Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Optc'

228011

Institutional Source

Beutler Lab

Gene Symbol

Optc

Ensembl Gene

ENSMUSG00000010311

Gene Name

opticin

Synonyms

MMRRC Submission

040134-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not 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: 98.6%
10x: 97.3%
20x: 95.0%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,261,874 (GRCm39)	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,227,802 (GRCm39)	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Ampd1	G	T	3: 103,002,194 (GRCm39)		probably null	Het
Ankrd16	T	A	2: 11,788,506 (GRCm39)	D211E	probably 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
Apc	C	A	18: 34,445,098 (GRCm39)	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,835,301 (GRCm39)	N747S	probably damaging	Het
Arsk	A	T	13: 76,239,931 (GRCm39)	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726 (GRCm39)	F1001I	probably benign	Het
Bap1	T	A	14: 30,980,288 (GRCm39)	Y645*	probably null	Het
Brca2	A	G	5: 150,480,594 (GRCm39)	Y2760C	probably damaging	Het
Cad	T	A	5: 31,215,416 (GRCm39)	F76I	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Cdkn2c	A	C	4: 109,522,260 (GRCm39)	N28K	probably null	Het
Celsr1	T	A	15: 85,847,424 (GRCm39)	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Cldn1	G	C	16: 26,190,300 (GRCm39)	A26G	probably damaging	Het
Col20a1	T	A	2: 180,634,366 (GRCm39)	F110L	probably damaging	Het
Creg2	T	C	1: 39,664,146 (GRCm39)	N204S	probably benign	Het
Cx3cl1	C	A	8: 95,506,201 (GRCm39)	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,176,958 (GRCm39)	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,520,135 (GRCm39)	I456F	probably damaging	Het
Dapk1	A	G	13: 60,877,345 (GRCm39)	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,909,481 (GRCm39)	W1365R	possibly damaging	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Depdc5	T	A	5: 33,148,125 (GRCm39)	L1469*	probably null	Het
Dnah3	T	A	7: 119,566,982 (GRCm39)	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,842,750 (GRCm39)	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Eya1	A	G	1: 14,241,198 (GRCm39)	V573A	probably benign	Het
Fam171b	T	A	2: 83,710,202 (GRCm39)	S625T	probably damaging	Het
Fam186a	T	C	15: 99,831,557 (GRCm39)		probably benign	Het
Gabra4	G	T	5: 71,798,567 (GRCm39)	D137E	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gm43302	T	C	5: 105,422,610 (GRCm39)	D474G	probably damaging	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Gpr19	T	C	6: 134,847,405 (GRCm39)	M1V	probably null	Het
Hnf4a	T	A	2: 163,389,338 (GRCm39)	N29K	probably benign	Het
Htt	A	G	5: 35,034,453 (GRCm39)	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Il4i1	G	A	7: 44,489,494 (GRCm39)	V420M	probably damaging	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
Jmjd4	A	T	11: 59,345,781 (GRCm39)	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,314,256 (GRCm39)	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483 (GRCm39)	L1228P	probably benign	Het
Klra3	A	G	6: 130,312,738 (GRCm39)	S9P	probably benign	Het
Ldhd	C	T	8: 112,355,169 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmo7	A	T	14: 102,137,674 (GRCm39)	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,672,708 (GRCm39)	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,599,781 (GRCm39)	F453I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcpt8	T	C	14: 56,319,740 (GRCm39)	I237V	probably damaging	Het
Med4	A	G	14: 73,755,436 (GRCm39)	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,884 (GRCm39)	L269F	probably damaging	Het
Mib2	C	T	4: 155,739,695 (GRCm39)		probably null	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mnx1	T	A	5: 29,679,187 (GRCm39)	S299C	unknown	Het
Nbr1	T	A	11: 101,457,017 (GRCm39)		probably null	Het
Ncapd3	T	G	9: 26,994,642 (GRCm39)	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,731,943 (GRCm39)		probably null	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Oosp1	T	C	19: 11,668,314 (GRCm39)	D23G	probably damaging	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or6c205	T	C	10: 129,086,943 (GRCm39)	F180S	probably benign	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Otog	A	T	7: 45,899,524 (GRCm39)	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,580,923 (GRCm39)	Q10K	probably benign	Het
Pcx	T	C	19: 4,652,579 (GRCm39)	F189L	probably benign	Het
Pde6b	A	G	5: 108,576,069 (GRCm39)	D718G	probably damaging	Het
Pklr	C	A	3: 89,049,967 (GRCm39)	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Plekho1	A	G	3: 95,896,429 (GRCm39)	S347P	probably damaging	Het
Plxna2	G	A	1: 194,327,058 (GRCm39)	D331N	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Prkra	A	T	2: 76,477,480 (GRCm39)	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,310,089 (GRCm39)	A31V	probably damaging	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,937,430 (GRCm39)	C947*	probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Sarm1	A	T	11: 78,366,133 (GRCm39)	C649S	probably benign	Het
Septin12	T	A	16: 4,809,643 (GRCm39)	Q223L	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,870,559 (GRCm39)	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246 (GRCm39)		probably null	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Spag6	T	A	2: 18,737,908 (GRCm39)	C259*	probably null	Het
Spata31e2	T	C	1: 26,724,935 (GRCm39)	R82G	probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Stk24	A	T	14: 121,539,623 (GRCm39)	I191N	probably damaging	Het
Tacc1	A	T	8: 25,654,509 (GRCm39)	N271K	probably damaging	Het
Tacc2	T	A	7: 130,223,587 (GRCm39)	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tbccd1	A	G	16: 22,660,739 (GRCm39)	S26P	probably benign	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
Tor1aip2	A	G	1: 155,941,095 (GRCm39)	Y467C	probably damaging	Het
Ttc9b	T	A	7: 27,353,774 (GRCm39)		probably null	Het
Tti1	T	C	2: 157,842,663 (GRCm39)	R789G	probably benign	Het
Ttn	A	T	2: 76,662,561 (GRCm39)		probably null	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube3d	A	T	9: 86,254,540 (GRCm39)		probably null	Het
Vav2	C	A	2: 27,189,408 (GRCm39)	R176L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr27	T	A	17: 15,148,594 (GRCm39)	D133V	probably damaging	Het
Zc3h7a	A	T	16: 10,968,469 (GRCm39)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,474,392 (GRCm39)	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,419,595 (GRCm39)	S38A	probably damaging	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
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'- CTGTAGAACTGCCTGGTGCTAG -3'
(R):5'- GTATGGAGTCGCTCAATGCTC -3'

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

Posted On

2014-09-17