Incidental Mutation 'R4078:Optc'
| ID |
316662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Optc
|
| Ensembl Gene |
ENSMUSG00000010311 |
| Gene Name |
opticin |
| Synonyms |
|
| MMRRC Submission |
041623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133824937-133835737 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133826087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 270
(H270R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124051]
[ENSMUST00000149380]
[ENSMUST00000153617]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124051
AA Change: H323R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311
AA Change: H323R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
LRRNT
|
176 |
206 |
2.22e-2 |
SMART |
|
LRR
|
200 |
224 |
3.55e1 |
SMART |
|
LRR_TYP
|
225 |
248 |
6.78e-3 |
SMART |
|
LRR
|
249 |
271 |
4.21e1 |
SMART |
|
LRR
|
295 |
318 |
1.76e1 |
SMART |
|
LRR
|
319 |
339 |
3.36e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126123
|
| SMART Domains |
Protein: ENSMUSP00000117086
Gene: ENSMUSG00000010311
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
LRRNT
|
166 |
196 |
2.22e-2 |
SMART |
|
LRR
|
190 |
214 |
3.55e1 |
SMART |
|
LRR_TYP
|
215 |
238 |
6.78e-3 |
SMART |
|
LRR
|
239 |
261 |
4.21e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149380
AA Change: H270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311
AA Change: H270R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
LRR
|
173 |
195 |
1.22e1 |
SMART |
|
LRR
|
196 |
218 |
4.21e1 |
SMART |
|
LRR
|
242 |
265 |
1.76e1 |
SMART |
|
LRR
|
266 |
286 |
3.36e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153617
AA Change: H270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311
AA Change: H270R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
LRR
|
173 |
195 |
1.22e1 |
SMART |
|
LRR
|
196 |
218 |
4.21e1 |
SMART |
|
LRR
|
242 |
265 |
1.76e1 |
SMART |
|
LRR
|
266 |
286 |
3.36e1 |
SMART |
|
| Meta Mutation Damage Score |
0.4822 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (70/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased preretinal neovascularization in an oxygen-induced retinopathy model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,215,359 (GRCm39) |
L367* |
probably null |
Het |
| Agfg1 |
T |
A |
1: 82,860,008 (GRCm39) |
S312T |
possibly damaging |
Het |
| Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
| Ambp |
T |
A |
4: 63,068,680 (GRCm39) |
K112N |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,807,119 (GRCm39) |
S102P |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cabs1 |
G |
A |
5: 88,128,161 (GRCm39) |
E271K |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,169,731 (GRCm39) |
K259R |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
| Cdh4 |
A |
G |
2: 179,530,966 (GRCm39) |
E616G |
possibly damaging |
Het |
| Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,540,128 (GRCm39) |
D975G |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,142,669 (GRCm39) |
R119L |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,790,059 (GRCm39) |
N918S |
unknown |
Het |
| Colec11 |
T |
C |
12: 28,645,246 (GRCm39) |
N142D |
possibly damaging |
Het |
| Cox7a2 |
G |
A |
9: 79,665,852 (GRCm39) |
Q10* |
probably null |
Het |
| Cyp2b23 |
C |
A |
7: 26,372,517 (GRCm39) |
G366V |
probably damaging |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
| Emsy |
G |
A |
7: 98,239,932 (GRCm39) |
P1108S |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
| Fam151a |
G |
A |
4: 106,604,954 (GRCm39) |
G439S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,442,159 (GRCm39) |
P1154S |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,034,169 (GRCm39) |
S2607N |
probably damaging |
Het |
| Fzd7 |
T |
A |
1: 59,522,948 (GRCm39) |
M277K |
possibly damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
| Gm38706 |
G |
T |
6: 130,460,700 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9758 |
T |
A |
5: 14,961,536 (GRCm39) |
|
probably null |
Het |
| Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
| Heatr9 |
C |
A |
11: 83,403,254 (GRCm39) |
K428N |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,568,495 (GRCm39) |
K591R |
possibly damaging |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,895 (GRCm39) |
|
probably benign |
Het |
| Lpp |
G |
A |
16: 24,500,611 (GRCm39) |
R141H |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,083,926 (GRCm39) |
Y606N |
probably damaging |
Het |
| Mroh5 |
C |
A |
15: 73,657,889 (GRCm39) |
C547F |
possibly damaging |
Het |
| Nek3 |
A |
T |
8: 22,622,153 (GRCm39) |
W363R |
probably damaging |
Het |
| Nphs1 |
T |
A |
7: 30,166,945 (GRCm39) |
Y717* |
probably null |
Het |
| Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
| Or2l5 |
T |
A |
16: 19,333,982 (GRCm39) |
M135L |
possibly damaging |
Het |
| Or5p80 |
T |
A |
7: 108,230,114 (GRCm39) |
M305K |
probably benign |
Het |
| Or9r7 |
G |
A |
10: 129,962,587 (GRCm39) |
T113I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,612,608 (GRCm39) |
|
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,306,948 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
T |
A |
12: 88,142,683 (GRCm39) |
I312F |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 31,562,978 (GRCm39) |
Y156C |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
| Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,078,777 (GRCm39) |
