Incidental Mutation 'R2022:Opn4'
ID224204
Institutional Source Beutler Lab
Gene Symbol Opn4
Ensembl Gene ENSMUSG00000021799
Gene Nameopsin 4 (melanopsin)
Synonyms
MMRRC Submission 040031-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2022 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location34590618-34600142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34597071 bp
ZygosityHeterozygous
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]
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
Akr1cl T A 1: 65,014,698 Y271F probably benign Het
Asnsd1 A G 1: 53,347,227 S414P possibly damaging Het
Atp12a T A 14: 56,365,282 M1K probably null Het
Atp4b A C 8: 13,387,477 N225K possibly damaging Het
Auh G A 13: 52,835,496 P308L probably benign Het
Cactin C T 10: 81,322,893 T231I possibly damaging Het
Casp8ap2 T C 4: 32,644,560 V1211A probably benign Het
Ccdc180 C A 4: 45,944,418 H1423N probably benign Het
Chd9 T C 8: 91,035,054 Y2256H probably benign Het
Chst8 A G 7: 34,675,164 Y417H possibly damaging Het
Clcn6 A G 4: 148,010,652 probably null Het
Clec5a A T 6: 40,585,194 V12E probably damaging Het
Crebbp C T 16: 4,085,819 R1852H probably damaging Het
Cyp2c40 T A 19: 39,812,780 probably benign Het
Dip2c T C 13: 9,551,800 L265P probably damaging Het
Dnah3 A G 7: 119,951,242 Y3274H probably damaging Het
Dnah6 T A 6: 73,027,422 T3853S probably benign Het
Dnttip2 T C 3: 122,276,221 S362P probably damaging Het
Dst G A 1: 34,166,291 V1025I possibly damaging Het
Dym T C 18: 75,080,250 V181A probably benign Het
Elk3 T A 10: 93,265,677 I71F probably damaging Het
Epb41l4a C T 18: 33,921,840 S65N probably benign Het
Erap1 T A 13: 74,666,508 V451E probably benign Het
F830045P16Rik T A 2: 129,472,665 I231F probably damaging Het
Fahd1 T C 17: 24,849,840 I88V probably benign Het
Fam120b C T 17: 15,424,376 T744I possibly damaging Het
Fam83f T G 15: 80,692,267 V373G possibly damaging Het
Frem1 G T 4: 82,913,558 T1988K probably benign Het
Gdap1l1 A T 2: 163,447,597 T161S probably benign Het
Gm5346 A T 8: 43,625,917 C423* probably null Het
Gm597 A T 1: 28,778,153 V266D probably damaging Het
Gm6309 C T 5: 146,168,311 G264D probably benign Het
Gm9268 A G 7: 43,024,030 N171D probably benign Het
Hsd11b1 T C 1: 193,240,378 T124A probably benign Het
Ino80b A G 6: 83,124,372 M119T probably damaging Het
Kif3a G A 11: 53,570,581 V17M probably damaging Het
Krt40 T A 11: 99,539,992 E285D probably damaging Het
Lair1 C G 7: 4,063,064 probably null Het
Lvrn A G 18: 46,866,436 T290A possibly damaging Het
Macf1 G T 4: 123,472,730 A2746E probably damaging Het
Matn4 A G 2: 164,400,653 V175A probably damaging Het
Mok A T 12: 110,811,823 D216E probably benign Het
Muc15 A T 2: 110,731,476 T86S probably benign Het
Myo16 A G 8: 10,272,633 K21R probably benign Het
Ncl A G 1: 86,356,955 probably null Het
Nfrkb C T 9: 31,411,250 T872I probably benign Het
Nhlrc2 A T 19: 56,597,278 E648D probably benign Het
Nlrp9c A T 7: 26,384,796 Y453N probably damaging Het
Notch4 T C 17: 34,587,528 L1813P probably damaging Het
Nrg3 T A 14: 38,376,352 D515V probably damaging Het
Nsd1 T C 13: 55,213,279 V20A probably damaging Het
