Incidental Mutation 'R8922:Opn4'
ID 679354
Institutional Source Beutler Lab
Gene Symbol Opn4
Ensembl Gene ENSMUSG00000021799
Gene Name opsin 4 (melanopsin)
Synonyms 1110007J02Rik
MMRRC Submission 068767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8922 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 34312575-34322099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34314955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 439 (S439R)
Ref Sequence ENSEMBL: ENSMUSP00000022331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022327] [ENSMUST00000022328] [ENSMUST00000022330] [ENSMUST00000022331] [ENSMUST00000064098] [ENSMUST00000090040] [ENSMUST00000168444] [ENSMUST00000227819] [ENSMUST00000228044]
AlphaFold Q9QXZ9
Predicted Effect probably benign
Transcript: ENSMUST00000022327
SMART Domains Protein: ENSMUSP00000022327
Gene: ENSMUSG00000021798

DomainStartEndE-ValueType
PDZ 11 84 1.68e-16 SMART
low complexity region 138 147 N/A INTRINSIC
ZM 186 211 1.33e-8 SMART
low complexity region 214 229 N/A INTRINSIC
low complexity region 309 353 N/A INTRINSIC
low complexity region 359 376 N/A INTRINSIC
low complexity region 418 473 N/A INTRINSIC
LIM 546 597 2.72e-16 SMART
LIM 605 656 2.65e-19 SMART
LIM 664 717 1.04e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022328
SMART Domains Protein: ENSMUSP00000022328
Gene: ENSMUSG00000021798

DomainStartEndE-ValueType
PDZ 11 84 1.68e-16 SMART
low complexity region 138 147 N/A INTRINSIC
ZM 186 211 1.33e-8 SMART
low complexity region 214 229 N/A INTRINSIC
low complexity region 297 314 N/A INTRINSIC
low complexity region 356 411 N/A INTRINSIC
LIM 484 535 2.72e-16 SMART
LIM 543 594 2.65e-19 SMART
LIM 602 655 1.04e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022330
SMART Domains Protein: ENSMUSP00000022330
Gene: ENSMUSG00000021798

DomainStartEndE-ValueType
PDZ 11 84 1.68e-16 SMART
low complexity region 138 147 N/A INTRINSIC
ZM 186 211 1.33e-8 SMART
low complexity region 214 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022331
AA Change: S439R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: S439R

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: ENSMUST00000064098
SMART Domains Protein: ENSMUSP00000066784
Gene: ENSMUSG00000021798

DomainStartEndE-ValueType
PDZ 11 84 1.68e-16 SMART
ZM 148 173 5.18e-11 SMART
low complexity region 265 309 N/A INTRINSIC
low complexity region 315 332 N/A INTRINSIC
low complexity region 374 429 N/A INTRINSIC
LIM 502 553 2.72e-16 SMART
LIM 561 612 2.65e-19 SMART
LIM 620 673 1.04e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090040
SMART Domains Protein: ENSMUSP00000087494
Gene: ENSMUSG00000021798

DomainStartEndE-ValueType
PDZ 11 84 1.68e-16 SMART
ZM 148 173 5.18e-11 SMART
low complexity region 270 314 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
low complexity region 379 434 N/A INTRINSIC
LIM 507 558 2.72e-16 SMART
LIM 566 617 2.65e-19 SMART
LIM 625 678 1.04e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168444
AA Change: S439R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: S439R