H304L |
probably benign |
Het |
| Stox1 |
C |
T |
10: 62,501,810 (GRCm39) |
C250Y |
probably benign |
Het |
| Sult2a3 |
A |
G |
7: 13,855,662 (GRCm39) |
W65R |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,082,398 (GRCm39) |
T4857K |
probably damaging |
Het |
| Tcp1 |
T |
C |
17: 13,136,970 (GRCm39) |
L64S |
probably benign |
Het |
| Thap11 |
G |
T |
8: 106,582,548 (GRCm39) |
E186* |
probably null |
Het |
| Tmem67 |
A |
G |
4: 12,040,633 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,046,216 (GRCm39) |
Y458C |
probably damaging |
Het |
| Ufd1 |
A |
G |
16: 18,644,528 (GRCm39) |
Y197C |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
| Usp49 |
A |
G |
17: 47,985,674 (GRCm39) |
T245A |
probably damaging |
Het |
| Washc1 |
A |
T |
17: 66,424,156 (GRCm39) |
E289D |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,969,011 (GRCm39) |
V450E |
probably benign |
Het |
| Zcchc17 |
T |
G |
4: 130,223,418 (GRCm39) |
I123L |
possibly damaging |
Het |
| Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
probably benign |
Het |
|
| Other mutations in Optc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Optc
|
APN |
1 |
133,829,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01900:Optc
|
APN |
1 |
133,829,867 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01988:Optc
|
APN |
1 |
133,834,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02070:Optc
|
APN |
1 |
133,828,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02859:Optc
|
APN |
1 |
133,829,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Optc
|
APN |
1 |
133,831,530 (GRCm39) |
splice site |
probably benign |
|
|
R0826:Optc
|
UTSW |
1 |
133,832,893 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1728:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1728:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1729:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1729:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1730:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1730:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1739:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1739:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1762:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1762:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1783:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1783:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1784:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R1784:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1785:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R1785:Optc
|
UTSW |
1 |
133,832,908 (GRCm39) |
missense |
probably benign |
|
|
R2049:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R2130:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R2131:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R2133:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R2141:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R2142:Optc
|
UTSW |
1 |
133,831,534 (GRCm39) |
splice site |
probably null |
|
|
R3436:Optc
|
UTSW |
1 |
133,825,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3437:Optc
|
UTSW |
1 |
133,825,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3711:Optc
|
UTSW |
1 |
133,832,819 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3902:Optc
|
UTSW |
1 |
133,825,701 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3930:Optc
|
UTSW |
1 |
133,828,920 (GRCm39) |
nonsense |
probably null |
|
|
R4523:Optc
|
UTSW |
1 |
133,831,492 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4672:Optc
|
UTSW |
1 |
133,825,555 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5113:Optc
|
UTSW |
1 |
133,828,715 (GRCm39) |
splice site |
probably benign |
|
|
R5176:Optc
|
UTSW |
1 |
133,829,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5530:Optc
|
UTSW |
1 |
133,832,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5692:Optc
|
UTSW |
1 |
133,828,714 (GRCm39) |
splice site |
probably benign |
|
|
R5819:Optc
|
UTSW |
1 |
133,825,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Optc
|
UTSW |
1 |
133,832,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Optc
|
UTSW |
1 |
133,825,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:Optc
|
UTSW |
1 |
133,825,554 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6986:Optc
|
UTSW |
1 |
133,825,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7349:Optc
|
UTSW |
1 |
133,825,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Optc
|
UTSW |
1 |
133,834,730 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8270:Optc
|
UTSW |
1 |
133,832,810 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8801:Optc
|
UTSW |
1 |
133,832,819 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8966:Optc
|
UTSW |
1 |
133,828,872 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9264:Optc
|
UTSW |
1 |
133,832,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9309:Optc
|
UTSW |
1 |
133,825,682 (GRCm39) |
missense |
probably benign |
|
|
X0025:Optc
|
UTSW |
1 |
133,825,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Optc
|
UTSW |
1 |
133,828,823 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCATTGAAGGCTCACAGC -3'
(R):5'- AATTGGACCACCTGATGCTG -3'
Sequencing Primer
(F):5'- TCCTGTGCAGCTGGAGAAG -3'
(R):5'- ACCTGATGCTGGCCTACTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation