Incidental Mutation 'IGL02628:Opn4'
| ID |
301172 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Opn4
|
| Ensembl Gene |
ENSMUSG00000021799 |
| Gene Name |
opsin 4 (melanopsin) |
| Synonyms |
1110007J02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02628
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
34312575-34322099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34315014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 420
(T420S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126136
(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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: T420S
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022331
Gene: ENSMUSG00000021799
AA Change: T420S
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: T420S
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126136
Gene: ENSMUSG00000021799
AA Change: T420S
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000226806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228044
|
| 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 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
A |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
T |
C |
18: 36,780,756 (GRCm39) |
V1936A |
probably benign |
Het |
| Ap3m1 |
C |
A |
14: 21,095,588 (GRCm39) |
E81* |
probably null |
Het |
| Camkk1 |
T |
C |
11: 72,919,995 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmc1 |
A |
G |
9: 117,894,376 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,794 (GRCm39) |
D184V |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,644 (GRCm39) |
D1373V |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,247,796 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,639,019 (GRCm39) |
R328W |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,919 (GRCm39) |
R579G |
probably benign |
Het |
| Gm42641 |
G |
A |
9: 108,887,698 (GRCm39) |
Q98* |
probably null |
Het |
| Hsd17b7 |
A |
G |
1: 169,792,058 (GRCm39) |
F117L |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,585 (GRCm39) |
I467T |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,581,567 (GRCm39) |
I382F |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,097,088 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
C |
T |
10: 89,309,701 (GRCm39) |
A339T |
probably damaging |
Het |
| Or5h22 |
A |
C |
16: 58,895,155 (GRCm39) |
M96R |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,916,756 (GRCm39) |
Y50C |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,026,434 (GRCm39) |
M1K |
probably null |
Het |
| T |
T |
A |
17: 8,654,190 (GRCm39) |
I125N |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,263 (GRCm39) |
S710T |
probably benign |
Het |
| Trav3-1 |
T |
A |
14: 52,818,551 (GRCm39) |
V75E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,354,143 (GRCm39) |
Y832H |
possibly damaging |
Het |
| Zng1 |
T |
A |
19: 24,935,269 (GRCm39) |
E78D |
probably damaging |
Het |
|
| Other mutations in Opn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01872:Opn4
|
APN |
14 |
34,319,166 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation