Incidental Mutation 'R6208:Optc'
ID 503239
Institutional Source Beutler Lab
Gene Symbol Optc
Ensembl Gene ENSMUSG00000010311
Gene Name opticin
Synonyms
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 133824937-133835737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133832737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
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: D121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311
AA Change: D121G

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: D110G
SMART Domains Protein: ENSMUSP00000117086
Gene: ENSMUSG00000010311
AA Change: D110G

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: D121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311
AA Change: D121G

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: D121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311
AA Change: D121G

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 noncoding transcript
Transcript: ENSMUST00000160564
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign 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
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'- GGATAAGAATTTGTACCTTATGCCTGC -3'
(R):5'- AAGTTCCTGGCTTTCCTGAGTC -3'

Sequencing Primer
(F):5'- CTGCCTTCAACAAAGTGAGATG -3'
(R):5'- GCTTTCCTGAGTCTGTTGAGC -3'
Posted On 2018-02-27