Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Crb1'

453295

Institutional Source

Beutler Lab

Gene Symbol

Crb1

Ensembl Gene

ENSMUSG00000063681

Gene Name

crumbs family member 1, photoreceptor morphogenesis associated

Synonyms

A930008G09Rik, 7530426H14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL03014 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

139124794-139304838 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CG to C at 139164824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142552 (fasta)

Gene Model

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

AlphaFold

Q8VHS2

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

96% (51/53)

MGI Phenotype

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
AW112010	A	G	19: 11,025,456 (GRCm39)		noncoding transcript	Het
Ccdc134	T	C	15: 82,014,306 (GRCm39)	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,329,861 (GRCm39)	V395F	probably damaging	Het
Cdh22	G	T	2: 164,954,331 (GRCm39)	S730*	probably null	Het
Cfap20dc	A	G	14: 8,431,608 (GRCm38)	*675Q	probably null	Het
Chrng	G	T	1: 87,138,759 (GRCm39)		probably null	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Csmd2	G	T	4: 128,190,222 (GRCm39)	M387I	probably benign	Het
Cux1	T	C	5: 136,594,379 (GRCm39)		probably benign	Het
D130043K22Rik	C	T	13: 25,042,075 (GRCm39)	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,174,351 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dsn1	A	T	2: 156,838,739 (GRCm39)	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,876,218 (GRCm39)	Y461C	probably damaging	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Fbln2	T	C	6: 91,242,901 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,420,393 (GRCm39)	Y1010F	probably damaging	Het
Igha	A	G	12: 113,222,713 (GRCm39)	V236A	unknown	Het
Igsf9b	T	C	9: 27,233,932 (GRCm39)	M377T	probably benign	Het
Itga9	A	G	9: 118,457,212 (GRCm39)	T108A	probably benign	Het
Kcna3	A	T	3: 106,945,206 (GRCm39)	M490L	probably benign	Het
Lama3	A	T	18: 12,673,024 (GRCm39)	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,931,371 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Odr4	C	A	1: 150,258,804 (GRCm39)		probably benign	Het
Or1a1b	G	A	11: 74,097,653 (GRCm39)	L130F	probably damaging	Het
Or51a39	A	T	7: 102,362,753 (GRCm39)	V289E	probably null	Het
Pex10	A	G	4: 155,155,076 (GRCm39)		probably benign	Het
Plcl2	G	A	17: 50,918,029 (GRCm39)	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,329,294 (GRCm39)	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,212,308 (GRCm39)	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,154,923 (GRCm39)	I41V	probably benign	Het
Scpep1	T	A	11: 88,824,271 (GRCm39)		probably null	Het
Sergef	T	C	7: 46,240,180 (GRCm39)	T288A	probably damaging	Het
Setdb1	G	A	3: 95,248,726 (GRCm39)	P397S	probably damaging	Het
Setx	T	A	2: 29,029,423 (GRCm39)	D230E	probably damaging	Het
Sin3a	C	A	9: 57,002,539 (GRCm39)		probably benign	Het
Smad5	T	C	13: 56,883,754 (GRCm39)	L380P	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,532,675 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,715,500 (GRCm39)	D346G	probably benign	Het
Trav7d-4	T	A	14: 53,007,353 (GRCm39)	W12R	unknown	Het
Trmt1l	G	T	1: 151,333,681 (GRCm39)	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,458,198 (GRCm39)	T559K	probably damaging	Het
Vmn1r72	T	A	7: 11,403,711 (GRCm39)	I246F	possibly damaging	Het
Zfp618	A	T	4: 62,998,325 (GRCm39)	Q109L	probably damaging	Het

Other mutations in Crb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Crb1	APN	1	139,250,983 (GRCm39)	missense	probably benign	0.16
IGL01591:Crb1	APN	1	139,165,077 (GRCm39)	missense	probably damaging	1.00
IGL01644:Crb1	APN	1	139,165,368 (GRCm39)	nonsense	probably null
IGL01769:Crb1	APN	1	139,264,806 (GRCm39)	missense	probably damaging	1.00
IGL02172:Crb1	APN	1	139,164,965 (GRCm39)	missense	probably damaging	1.00
IGL02294:Crb1	APN	1	139,162,520 (GRCm39)	missense	possibly damaging	0.89
IGL02382:Crb1	APN	1	139,165,352 (GRCm39)	missense	probably damaging	0.99
IGL02411:Crb1	APN	1	139,176,213 (GRCm39)	missense	probably damaging	1.00
IGL03070:Crb1	APN	1	139,168,996 (GRCm39)	missense	possibly damaging	0.79
IGL02984:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL02988:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL02991:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL02991:Crb1	UTSW	1	139,164,822 (GRCm39)	frame shift	probably null
IGL03050:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03054:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03055:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03097:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03098:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03134:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03138:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL03147:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
P0017:Crb1	UTSW	1	139,176,678 (GRCm39)	missense	possibly damaging	0.64
R0276:Crb1	UTSW	1	139,251,073 (GRCm39)	missense	possibly damaging	0.85
R0325:Crb1	UTSW	1	139,168,904 (GRCm39)	missense	probably damaging	1.00
R0401:Crb1	UTSW	1	139,126,529 (GRCm39)	splice site	probably benign
R0479:Crb1	UTSW	1	139,126,352 (GRCm39)	missense	probably damaging	0.98
R0734:Crb1	UTSW	1	139,264,822 (GRCm39)	missense	probably benign	0.25
R1573:Crb1	UTSW	1	139,265,344 (GRCm39)	missense	probably damaging	1.00
R1728:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1728:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1728:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1728:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1728:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1729:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1729:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1729:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1729:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1729:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1730:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1730:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1730:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1730:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1730:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1739:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1739:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1739:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1739:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1739:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1762:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1762:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1762:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1762:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1762:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1762:Crb1	UTSW	1	139,165,269 (GRCm39)	missense	probably damaging	1.00
R1783:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1783:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1783:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1783:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1783:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1784:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1784:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1784:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1784:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1784:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1785:Crb1	UTSW	1	139,170,733 (GRCm39)	missense	probably damaging	1.00