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 probably benign
Transcript: ENSMUST00000227819
Predicted Effect probably benign
Transcript: ENSMUST00000228044
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (78/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 88,295,177 (GRCm39) D105G possibly damaging Het
Abhd14b T C 9: 106,328,835 (GRCm39) probably null Het
Acot1 C T 12: 84,064,085 (GRCm39) Q398* probably null Het
Adam26b A T 8: 43,973,216 (GRCm39) D595E probably damaging Het
Aldh1l1 T A 6: 90,536,256 (GRCm39) F54I probably damaging Het
Arhgap33 C T 7: 30,223,417 (GRCm39) E871K probably damaging Het
Aspg A T 12: 112,089,830 (GRCm39) D456V possibly damaging Het
Cacna1b A C 2: 24,622,340 (GRCm39) S215A possibly damaging Het
Car3 A T 3: 14,931,952 (GRCm39) T108S Het
Ccdc91 C T 6: 147,412,358 (GRCm39) Q23* probably null Het
Cd300lg A T 11: 101,945,028 (GRCm39) I413F probably damaging Het
Ces2h T A 8: 105,744,756 (GRCm39) M378K probably benign Het
Cfap44 C T 16: 44,272,030 (GRCm39) T1261I probably benign Het
Cir1 G A 2: 73,118,053 (GRCm39) S164L possibly damaging Het
Clasp2 A T 9: 113,725,728 (GRCm39) K790* probably null Het
Cpne8 A T 15: 90,456,213 (GRCm39) D183E probably damaging Het
Dhrs13 A G 11: 77,923,425 (GRCm39) I48V possibly damaging Het
Dpp8 G T 9: 64,981,793 (GRCm39) V692L probably benign Het
Exoc2 A T 13: 31,055,838 (GRCm39) I660N probably benign Het
Exosc5 T C 7: 25,363,673 (GRCm39) V88A probably benign Het
Extl3 G A 14: 65,292,255 (GRCm39) T856I probably damaging Het
Flnc T C 6: 29,456,835 (GRCm39) V2277A probably damaging Het
Frmd8 A G 19: 5,923,295 (GRCm39) I52T probably benign Het
Gm8947 C T 1: 151,068,655 (GRCm39) R163C probably benign Het
Golga7 A T 8: 23,740,288 (GRCm39) C81S probably damaging Het
Grik1 A C 16: 87,693,167 (GRCm39) S879A unknown Het
Helz A G 11: 107,539,985 (GRCm39) T1002A possibly damaging Het
Hes1 T A 16: 29,884,725 (GRCm39) L62* probably null Het
Hmgn2-ps A G 8: 73,058,953 (GRCm39) S25P probably benign Het
Hnrnpdl A T 5: 100,184,419 (GRCm39) Y371* probably null Het
Ifna11 T C 4: 88,738,431 (GRCm39) V79A probably benign Het
Itga4 A G 2: 79,085,938 (GRCm39) probably benign Het
Kap T C 6: 133,827,054 (GRCm39) I110V probably benign Het
Lmbrd2 A G 15: 9,172,231 (GRCm39) K342E probably damaging Het
Lrba A G 3: 86,263,973 (GRCm39) D1549G probably damaging Het
Luzp1 C T 4: 136,270,233 (GRCm39) H819Y probably damaging Het
Mmp21 T A 7: 133,276,000 (GRCm39) probably benign Het
Mto1 T C 9: 78,377,928 (GRCm39) V590A probably benign Het
Myom3 T C 4: 135,492,222 (GRCm39) L122P probably damaging Het
Nat10 T C 2: 103,582,938 (GRCm39) Y161C probably damaging Het
Ncor2 A G 5: 125,163,939 (GRCm39) V197A unknown Het
Or12j3 T A 7: 139,953,389 (GRCm39) I45F possibly damaging Het
Or4c3d C A 2: 89,882,695 (GRCm39) probably benign Het
Or56a41 C A 7: 104,740,469 (GRCm39) V126L probably benign Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Or5p75-ps1 T A 7: 108,107,957 (GRCm39) D231E unknown Het
Pik3c2a G T 7: 116,017,659 (GRCm39) Q33K probably damaging Het
Pm20d1 G T 1: 131,728,853 (GRCm39) S93I possibly damaging Het
Pou3f1 C T 4: 124,552,176 (GRCm39) A226V possibly damaging Het
Ppl T C 16: 4,923,815 (GRCm39) E191G probably benign Het
Prkag1 T C 15: 98,712,147 (GRCm39) T208A probably benign Het
Rb1cc1 T C 1: 6,319,194 (GRCm39) I871T probably benign Het
Rhd T C 4: 134,612,627 (GRCm39) S293P probably damaging Het
Rprd2 G T 3: 95,687,896 (GRCm39) T252K probably damaging Het
Scn5a C A 9: 119,363,766 (GRCm39) R458L probably benign Het
Scrib C T 15: 75,933,587 (GRCm39) probably null Het
Sec24d G A 3: 123,144,488 (GRCm39) G655E probably damaging Het
Serpine3 A G 14: 62,910,503 (GRCm39) R199G probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc44a1 A G 4: 53,544,545 (GRCm39) K419E probably damaging Het
Speer4a3 C T 5: 26,156,594 (GRCm39) M128I possibly damaging Het
Styxl1 T C 5: 135,776,634 (GRCm39) E318G probably benign Het
Tcstv2a A G 13: 120,725,666 (GRCm39) E110G probably benign Het
Tesmin A G 19: 3,454,163 (GRCm39) K346E probably damaging Het
Thpo A T 16: 20,547,680 (GRCm39) L6Q unknown Het
Tlr2 T A 3: 83,745,075 (GRCm39) E336V probably benign Het
Tmem167b A G 3: 108,467,541 (GRCm39) L35P probably benign Het
Topaz1 A T 9: 122,625,101 (GRCm39) E1395D possibly damaging Het
Trim29 G T 9: 43,233,636 (GRCm39) R434L possibly damaging Het
Trim68 T C 7: 102,327,550 (GRCm39) I468V probably benign Het
Ttn C A 2: 76,542,628 (GRCm39) V33453F probably benign Het
Ubac1 A T 2: 25,896,621 (GRCm39) V298D probably damaging Het
Vmn1r185 C A 7: 26,310,825 (GRCm39) V227F probably damaging Het
Vmn1r21 T A 6: 57,820,829 (GRCm39) H205L probably damaging Het
Zbtb16 A G 9: 48,743,857 (GRCm39) Y152H probably benign Het
Zbtb20 A T 16: 43,397,968 (GRCm39) N19I probably damaging Het
Zfp438 A G 18: 5,213,422 (GRCm39) M512T possibly 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
R2022:Opn4 UTSW 14 34,319,028 (GRCm39) missense probably benign 0.25
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
Z1177:Opn4 UTSW 14 34,321,795 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TGAGAGTCACATCATCCTCTAGG -3'
(R):5'- CGCCCATTAAATCTCTGTGCAG -3'

Sequencing Primer
(F):5'- GACACTCTGAGAGGCCTGTG -3'
(R):5'- CTGTGCAGAGGCTTAAGGG -3'
Posted On 2021-08-02