Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Optc'

227900

Institutional Source

Beutler Lab

Gene Symbol

Optc

Ensembl Gene

ENSMUSG00000010311

Gene Name

opticin

Synonyms

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133824937-133835737 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 133831534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000124051

SMART Domains

Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311

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 null
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 null
Transcript: ENSMUST00000149380

SMART Domains

Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311

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 null
Transcript: ENSMUST00000153617

SMART Domains

Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311

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

noncoding transcript
Transcript: ENSMUST00000160564

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
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
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'- ACTGCCTGGTGCTAGCTTAAG -3'
(R):5'- CATCTGTGTATGGAGTCGCTC -3'

Sequencing Primer
(F):5'- CCATGCGTGACCTATGAATACTGTG -3'
(R):5'- GCTCAATGCTCTGCTCGATAAGG -3'

Posted On

2014-09-17