Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Optc'

348481

Institutional Source

Beutler Lab

Gene Symbol

Optc

Ensembl Gene

ENSMUSG00000010311

Gene Name

opticin

Synonyms

MMRRC Submission

041927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133824937-133835737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133825555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 324 (V324L)

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: V377L

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311
AA Change: V377L

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

possibly damaging
Transcript: ENSMUST00000149380
AA Change: V324L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311
AA Change: V324L

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

possibly damaging
Transcript: ENSMUST00000153617
AA Change: V324L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311
AA Change: V324L

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Disp1	T	C	1: 182,880,215 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,935,743 (GRCm39)	M624L	probably damaging	Het
Elf2	A	G	3: 51,163,855 (GRCm39)	V558A	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Pigt	T	C	2: 164,339,498 (GRCm39)		probably benign	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rasal2	A	G	1: 157,071,231 (GRCm39)	F41S	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc27a3	T	C	3: 90,294,953 (GRCm39)	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		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
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
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'- CGAAATGCAAATTAAGTGGCTG -3'
(R):5'- TGCTGCTCCTTCCAGAATAAC -3'

Sequencing Primer
(F):5'- CTGAAGGCCCTGTCTGTCTG -3'
(R):5'- TGCTCCTTCCAGAATAACATGATCG -3'

Posted On

2015-10-08