Olfr825 T C 10: 130,163,180 M49V probably benign Het
Pcdh15 T G 10: 74,631,193 S1684A possibly damaging Het
Phf11a T A 14: 59,294,914 E24V possibly damaging Het
Pigg A T 5: 108,312,922 probably benign Het
Plscr2 A G 9: 92,295,594 D136G probably damaging Het
Ppp3r2 T C 4: 49,681,723 I76V probably benign Het
Prdm6 A G 18: 53,464,959 probably benign Het
Prex1 A G 2: 166,575,614 W1188R possibly damaging Het
Prmt2 T A 10: 76,225,458 R65* probably null Het
Prom1 G T 5: 44,029,726 D396E probably benign Het
Ptcd3 C T 6: 71,885,553 C466Y probably damaging Het
Ptk2 A G 15: 73,242,406 V701A possibly damaging Het
Rab36 T C 10: 75,052,474 I250T probably benign Het
Rsf1 G A 7: 97,579,910 probably benign Het
Scn11a G T 9: 119,811,208 A207E possibly damaging Het
Serpinb3d A G 1: 107,078,452 V302A probably benign Het
Slc22a16 T C 10: 40,591,877 Y469H probably damaging Het
Smo A G 6: 29,754,716 N262D possibly damaging Het
Sptan1 C T 2: 30,007,561 A1212V probably damaging Het
Ssr1 C T 13: 37,989,549 A79T probably damaging Het
Tctex1d4 A G 4: 117,128,307 E109G possibly damaging Het
Tiam1 T A 16: 89,877,187 T479S probably benign Het
Tm9sf3 A G 19: 41,238,792 F280S probably damaging Het
Tmem72 T C 6: 116,696,839 H106R probably damaging Het
Tnr A G 1: 159,852,022 I189V probably benign Het
Tpbpa T A 13: 60,940,222 N50I probably benign Het
Tshz1 T A 18: 84,013,862 Y807F probably damaging Het
Tspo2 C T 17: 48,448,722 A131T possibly damaging Het
Usp16 T C 16: 87,473,126 L322P probably damaging Het
Vmn1r185 A G 7: 26,611,510 V190A possibly damaging Het
Vmn1r34 T C 6: 66,637,401 K118E possibly damaging Het
Vmn1r68 A G 7: 10,527,991 L60P probably damaging Het
Vps51 T C 19: 6,071,582 E162G probably benign Het
Wdr66 G A 5: 123,273,790 G495D probably benign Het
Yy1 CGGG CGGGGGG 12: 108,793,990 probably benign Het
Zdhhc4 C T 5: 143,321,783 R161H probably damaging Het
Zfp456 A T 13: 67,366,497 C363* probably null Het
Zfp541 T A 7: 16,082,185 S866T probably damaging Het
Other mutations in Opn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Opn4 APN 14 34597209 splice site probably benign
IGL02628:Opn4 APN 14 34593057 missense probably benign 0.15
R0308:Opn4 UTSW 14 34597124 missense possibly damaging 0.79
R0586:Opn4 UTSW 14 34598973 splice site probably benign
R2860:Opn4 UTSW 14 34593828 critical splice donor site probably null
R2861:Opn4 UTSW 14 34593828 critical splice donor site probably null
R2862:Opn4 UTSW 14 34593828 critical splice donor site probably null
R3976:Opn4 UTSW 14 34597109 missense probably benign 0.12
R4007:Opn4 UTSW 14 34599832 missense probably benign 0.41
R4837:Opn4 UTSW 14 34596304 missense probably damaging 1.00
R5287:Opn4 UTSW 14 34592937 missense probably benign 0.01
R5403:Opn4 UTSW 14 34592937 missense probably benign 0.01
R6252:Opn4 UTSW 14 34594831 missense probably benign 0.22
R6991:Opn4 UTSW 14 34593907 missense probably benign 0.38
R7065:Opn4 UTSW 14 34595877 missense probably benign 0.06
R7761:Opn4 UTSW 14 34598852 missense probably benign 0.00
Z1177:Opn4 UTSW 14 34599838 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 On2014-08-25