Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02991:Crb1'

452899

Institutional Source

Beutler Lab

Gene Symbol

Crb1

Ensembl Gene

ENSMUSG00000063681

Gene Name

crumbs family member 1, photoreceptor morphogenesis associated

Synonyms

7530426H14Rik, A930008G09Rik

Accession Numbers

Ncbi RefSeq: NM_133239.2; MGI: 2136343

Is this an essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

IGL02991 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

139197056-139377100 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CG to C at 139237086 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059825] [ENSMUST00000198445]

Predicted Effect

probably null
Transcript: ENSMUST00000059825

SMART Domains

Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
EGF	72	107	5.97e-4	SMART
EGF	112	145	9.19e-5	SMART
EGF_CA	147	183	2.89e-11	SMART
EGF_CA	185	221	1.14e-9	SMART
EGF_CA	223	259	2.26e-13	SMART
EGF_CA	261	298	5.15e-8	SMART
EGF	303	336	8.12e-6	SMART
EGF	341	394	2.6e-4	SMART
EGF_CA	396	438	2.54e-7	SMART
EGF	443	480	1.47e-3	SMART
LamG	505	650	1.75e-9	SMART
EGF	674	707	6.5e-5	SMART
LamG	734	859	1.05e-7	SMART
EGF	889	922	1.19e-3	SMART
LamG	971	1104	6.85e-12	SMART
EGF	1141	1174	7.07e-6	SMART
EGF_CA	1176	1211	3.01e-9	SMART
EGF	1216	1249	3.57e-2	SMART
EGF	1257	1294	6.92e0	SMART
EGF_CA	1296	1332	4.19e-8	SMART
transmembrane domain	1346	1368	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000198445

SMART Domains

Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
EGF	72	107	5.97e-4	SMART
EGF	112	145	9.19e-5	SMART
EGF_CA	147	183	2.89e-11	SMART
EGF_CA	185	221	1.14e-9	SMART
EGF_CA	223	259	2.26e-13	SMART
EGF_CA	261	298	5.15e-8	SMART
EGF	303	333	1.63e1	SMART
EGF_CA	335	377	2.54e-7	SMART
EGF	382	419	1.47e-3	SMART
LamG	444	589	1.75e-9	SMART
EGF	613	646	6.5e-5	SMART
LamG	673	798	1.05e-7	SMART
EGF	828	861	1.19e-3	SMART
LamG	910	1043	6.85e-12	SMART
EGF	1080	1113	7.07e-6	SMART
EGF_CA	1115	1150	3.01e-9	SMART
EGF	1155	1188	3.57e-2	SMART
EGF	1196	1233	6.92e0	SMART
EGF_CA	1235	1271	4.19e-8	SMART
low complexity region	1282	1296	N/A	INTRINSIC

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (73/77)

