Mutagenetix > Incidental Mutation

Incidental Mutation 'R5754:Crb1'

458197

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 #

R5754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139124794-139304838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139159337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1295 (Y1295C)

Ref Sequence

ENSEMBL: ENSMUSP00000142552 (fasta)

Gene Model

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

AlphaFold

Q8VHS2

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000198445
AA Change: Y1295C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: Y1295C

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,984,320 (GRCm39)	N683K	probably benign	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Bltp2	T	C	11: 78,160,367 (GRCm39)	S609P	probably damaging	Het
Camk1d	G	T	2: 5,449,908 (GRCm39)	P91Q	probably benign	Het
Camk1d	G	C	2: 5,449,910 (GRCm39)	S90R	probably damaging	Het
Card11	T	C	5: 140,885,524 (GRCm39)	E345G	probably damaging	Het
Ccpg1	G	T	9: 72,920,526 (GRCm39)	V714L	possibly damaging	Het
Chst9	T	C	18: 15,586,254 (GRCm39)	E103G	possibly damaging	Het
Cnga1	C	T	5: 72,762,615 (GRCm39)	V300I	probably benign	Het
Dnah5	A	G	15: 28,402,014 (GRCm39)	T3392A	probably benign	Het
Elp3	C	A	14: 65,785,439 (GRCm39)	R473L	probably damaging	Het
Epgn	T	A	5: 91,181,807 (GRCm39)	I145N	probably benign	Het
Fam107b	G	A	2: 3,779,457 (GRCm39)	G220D	probably damaging	Het
Fbn2	A	G	18: 58,257,383 (GRCm39)	V328A	probably benign	Het
Fn1	A	T	1: 71,639,481 (GRCm39)	I1770N	probably damaging	Het
Fndc1	T	A	17: 7,988,585 (GRCm39)	Y1159F	unknown	Het
Frem2	A	G	3: 53,444,679 (GRCm39)	L2484P	probably damaging	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf3c1	A	T	7: 125,243,237 (GRCm39)	V1789D	possibly damaging	Het
Hmgcl	T	C	4: 135,677,898 (GRCm39)	V33A	probably damaging	Het
Ighv7-1	A	G	12: 113,860,239 (GRCm39)	F51S	probably damaging	Het
Kcna6	A	G	6: 126,716,688 (GRCm39)	L67P	probably damaging	Het
Lamc1	A	T	1: 153,123,030 (GRCm39)	V720E	probably benign	Het
Lrch1	T	C	14: 75,054,558 (GRCm39)	D312G	probably damaging	Het
Mix23	A	G	16: 35,905,427 (GRCm39)	N63S	probably benign	Het
Nav2	A	G	7: 49,206,794 (GRCm39)	T1540A	probably damaging	Het
Nisch	A	T	14: 30,913,373 (GRCm39)		probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Npc1l1	A	G	11: 6,177,839 (GRCm39)	Y524H	probably damaging	Het
Nrap	T	C	19: 56,377,916 (GRCm39)	T25A	possibly damaging	Het
Nusap1	A	G	2: 119,477,580 (GRCm39)	K363R	probably damaging	Het
Or5ar1	T	C	2: 85,671,656 (GRCm39)	T160A	probably damaging	Het
Or5b124	A	G	19: 13,611,357 (GRCm39)	E294G	probably damaging	Het
Or7e177	T	A	9: 20,212,390 (GRCm39)	L298Q	probably damaging	Het
Pde4d	T	C	13: 110,074,547 (GRCm39)	I384T	probably damaging	Het
Pkhd1	T	A	1: 20,593,875 (GRCm39)	R1413*	probably null	Het
Plcd3	T	A	11: 102,964,592 (GRCm39)	Y593F	possibly damaging	Het
Plxna1	A	T	6: 89,310,087 (GRCm39)	I1026N	possibly damaging	Het
Podxl	T	A	6: 31,501,329 (GRCm39)	I409F	probably damaging	Het
Polq	A	C	16: 36,837,625 (GRCm39)	Q179P	probably benign	Het
Pomt1	T	C	2: 32,137,602 (GRCm39)	V401A	probably damaging	Het
Qdpr	C	T	5: 45,596,727 (GRCm39)	G146S	probably damaging	Het
Shc4	T	A	2: 125,512,218 (GRCm39)	Q2L	probably damaging	Het
Skint8	T	A	4: 111,807,387 (GRCm39)	C358S	probably benign	Het
Smc5	T	C	19: 23,221,467 (GRCm39)	E354G	possibly damaging	Het
Snx30	T	C	4: 59,868,275 (GRCm39)	V129A	probably damaging	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spag6	T	A	2: 18,703,613 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,763,036 (GRCm39)	Y450N	probably benign	Het
Trip11	C	T	12: 101,851,924 (GRCm39)	W428*	probably null	Het
Umodl1	T	A	17: 31,213,761 (GRCm39)	V966E	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r72	T	C	7: 11,403,776 (GRCm39)	Y224C	probably damaging	Het
Whrn	A	G	4: 63,334,825 (GRCm39)	S748P	probably damaging	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,526,964 (GRCm39)	F954L	probably damaging	Het
Zfp456	A	T	13: 67,514,359 (GRCm39)	I449K	probably benign	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
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
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

2017-02-27