Incidental Mutation 'R6986:Optc'
ID 542944
Institutional Source Beutler Lab
Gene Symbol Optc
Ensembl Gene ENSMUSG00000010311
Gene Name opticin
Synonyms
MMRRC Submission 045093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 133824937-133835737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133825702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 275 (M275L)
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 benign
Transcript: ENSMUST00000124051
AA Change: M328L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311
AA Change: M328L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000126123
SMART Domains Protein: ENSMUSP00000117086
Gene: ENSMUSG00000010311

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000149380
AA Change: M275L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311
AA Change: M275L

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000153617
AA Change: M275L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311
AA Change: M275L

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,129,441 (GRCm39) N482D probably damaging Het
Agbl3 A G 6: 34,816,387 (GRCm39) K766E probably benign Het
Aldh3a1 T A 11: 61,105,077 (GRCm39) I154N probably damaging Het
Cdca2 C T 14: 67,932,446 (GRCm39) V486I probably benign Het
Celf3 G C 3: 94,395,024 (GRCm39) A313P possibly damaging Het
Cgrrf1 T C 14: 47,069,586 (GRCm39) probably benign Het
Chd7 T A 4: 8,859,285 (GRCm39) N2458K possibly damaging Het
Chrna5 T A 9: 54,913,741 (GRCm39) M429K possibly damaging Het
Cux2 A T 5: 122,006,642 (GRCm39) L876Q possibly damaging Het
Cyb5rl T A 4: 106,928,073 (GRCm39) S3T probably benign Het
Ehd4 A T 2: 119,927,571 (GRCm39) M321K probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Endod1 T C 9: 14,268,606 (GRCm39) E293G probably damaging Het
Fat3 G A 9: 15,932,631 (GRCm39) T1434I probably damaging Het
Flrt2 T A 12: 95,747,459 (GRCm39) I599N probably damaging Het
Gm6370 T A 5: 146,430,398 (GRCm39) probably null Het
Gm7247 T C 14: 51,602,832 (GRCm39) M56T possibly damaging Het
H3c8 A G 13: 23,719,603 (GRCm39) probably benign Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Ints8 T C 4: 11,204,474 (GRCm39) Y994C probably damaging Het
Irf1 A G 11: 53,664,966 (GRCm39) T165A probably damaging Het
Lgr6 G T 1: 134,921,694 (GRCm39) Q217K possibly damaging Het
Lrrc36 T C 8: 106,185,079 (GRCm39) S619P probably damaging Het
Morn4 T C 19: 42,066,453 (GRCm39) N45D possibly damaging Het
Mtarc2 T C 1: 184,573,460 (GRCm39) H53R probably benign Het
Mtmr3 T C 11: 4,439,692 (GRCm39) T583A probably damaging Het
Ncdn A G 4: 126,641,022 (GRCm39) Y493H probably damaging Het
Nckap1 T A 2: 80,350,911 (GRCm39) Y726F probably benign Het
Or2w25 A G 11: 59,504,924 (GRCm39) K378R possibly damaging Het
Or6c69c G A 10: 129,911,199 (GRCm39) V307M possibly damaging Het
Perm1 A T 4: 156,302,976 (GRCm39) K507* probably null Het
Pgbd5 C T 8: 125,111,212 (GRCm39) E160K possibly damaging Het
Polr2k C A 15: 36,175,181 (GRCm39) P14T probably benign Het
Ppp2r3d A T 9: 124,439,080 (GRCm38) Y112* probably null Het
Pramel14 T A 4: 143,719,888 (GRCm39) D159V probably damaging Het
Rnase9 T C 14: 51,276,537 (GRCm39) N147S probably benign Het
Rnls C T 19: 33,359,781 (GRCm39) G11D probably damaging Het
Sbf2 T C 7: 109,929,822 (GRCm39) T333A probably damaging Het
Scn3a A T 2: 65,338,962 (GRCm39) N572K probably damaging Het
Serinc3 A G 2: 163,469,891 (GRCm39) L319P probably benign Het
Setbp1 T C 18: 78,901,054 (GRCm39) D871G probably damaging Het
Sf3b2 T C 19: 5,329,923 (GRCm39) T661A probably benign Het
Sgsm2 T A 11: 74,782,867 (GRCm39) R30W probably damaging Het
Sh3tc1 A G 5: 35,881,288 (GRCm39) S52P probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Snrpa A T 7: 26,892,389 (GRCm39) M57K probably damaging Het
Spata31f3 A G 4: 42,868,696 (GRCm39) V309A possibly damaging Het
Srbd1 A T 17: 86,292,650 (GRCm39) I973N probably damaging Het
Srp72 T A 5: 77,142,723 (GRCm39) S428T probably benign Het
Ss18l2 A G 9: 121,541,671 (GRCm39) Y50C probably damaging Het
St14 A G 9: 31,007,845 (GRCm39) L578P probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmc1 T C 19: 20,801,647 (GRCm39) N460D probably benign Het
Tnni3k C T 3: 154,667,501 (GRCm39) G280R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc3 A G 3: 36,709,165 (GRCm39) probably null Het
Tshr C T 12: 91,500,731 (GRCm39) A152V probably damaging Het
Tuft1 G A 3: 94,521,461 (GRCm39) P358S probably damaging Het
Vmn2r120 A T 17: 57,816,340 (GRCm39) S672T probably damaging Het
Vmn2r83 G T 10: 79,316,093 (GRCm39) E496D probably benign Het
Vmn2r91 A G 17: 18,356,271 (GRCm39) N646S probably benign Het
Zfp9 A G 6: 118,441,426 (GRCm39) V412A possibly damaging Het
Zmynd8 G T 2: 165,675,335 (GRCm39) H273N probably damaging Het
Other mutations in Optc
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4078:Optc UTSW 1 133,826,087 (GRCm39) missense probably damaging 1.00
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
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'- AGCCTCTTAGCACCATCTGG -3'
(R):5'- ACGTGGCCATGGAAGTGATG -3'

Sequencing Primer
(F):5'- CTCTTAGCACCATCTGGGAAGAG -3'
(R):5'- GCCATGGAAGTGATGTTCTCCAC -3'
Posted On 2018-11-28