MGI Phenotype

Strain: 3052072; 2676366
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygotes for a null allele show focal retinal lesions, loss of adherens junctions between photoreceptors and Muller glia cells, and light-accelerated retinal degeneration. Homozygotes for a spontaneous allele show background-sensitive retinal spotting, photoreceptor dysplasia and degeneration. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(4) Spontaneous(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
Adam23	T	C	1: 63,547,819		probably null	Het
Aptx	C	A	4: 40,686,687	G199C	probably damaging	Het
Asap2	T	C	12: 21,249,293		probably benign	Het
Atp11b	A	G	3: 35,826,991	T566A	probably benign	Het
Bcas3	C	T	11: 85,457,887	Q202*	probably null	Het
Cacna1h	C	A	17: 25,391,312	R740L	possibly damaging	Het
Casp8	T	A	1: 58,827,279	N146K	probably benign	Het
Ccdc63	T	C	5: 122,108,212	M549V	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh20	T	C	1: 104,934,247	S51P	probably benign	Het
Chd7	T	C	4: 8,828,398	M1113T	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Cxcl11	C	T	5: 92,361,310	R28H	probably damaging	Het
Defb40	C	T	8: 18,975,103	C29Y	probably damaging	Het
Fam105a	T	C	15: 27,658,302	S211G	possibly damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fen1	A	T	19: 10,200,662	D139E	probably benign	Het
Frem3	A	G	8: 80,668,882	E1846G	probably damaging	Het
Gria2	T	A	3: 80,707,809	K455*	probably null	Het
Hmcn1	A	T	1: 150,738,658	N1332K	possibly damaging	Het
Htr5b	C	T	1: 121,528,027	V55M	probably benign	Het
Ighv6-5	A	T	12: 114,416,695	N86K	probably benign	Het
Il4ra	T	C	7: 125,575,661	V347A	possibly damaging	Het
Itih5	A	G	2: 10,251,351	E876G	probably benign	Het
Itpkb	A	T	1: 180,327,714		probably benign	Het
Lbr	T	C	1: 181,821,552	Y334C	probably damaging	Het
Lrfn2	T	C	17: 49,070,704	L271P	probably damaging	Het
Lss	T	A	10: 76,543,911		probably benign	Het
Map1a	T	C	2: 121,301,610	V731A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mob3b	T	A	4: 35,083,805	Q128L	probably benign	Het
Mog	T	C	17: 37,023,199	M1V	probably null	Het
Mrpl4	A	G	9: 21,008,605	Y284C	probably damaging	Het
Mtus2	T	G	5: 148,313,500	V310G	probably damaging	Het
Mup11	ACAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCA	4: 60,662,276		probably benign	Het
Olfr972	T	A	9: 39,874,066	S264T	probably benign	Het
Olfr979	T	C	9: 40,000,402	Y275C	probably damaging	Het
Orc3	T	G	4: 34,593,083	Q328P	probably damaging	Het
Pcdhb20	G	T	18: 37,506,211	G597C	probably damaging	Het
Pdxdc1	A	G	16: 13,857,396	I334T	probably damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Proz	G	A	8: 13,073,490	E254K	probably benign	Het
Psma6	T	C	12: 55,407,572		probably benign	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Ryr2	A	G	13: 11,761,306	V1115A	probably damaging	Het
Sfxn5	G	T	6: 85,289,208	N102K	possibly damaging	Het
Sgo2a	G	T	1: 58,015,355		probably benign	Het
Slc14a2	A	T	18: 78,205,834	M1K	probably null	Het
Spag5	T	A	11: 78,314,251	L621M	probably damaging	Het
Spata31	A	G	13: 64,920,719	Y227C	probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Supt6	T	C	11: 78,225,353	E728G	probably damaging	Het
Sympk	T	A	7: 19,030,577	L69Q	probably damaging	Het
Timd4	T	A	11: 46,842,147		probably benign	Het
Trh	G	A	6: 92,243,738	R48W	probably damaging	Het
Trip12	C	A	1: 84,738,815	D383Y	probably damaging	Het
Tspo2	T	A	17: 48,449,986	I23F	possibly damaging	Het
Tspyl5	A	G	15: 33,686,843	S319P	probably damaging	Het
Ttc25	A	G	11: 100,553,872	S285G	probably benign	Het
Txlnb	A	G	10: 17,841,453	K403E	probably damaging	Het
Vmn2r34	C	A	7: 7,672,721	C556F	probably damaging	Het
Vps13c	C	A	9: 67,913,877	A1223E	probably damaging	Het

