Incidental Mutation 'R2022:Opn4'
ID 224204
Institutional Source Beutler Lab
Gene Symbol Opn4
Ensembl Gene ENSMUSG00000021799
Gene Name opsin 4 (melanopsin)
Synonyms 1110007J02Rik
MMRRC Submission 040031-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2022 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 34312575-34322099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34319028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 186 (T186S)
Ref Sequence ENSEMBL: ENSMUSP00000126136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022331] [ENSMUST00000168444]
AlphaFold Q9QXZ9
Predicted Effect probably benign
Transcript: ENSMUST00000022331
AA Change: T186S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: T186S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 77 324 6.9e-10 PFAM
Pfam:7TM_GPCR_Srsx 80 362 8.3e-13 PFAM
Pfam:7tm_1 86 347 2.9e-58 PFAM
Pfam:7TM_GPCR_Srv 108 362 1.5e-6 PFAM
low complexity region 383 401 N/A INTRINSIC
low complexity region 424 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168444
AA Change: T186S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: T186S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 77 324 1.1e-9 PFAM
Pfam:7TM_GPCR_Srsx 80 362 6.1e-13 PFAM
Pfam:7tm_1 86 347 2.6e-64 PFAM
Pfam:7TM_GPCR_Srv 108 362 1.2e-6 PFAM
low complexity region 383 401 N/A INTRINSIC
low complexity region 424 436 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226451
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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 gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in absent intrinsic inner retinal photosensitivity, abnormal pupillary reflex, and abnormal circadian rhythms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,954 (GRCm39) C423* probably null Het
Akr1cl T A 1: 65,053,857 (GRCm39) Y271F probably benign Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Atp12a T A 14: 56,602,739 (GRCm39) M1K probably null Het
Atp4b A C 8: 13,437,477 (GRCm39) N225K possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cactin C T 10: 81,158,727 (GRCm39) T231I possibly damaging Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc180 C A 4: 45,944,418 (GRCm39) H1423N probably benign Het
Cfap251 G A 5: 123,411,853 (GRCm39) G495D probably benign Het
Chd9 T C 8: 91,761,682 (GRCm39) Y2256H probably benign Het
Chst8 A G 7: 34,374,589 (GRCm39) Y417H possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Clec5a A T 6: 40,562,128 (GRCm39) V12E probably damaging Het
Crebbp C T 16: 3,903,683 (GRCm39) R1852H probably damaging Het
Cyp2c40 T A 19: 39,801,224 (GRCm39) probably benign Het
Dip2c T C 13: 9,601,836 (GRCm39) L265P probably damaging Het
Dnah3 A G 7: 119,550,465 (GRCm39) Y3274H probably damaging Het
Dnah6 T A 6: 73,004,405 (GRCm39) T3853S probably benign Het
Dnttip2 T C 3: 122,069,870 (GRCm39) S362P probably damaging Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dym T C 18: 75,213,321 (GRCm39) V181A probably benign Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Epb41l4a C T 18: 34,054,893 (GRCm39) S65N probably benign Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
F830045P16Rik T A 2: 129,314,585 (GRCm39) I231F probably damaging Het
Fahd1 T C 17: 25,068,814 (GRCm39) I88V probably benign Het
Fam120b C T 17: 15,644,638 (GRCm39) T744I possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gdap1l1 A T 2: 163,289,517 (GRCm39) T161S probably benign Het
Gm6309 C T 5: 146,105,121 (GRCm39) G264D probably benign Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ino80b A G 6: 83,101,353 (GRCm39) M119T probably damaging Het
Kif3a G A 11: 53,461,408 (GRCm39) V17M probably damaging Het
Krt40 T A 11: 99,430,818 (GRCm39) E285D probably damaging Het
Lair1 C G 7: 4,066,063 (GRCm39) probably null Het
Lvrn A G 18: 46,999,503 (GRCm39) T290A possibly damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Mok A T 12: 110,778,257 (GRCm39) D216E probably benign Het
Muc15 A T 2: 110,561,821 (GRCm39) T86S probably benign Het
