Incidental Mutation 'IGL02070:Optc'
ID185797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Optc
Ensembl Gene ENSMUSG00000010311
Gene Nameopticin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02070
Quality Score
Status
Chromosome1
Chromosomal Location133897199-133907999 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 133901176 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 178 (I178F)
Ref Sequence ENSEMBL: ENSMUSP00000123262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124051] [ENSMUST00000149380] [ENSMUST00000153617]
Predicted Effect probably damaging
Transcript: ENSMUST00000124051
AA Change: I231F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311
AA Change: I231F

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 noncoding transcript
Transcript: ENSMUST00000124245
Predicted Effect unknown
Transcript: ENSMUST00000126123
AA Change: I220F
SMART Domains Protein: ENSMUSP00000117086
Gene: ENSMUSG00000010311
AA Change: I220F

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 damaging
Transcript: ENSMUST00000149380
AA Change: I178F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311
AA Change: I178F

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 damaging
Transcript: ENSMUST00000153617
AA Change: I178F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311
AA Change: I178F

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Optc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Optc APN 1 133902108 missense probably damaging 1.00
IGL01900:Optc APN 1 133902129 missense possibly damaging 0.68
IGL01988:Optc APN 1 133906929 critical splice donor site probably null
IGL02859:Optc APN 1 133902061 missense probably damaging 1.00
IGL03166:Optc APN 1 133903792 splice site probably benign
R0826:Optc UTSW 1 133905155 missense probably benign 0.07
R1728:Optc UTSW 1 133903796 splice site probably null
R1728:Optc UTSW 1 133905170 missense probably benign
R1729:Optc UTSW 1 133903796 splice site probably null
R1729:Optc UTSW 1 133905170 missense probably benign
R1730:Optc UTSW 1 133903796 splice site probably null
R1730:Optc UTSW 1 133905170 missense probably benign
R1739:Optc UTSW 1 133903796 splice site probably null
R1739:Optc UTSW 1 133905170 missense probably benign
R1762:Optc UTSW 1 133903796 splice site probably null
R1762:Optc UTSW 1 133905170 missense probably benign
R1783:Optc UTSW 1 133903796 splice site probably null
R1783:Optc UTSW 1 133905170 missense probably benign
R1784:Optc UTSW 1 133903796 splice site probably null
R1784:Optc UTSW 1 133905170 missense probably benign
R1785:Optc UTSW 1 133903796 splice site probably null
R1785:Optc UTSW 1 133905170 missense probably benign
R2049:Optc UTSW 1 133903796 splice site probably null
R2130:Optc UTSW 1 133903796 splice site probably null
R2131:Optc UTSW 1 133903796 splice site probably null
R2133:Optc UTSW 1 133903796 splice site probably null
R2141:Optc UTSW 1 133903796 splice site probably null
R2142:Optc UTSW 1 133903796 splice site probably null
R3436:Optc UTSW 1 133897879 missense probably damaging 1.00
R3437:Optc UTSW 1 133897879 missense probably damaging 1.00
R3711:Optc UTSW 1 133905081 missense probably benign 0.15
R3902:Optc UTSW 1 133897963 missense probably benign 0.10
R3930:Optc UTSW 1 133901182 nonsense probably null
R4078:Optc UTSW 1 133898349 missense probably damaging 1.00
R4523:Optc UTSW 1 133903754 missense possibly damaging 0.94
R4672:Optc UTSW 1 133897817 missense possibly damaging 0.48
R5113:Optc UTSW 1 133900977 splice site probably benign
R5176:Optc UTSW 1 133902084 missense probably benign 0.00
R5530:Optc UTSW 1 133905090 missense probably benign 0.01
R5692:Optc UTSW 1 133900976 splice site probably benign
R5819:Optc UTSW 1 133897879 missense probably damaging 1.00
R6208:Optc UTSW 1 133904999 missense probably damaging 1.00
R6828:Optc UTSW 1 133897867 missense probably damaging 1.00
R6859:Optc UTSW 1 133897816 missense possibly damaging 0.95
R6986:Optc UTSW 1 133897964 missense probably benign 0.00
R7349:Optc UTSW 1 133897879 missense probably damaging 1.00
R7754:Optc UTSW 1 133906992 missense possibly damaging 0.73
R8270:Optc UTSW 1 133905072 missense probably benign 0.02
X0025:Optc UTSW 1 133897911 missense probably damaging 1.00
Z1177:Optc UTSW 1 133901085 missense probably benign 0.14
Posted On2014-05-07