R1785:Crb1	UTSW	1	139,171,155 (GRCm39)	missense	probably benign	0.00
R1785:Crb1	UTSW	1	139,162,517 (GRCm39)	missense	probably benign
R1785:Crb1	UTSW	1	139,165,360 (GRCm39)	missense	probably benign	0.00
R1785:Crb1	UTSW	1	139,168,876 (GRCm39)	missense	probably damaging	1.00
R1848:Crb1	UTSW	1	139,164,750 (GRCm39)	missense	probably damaging	0.97
R1894:Crb1	UTSW	1	139,170,931 (GRCm39)	missense	probably benign	0.02
R2057:Crb1	UTSW	1	139,242,488 (GRCm39)	missense	probably damaging	1.00
R2136:Crb1	UTSW	1	139,265,163 (GRCm39)	missense	probably benign	0.03
R2140:Crb1	UTSW	1	139,164,750 (GRCm39)	missense	probably benign	0.01
R2363:Crb1	UTSW	1	139,265,016 (GRCm39)	missense	possibly damaging	0.89
R3605:Crb1	UTSW	1	139,165,077 (GRCm39)	missense	probably damaging	1.00
R3817:Crb1	UTSW	1	139,175,835 (GRCm39)	missense	probably benign
R3942:Crb1	UTSW	1	139,265,211 (GRCm39)	missense	possibly damaging	0.49
R4272:Crb1	UTSW	1	139,251,049 (GRCm39)	missense	probably benign	0.04
R4301:Crb1	UTSW	1	139,176,568 (GRCm39)	missense	probably benign	0.01
R4403:Crb1	UTSW	1	139,176,117 (GRCm39)	missense	probably benign	0.00
R4700:Crb1	UTSW	1	139,126,509 (GRCm39)	missense	probably damaging	0.96
R4771:Crb1	UTSW	1	139,255,942 (GRCm39)	missense	probably damaging	1.00
R4845:Crb1	UTSW	1	139,170,772 (GRCm39)	missense	probably benign	0.06
R4867:Crb1	UTSW	1	139,170,752 (GRCm39)	missense	probably damaging	1.00
R5159:Crb1	UTSW	1	139,170,756 (GRCm39)	missense	probably damaging	0.99
R5270:Crb1	UTSW	1	139,164,602 (GRCm39)	missense	probably damaging	0.97
R5347:Crb1	UTSW	1	139,265,109 (GRCm39)	missense	probably damaging	1.00
R5513:Crb1	UTSW	1	139,164,559 (GRCm39)	critical splice donor site	probably null
R5641:Crb1	UTSW	1	139,176,627 (GRCm39)	missense	probably damaging	0.99
R5754:Crb1	UTSW	1	139,159,337 (GRCm39)	missense	probably damaging	1.00
R5968:Crb1	UTSW	1	139,170,739 (GRCm39)	missense	probably damaging	1.00
R6122:Crb1	UTSW	1	139,176,686 (GRCm39)	nonsense	probably null
R6369:Crb1	UTSW	1	139,165,200 (GRCm39)	missense	probably damaging	1.00
R6809:Crb1	UTSW	1	139,170,864 (GRCm39)	missense	probably benign	0.00
R7020:Crb1	UTSW	1	139,159,341 (GRCm39)	missense	possibly damaging	0.85
R7072:Crb1	UTSW	1	139,165,013 (GRCm39)	missense	probably damaging	1.00
R7073:Crb1	UTSW	1	139,176,049 (GRCm39)	missense	probably damaging	0.99
R7135:Crb1	UTSW	1	139,171,105 (GRCm39)	missense	probably damaging	0.97
R7493:Crb1	UTSW	1	139,164,768 (GRCm39)	missense	probably damaging	1.00
R7539:Crb1	UTSW	1	139,175,967 (GRCm39)	missense	probably damaging	1.00
R7554:Crb1	UTSW	1	139,265,019 (GRCm39)	missense	probably damaging	1.00
R7593:Crb1	UTSW	1	139,164,978 (GRCm39)	missense	probably damaging	1.00
R7740:Crb1	UTSW	1	139,165,428 (GRCm39)	missense	probably benign	0.01
R7912:Crb1	UTSW	1	139,170,909 (GRCm39)	missense	probably damaging	1.00
R8036:Crb1	UTSW	1	139,165,122 (GRCm39)	missense	probably benign	0.07
R8042:Crb1	UTSW	1	139,242,392 (GRCm39)	missense	probably damaging	0.99
R8329:Crb1	UTSW	1	139,165,005 (GRCm39)	missense	probably damaging	1.00
R8332:Crb1	UTSW	1	139,165,152 (GRCm39)	missense	probably damaging	0.96
R8880:Crb1	UTSW	1	139,164,886 (GRCm39)	missense	probably benign	0.19
R8894:Crb1	UTSW	1	139,175,750 (GRCm39)	missense	possibly damaging	0.95
R9052:Crb1	UTSW	1	139,171,161 (GRCm39)	missense	possibly damaging	0.50
R9138:Crb1	UTSW	1	139,162,468 (GRCm39)	missense
R9209:Crb1	UTSW	1	139,171,051 (GRCm39)	missense	probably damaging	0.98
R9567:Crb1	UTSW	1	139,171,208 (GRCm39)	missense	probably benign	0.04
X0066:Crb1	UTSW	1	139,175,983 (GRCm39)	missense	probably benign	0.10
Z1176:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
Z1177:Crb1	UTSW	1	139,264,766 (GRCm39)	critical splice donor site	probably null
Z1177:Crb1	UTSW	1	139,176,639 (GRCm39)	missense	possibly damaging	0.80
Z1177:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null

Predicted Primers

Posted On

2017-02-01