Myo16 A G 8: 10,322,633 (GRCm39) K21R probably benign Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nfrkb C T 9: 31,322,546 (GRCm39) T872I probably benign Het
Nhlrc2 A T 19: 56,585,710 (GRCm39) E648D probably benign Het
Nlrp9c A T 7: 26,084,221 (GRCm39) Y453N probably damaging Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nrg3 T A 14: 38,098,309 (GRCm39) D515V probably damaging Het
Nsd1 T C 13: 55,361,092 (GRCm39) V20A probably damaging Het
Or9k2 T C 10: 129,999,049 (GRCm39) M49V probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Phf11a T A 14: 59,532,363 (GRCm39) E24V possibly damaging Het
Pigg A T 5: 108,460,788 (GRCm39) probably benign Het
Plscr2 A G 9: 92,177,647 (GRCm39) D136G probably damaging Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prdm6 A G 18: 53,598,031 (GRCm39) probably benign Het
Prex1 A G 2: 166,417,534 (GRCm39) W1188R possibly damaging Het
Prmt2 T A 10: 76,061,292 (GRCm39) R65* probably null Het
Prom1 G T 5: 44,187,068 (GRCm39) D396E probably benign Het
Ptcd3 C T 6: 71,862,537 (GRCm39) C466Y probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rab36 T C 10: 74,888,306 (GRCm39) I250T probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Slc22a16 T C 10: 40,467,873 (GRCm39) Y469H probably damaging Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Sptan1 C T 2: 29,897,573 (GRCm39) A1212V probably damaging Het
Ssr1 C T 13: 38,173,525 (GRCm39) A79T probably damaging Het
Tiam1 T A 16: 89,674,075 (GRCm39) T479S probably benign Het
Tm9sf3 A G 19: 41,227,231 (GRCm39) F280S probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Tpbpa T A 13: 61,088,036 (GRCm39) N50I probably benign Het
Tshz1 T A 18: 84,031,987 (GRCm39) Y807F probably damaging Het
Tspo2 C T 17: 48,755,750 (GRCm39) A131T possibly damaging Het
Usp16 T C 16: 87,270,014 (GRCm39) L322P probably damaging Het
Vmn1r185 A G 7: 26,310,935 (GRCm39) V190A possibly damaging Het
Vmn1r34 T C 6: 66,614,385 (GRCm39) K118E possibly damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r-ps158 A G 7: 42,673,454 (GRCm39) N171D probably benign Het
Vps51 T C 19: 6,121,612 (GRCm39) E162G probably benign Het
Yy1 CGGG CGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zdhhc4 C T 5: 143,307,538 (GRCm39) R161H probably damaging Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp541 T A 7: 15,816,110 (GRCm39) S866T probably damaging Het
Other mutations in Opn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Opn4 APN 14 34,319,166 (GRCm39) splice site probably benign
IGL02628:Opn4 APN 14 34,315,014 (GRCm39) missense probably benign 0.15
purge UTSW 14 34,318,986 (GRCm39) missense probably damaging 1.00
R0308:Opn4 UTSW 14 34,319,081 (GRCm39) missense possibly damaging 0.79
R0586:Opn4 UTSW 14 34,320,930 (GRCm39) splice site probably benign
R2860:Opn4 UTSW 14 34,315,785 (GRCm39) critical splice donor site probably null
R2861:Opn4 UTSW 14 34,315,785 (GRCm39) critical splice donor site probably null
R2862:Opn4 UTSW 14 34,315,785 (GRCm39) critical splice donor site probably null
R3976:Opn4 UTSW 14 34,319,066 (GRCm39) missense probably benign 0.12
R4007:Opn4 UTSW 14 34,321,789 (GRCm39) missense probably benign 0.41
R4837:Opn4 UTSW 14 34,318,261 (GRCm39) missense probably damaging 1.00
R5287:Opn4 UTSW 14 34,314,894 (GRCm39) missense probably benign 0.01
R5403:Opn4 UTSW 14 34,314,894 (GRCm39) missense probably benign 0.01
R6252:Opn4 UTSW 14 34,316,788 (GRCm39) missense probably benign 0.22
R6991:Opn4 UTSW 14 34,315,864 (GRCm39) missense probably benign 0.38
R7065:Opn4 UTSW 14 34,317,834 (GRCm39) missense probably benign 0.06
R7761:Opn4 UTSW 14 34,320,809 (GRCm39) missense probably benign 0.00
R8716:Opn4 UTSW 14 34,315,819 (GRCm39) missense probably benign 0.28
R8849:Opn4 UTSW 14 34,318,986 (GRCm39) missense probably damaging 1.00
R8922:Opn4 UTSW 14 34,314,955 (GRCm39) missense probably benign 0.00
Z1177:Opn4 UTSW 14 34,321,795 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GTGAGCCCTCTGAATGTCCATC -3'
(R):5'- GAAGGAGCTGAGTTTGTCCC -3'

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