Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Crb1'

453462

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?

Possibly non essential (E-score: 0.303) question?

Stock #

IGL02988 (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

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	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
IGL02991:Crb1	UTSW	1	139,164,824 (GRCm39)	frame shift	probably null
IGL02991:Crb1	UTSW	1	139,164,822 (GRCm39)	frame shift	probably null
IGL03014:Crb1	UTSW	1	139,164,824 (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

2017-02-08