Mutagenetix > Incidental Mutation

Incidental Mutation 'R5968:Crb1'

470684

Institutional Source

Beutler Lab

Gene Symbol

Crb1

Ensembl Gene

ENSMUSG00000063681

Gene Name

crumbs family member 1, photoreceptor morphogenesis associated

Synonyms

A930008G09Rik, 7530426H14Rik

MMRRC Submission

043249-MU

Accession Numbers

Essential gene?

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

Stock #

R5968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139124794-139304838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139170739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 823 (C823R)

Ref Sequence

ENSEMBL: ENSMUSP00000142552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059825] [ENSMUST00000196402] [ENSMUST00000198445]

AlphaFold

Q8VHS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059825
AA Change: C884R

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

SMART Domains

Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: C884R

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 benign
Transcript: ENSMUST00000196402

SMART Domains

Protein: ENSMUSP00000142702
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198445
AA Change: C823R

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

SMART Domains

Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: C823R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199291

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,077 (GRCm39)	T978A	probably benign	Het
Adcy9	A	G	16: 4,116,606 (GRCm39)	L638P	probably damaging	Het
Adgrf2	A	G	17: 43,026,063 (GRCm39)		probably null	Het
Anxa6	T	C	11: 54,885,167 (GRCm39)	I461V	probably damaging	Het
Arap1	T	C	7: 101,043,945 (GRCm39)	L668P	probably damaging	Het
Ces2e	G	T	8: 105,659,627 (GRCm39)	G498W	probably damaging	Het
Ehmt1	C	T	2: 24,726,469 (GRCm39)	R772H	probably damaging	Het
Enpep	A	G	3: 129,074,587 (GRCm39)	L721S	probably benign	Het
Flii	T	G	11: 60,611,038 (GRCm39)	I464L	probably benign	Het
Gm57858	T	C	3: 36,064,840 (GRCm39)	Q511R	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ift172	T	C	5: 31,418,828 (GRCm39)	E1162G	probably damaging	Het
Meioc	A	G	11: 102,566,657 (GRCm39)	S758G	probably damaging	Het
Ndst1	A	C	18: 60,846,148 (GRCm39)	S54A	probably benign	Het
Ndufaf8	G	T	11: 119,990,055 (GRCm39)	E56*	probably null	Het
Ndufb7	A	G	8: 84,293,530 (GRCm39)	D28G	probably benign	Het
Or1e16	T	C	11: 73,286,018 (GRCm39)	M277V	possibly damaging	Het
Or2a25	A	G	6: 42,888,480 (GRCm39)	I8V	probably benign	Het
Prkg1	A	T	19: 30,570,324 (GRCm39)	F443I	probably damaging	Het
Pspc1	C	T	14: 57,001,693 (GRCm39)	R227H	probably benign	Het
Ptpn21	A	G	12: 98,677,149 (GRCm39)	Y120H	probably damaging	Het
Runx1t1	A	T	4: 13,841,890 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,477,394 (GRCm39)	D4449G	probably benign	Het
Sacs	C	A	14: 61,427,078 (GRCm39)	A159E	probably damaging	Het
Slc16a14	T	C	1: 84,890,226 (GRCm39)	I360V	possibly damaging	Het
Tcstv5	T	C	13: 120,411,618 (GRCm39)		probably benign	Het
Thop1	A	G	10: 80,911,393 (GRCm39)	D93G	probably benign	Het
Tmem92	A	C	11: 94,669,564 (GRCm39)	M85R	probably benign	Het
Ttn	T	C	2: 76,688,017 (GRCm39)		probably benign	Het
Zdhhc5	T	C	2: 84,524,719 (GRCm39)		probably null	Het
Zfp335	T	C	2: 164,734,314 (GRCm39)	H1291R	probably damaging	Het
Zfp957	C	T	14: 79,451,496 (GRCm39)	C101Y	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
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
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

PCR Primer
(F):5'- GGTAGGGCATCAGCATTTTG -3'
(R):5'- GTCATCTTCATTGGTGGCTTAC -3'

Sequencing Primer
(F):5'- CAAGTTCAAATCCATTCTGGGC -3'
(R):5'- GGTGGCTTACCTGACAGAG -3'

Posted On

2017-03-31