Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Crb1'

644231

Institutional Source

Beutler Lab

Gene Symbol

Crb1

Ensembl Gene

ENSMUSG00000063681

Gene Name

crumbs family member 1, photoreceptor morphogenesis associated

Synonyms

A930008G09Rik, 7530426H14Rik

MMRRC Submission

067859-MU

Accession Numbers

Essential gene?

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

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139124794-139304838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139165005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1101 (I1101F)

Ref Sequence

ENSEMBL: ENSMUSP00000060769 (fasta)

Gene Model

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

AlphaFold

Q8VHS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059825
AA Change: I1101F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: I1101F

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: I1040F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: I1040F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,461,978 (GRCm39)		probably null	Het
Ackr4	A	G	9: 103,976,660 (GRCm39)	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376 (GRCm39)	I596T	possibly damaging	Het
Aff3	G	A	1: 38,244,135 (GRCm39)	R879W	probably benign	Het
Apob	A	G	12: 8,061,135 (GRCm39)	R3206G	probably damaging	Het
Atg7	T	A	6: 114,663,057 (GRCm39)	D224E	possibly damaging	Het
Capn12	T	C	7: 28,582,626 (GRCm39)	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,233,848 (GRCm39)	V224G	probably damaging	Het
Ces4a	G	A	8: 105,874,714 (GRCm39)	V452I	probably damaging	Het
Cherp	G	A	8: 73,215,852 (GRCm39)	R834C		Het
Clptm1l	T	A	13: 73,760,547 (GRCm39)	I310N	probably damaging	Het
Cog3	A	T	14: 75,978,003 (GRCm39)	D230E	probably damaging	Het
Cts6	A	T	13: 61,343,282 (GRCm39)	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,174,906 (GRCm39)	C435*	probably null	Het
Defb13	A	G	8: 22,438,562 (GRCm39)	E40G	probably benign	Het
Dis3l	T	C	9: 64,219,112 (GRCm39)	D606G	possibly damaging	Het
Dop1b	T	C	16: 93,568,675 (GRCm39)	L1579P	probably damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gcn1	G	A	5: 115,747,921 (GRCm39)	G1776E	probably damaging	Het
Gls2	A	G	10: 128,037,154 (GRCm39)	T232A	probably benign	Het
Gprc6a	A	T	10: 51,503,355 (GRCm39)	Y169*	probably null	Het
Guca2b	T	C	4: 119,516,001 (GRCm39)	S18G	unknown	Het
Hars2	A	G	18: 36,922,288 (GRCm39)	D301G	possibly damaging	Het
Haus5	T	A	7: 30,358,984 (GRCm39)	Q226L	possibly damaging	Het
Hc	G	A	2: 34,902,910 (GRCm39)		probably null	Het
Hivep2	T	C	10: 14,004,011 (GRCm39)	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,899,543 (GRCm39)	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,498,661 (GRCm39)	R3L	probably benign	Het
Hspa8	T	G	9: 40,713,897 (GRCm39)	I130S	probably damaging	Het
Ier5l	C	A	2: 30,362,861 (GRCm39)	C388F	possibly damaging	Het
Ldc1	C	T	4: 130,109,156 (GRCm39)	V295M	possibly damaging	Het
Lmx1a	A	G	1: 167,517,372 (GRCm39)	N10S	probably benign	Het
Map2	T	C	1: 66,454,272 (GRCm39)	I1054T	probably benign	Het
Me1	C	T	9: 86,501,790 (GRCm39)	D268N	probably damaging	Het
Muc6	G	A	7: 141,226,525 (GRCm39)	P1501S	unknown	Het
Myo1d	T	C	11: 80,528,900 (GRCm39)	M641V	probably benign	Het
Nuggc	G	A	14: 65,878,731 (GRCm39)	R667K	probably benign	Het
Oprl1	T	A	2: 181,360,717 (GRCm39)	C231S	probably damaging	Het
Or11g26	T	C	14: 50,753,015 (GRCm39)	F118S	probably damaging	Het
Or13p10	A	C	4: 118,523,604 (GRCm39)	N297H	probably damaging	Het
Pard3b	C	A	1: 62,676,957 (GRCm39)	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,017,283 (GRCm39)	Y158C	probably damaging	Het
Prune2	T	G	19: 17,098,629 (GRCm39)	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,712,110 (GRCm39)	T158K	probably damaging	Het
Rbm42	T	A	7: 30,344,582 (GRCm39)	E227V	unknown	Het
Ripor3	T	C	2: 167,825,119 (GRCm39)	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,492,855 (GRCm39)	H3764L	possibly damaging	Het
Sbno2	T	C	10: 79,900,221 (GRCm39)	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,365,030 (GRCm39)	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,039,409 (GRCm39)	L73P	probably damaging	Het
Spag16	T	C	1: 69,934,407 (GRCm39)	I278T	probably benign	Het
Stx18	T	A	5: 38,285,450 (GRCm39)	L274*	probably null	Het
Terb1	A	T	8: 105,211,003 (GRCm39)	N341K	probably damaging	Het
Timm29	A	G	9: 21,505,001 (GRCm39)	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,369,665 (GRCm39)	M370L	probably benign	Het
Tmtc3	T	A	10: 100,283,296 (GRCm39)	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,832 (GRCm39)	C699*	probably null	Het
Trav5d-4	G	A	14: 53,239,208 (GRCm39)	W13*	probably null	Het
Trdn	A	G	10: 33,320,074 (GRCm39)		probably null	Het
Tsg101	A	T	7: 46,558,808 (GRCm39)	Y68N	probably damaging	Het
Ttn	A	G	2: 76,664,062 (GRCm39)	V11649A	unknown	Het
Wnk2	A	T	13: 49,248,914 (GRCm39)	V379D	probably damaging	Het
Xpnpep1	A	G	19: 52,990,903 (GRCm39)		probably null	Het
Yme1l1	C	T	2: 23,054,597 (GRCm39)	Q139*	probably null	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
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
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

PCR Primer
(F):5'- TTCACAGTGTGTCCCTGACC -3'
(R):5'- TCCATGATAGACCCAGTGGC -3'

Sequencing Primer
(F):5'- CCGATAAGAACTGTAGCTGTCTTCAC -3'
(R):5'- GATAGACCCAGTGGCCCAGAC -3'

Posted On

2020-09-02