Other mutations in Crb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Crb1	APN	1	139323245	missense	probably benign	0.16
IGL01591:Crb1	APN	1	139237339	missense	probably damaging	1.00
IGL01644:Crb1	APN	1	139237630	nonsense	probably null
IGL01769:Crb1	APN	1	139337068	missense	probably damaging	1.00
IGL02172:Crb1	APN	1	139237227	missense	probably damaging	1.00
IGL02294:Crb1	APN	1	139234782	missense	possibly damaging	0.89
IGL02382:Crb1	APN	1	139237614	missense	probably damaging	0.99
IGL02411:Crb1	APN	1	139248475	missense	probably damaging	1.00
IGL03070:Crb1	APN	1	139241258	missense	possibly damaging	0.79
IGL02984:Crb1	UTSW	1	139237086	frame shift	probably null
IGL02988:Crb1	UTSW	1	139237086	frame shift	probably null
IGL02991:Crb1	UTSW	1	139237084	frame shift	probably null
IGL03014:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03050:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03054:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03055:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03097:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03098:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03134:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03138:Crb1	UTSW	1	139237086	frame shift	probably null
IGL03147:Crb1	UTSW	1	139237086	frame shift	probably null
P0017:Crb1	UTSW	1	139248940	missense	possibly damaging	0.64
R0276:Crb1	UTSW	1	139323335	missense	possibly damaging	0.85
R0325:Crb1	UTSW	1	139241166	missense	probably damaging	1.00
R0401:Crb1	UTSW	1	139198791	splice site	probably benign
R0479:Crb1	UTSW	1	139198614	missense	probably damaging	0.98
R0734:Crb1	UTSW	1	139337084	missense	probably benign	0.25
R1573:Crb1	UTSW	1	139337606	missense	probably damaging	1.00
R1728:Crb1	UTSW	1	139234779	missense	probably benign
R1728:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1728:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1728:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1728:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1729:Crb1	UTSW	1	139234779	missense	probably benign
R1729:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1729:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1729:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1729:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1730:Crb1	UTSW	1	139234779	missense	probably benign
R1730:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1730:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1730:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1730:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1739:Crb1	UTSW	1	139234779	missense	probably benign
R1739:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1739:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1739:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1739:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1762:Crb1	UTSW	1	139234779	missense	probably benign
R1762:Crb1	UTSW	1	139237531	missense	probably damaging	1.00
R1762:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1762:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1762:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1762:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1783:Crb1	UTSW	1	139234779	missense	probably benign
R1783:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1783:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1783:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1783:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1784:Crb1	UTSW	1	139234779	missense	probably benign
R1784:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1784:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1784:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1784:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1785:Crb1	UTSW	1	139234779	missense	probably benign
R1785:Crb1	UTSW	1	139237622	missense	probably benign	0.00
R1785:Crb1	UTSW	1	139241138	missense	probably damaging	1.00
R1785:Crb1	UTSW	1	139242995	missense	probably damaging	1.00
R1785:Crb1	UTSW	1	139243417	missense	probably benign	0.00
R1848:Crb1	UTSW	1	139237012	missense	probably damaging	0.97
R1894:Crb1	UTSW	1	139243193	missense	probably benign	0.02
R2057:Crb1	UTSW	1	139314750	missense	probably damaging	1.00
R2136:Crb1	UTSW	1	139337425	missense	probably benign	0.03
R2140:Crb1	UTSW	1	139237012	missense	probably benign	0.01
R2363:Crb1	UTSW	1	139337278	missense	possibly damaging	0.89
R3605:Crb1	UTSW	1	139237339	missense	probably damaging	1.00
R3817:Crb1	UTSW	1	139248097	missense	probably benign
R3942:Crb1	UTSW	1	139337473	missense	possibly damaging	0.49
R4272:Crb1	UTSW	1	139323311	missense	probably benign	0.04
R4301:Crb1	UTSW	1	139248830	missense	probably benign	0.01
R4403:Crb1	UTSW	1	139248379	missense	probably benign	0.00
R4700:Crb1	UTSW	1	139198771	missense	probably damaging	0.96
R4771:Crb1	UTSW	1	139328204	missense	probably damaging	1.00
R4845:Crb1	UTSW	1	139243034	missense	probably benign	0.06
R4867:Crb1	UTSW	1	139243014	missense	probably damaging	1.00
R5159:Crb1	UTSW	1	139243018	missense	probably damaging	0.99
R5270:Crb1	UTSW	1	139236864	missense	probably damaging	0.97
R5347:Crb1	UTSW	1	139337371	missense	probably damaging	1.00
R5513:Crb1	UTSW	1	139236821	critical splice donor site	probably null
R5641:Crb1	UTSW	1	139248889	missense	probably damaging	0.99
R5754:Crb1	UTSW	1	139231599	missense	probably damaging	1.00
R5968:Crb1	UTSW	1	139243001	missense	probably damaging	1.00
R6122:Crb1	UTSW	1	139248948	nonsense	probably null
R6369:Crb1	UTSW	1	139237462	missense	probably damaging	1.00
R6809:Crb1	UTSW	1	139243126	missense	probably benign	0.00
R7020:Crb1	UTSW	1	139231603	missense	possibly damaging	0.85
R7072:Crb1	UTSW	1	139237275	missense	probably damaging	1.00
R7073:Crb1	UTSW	1	139248311	missense	probably damaging	0.99
R7135:Crb1	UTSW	1	139243367	missense	probably damaging	0.97
R7493:Crb1	UTSW	1	139237030	missense	probably damaging	1.00
R7539:Crb1	UTSW	1	139248229	missense	probably damaging	1.00
R7554:Crb1	UTSW	1	139337281	missense	probably damaging	1.00
R7593:Crb1	UTSW	1	139237240	missense	probably damaging	1.00
R7740:Crb1	UTSW	1	139237690	missense	probably benign	0.01
R7912:Crb1	UTSW	1	139243171	missense	probably damaging	1.00
R8036:Crb1	UTSW	1	139237384	missense	probably benign	0.07
R8042:Crb1	UTSW	1	139314654	missense	probably damaging	0.99
R8329:Crb1	UTSW	1	139237267	missense	probably damaging	1.00
R8332:Crb1	UTSW	1	139237414	missense	probably damaging	0.96
X0066:Crb1	UTSW	1	139248245	missense	probably benign	0.10
Z1176:Crb1	UTSW	1	139237086	frame shift	probably null
Z1177:Crb1	UTSW	1	139237086	frame shift	probably null
Z1177:Crb1	UTSW	1	139248901	missense	possibly damaging	0.80
Z1177:Crb1	UTSW	1	139337028	critical splice donor site	probably null

Predicted Primers

Posted On

2017-01-24