm39) missense probably damaging 1.00
R7275:Opn3 UTSW 1 175,493,039 (GRCm39) missense probably damaging 1.00
R7522:Opn3 UTSW 1 175,493,189 (GRCm39) missense probably benign 0.08
R7774:Opn3 UTSW 1 175,490,471 (GRCm39) missense probably damaging 0.99
R8081:Opn3 UTSW 1 175,493,135 (GRCm39) missense probably damaging 0.96
R9205:Opn3 UTSW 1 175,490,655 (GRCm39) missense probably benign 0.05
Z1177:Opn3 UTSW 1 175,520,229 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACCTCCGAAACTGCAGAGAG -3'
(R):5'- ACCATTCAAGTGATCAAGATGC -3'

Sequencing Primer
(F):5'- TCTGGTCTGCTAGAAGAGTAACC -3'
(R):5'- TCAAGTGATCAAGATGCTAAGATATG -3'
Posted On 2014-08-25