Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00785:Crb2'

9884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00785

Quality Score

Status

Chromosome

Chromosomal Location

37666261-37689115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37682076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 819 (C819Y)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050372]

AlphaFold

Q80YA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050372
AA Change: C819Y

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

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: C819Y

Domain	Start	End	E-Value	Type
EGF	74	110	1.92e-7	SMART
EGF_CA	112	148	1.69e-12	SMART
EGF_CA	150	186	3.99e-14	SMART
EGF_CA	188	225	8.9e-12	SMART
EGF_CA	227	263	3.79e-6	SMART
EGF	268	322	1.32e-5	SMART
EGF_CA	324	360	5.96e-13	SMART
EGF_CA	362	398	2.54e-7	SMART
EGF	403	440	2.45e0	SMART
low complexity region	446	457	N/A	INTRINSIC
LamG	461	592	1.18e-6	SMART
EGF	612	645	4.59e-5	SMART
LamG	671	778	4.45e-2	SMART
EGF	813	846	5.2e-4	SMART
LamG	893	1019	1.68e-1	SMART
EGF	1056	1089	9.55e-3	SMART
EGF	1094	1127	9.85e-5	SMART
EGF	1134	1168	1.91e1	SMART
EGF	1173	1206	3.73e-5	SMART
transmembrane domain	1222	1244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137693

Predicted Effect

unknown
Transcript: ENSMUST00000147600
AA Change: C144Y

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous inactivation of this gene causes severe gastrulation defects, impaired somitogenesis and organogenesis. and complete embryonic death by E12.5. Several organ primordia, including neuroepithelium, gut, and heart, fail to form properly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cpt1a	T	A	19: 3,416,389 (GRCm39)	N313K	possibly damaging	Het
Ctnna3	T	G	10: 63,402,612 (GRCm39)	F108V	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fam120a	A	G	13: 49,042,609 (GRCm39)	S931P	probably benign	Het
Ganc	A	C	2: 120,272,079 (GRCm39)	Y579S	probably damaging	Het
Hsd17b12	A	G	2: 93,875,759 (GRCm39)	S189P	probably damaging	Het
Itprid2	A	G	2: 79,487,612 (GRCm39)	E565G	possibly damaging	Het
Kif11	C	A	19: 37,392,745 (GRCm39)	L559I	probably benign	Het
Kif11	T	C	19: 37,392,746 (GRCm39)	L559P	probably damaging	Het
Luc7l2	T	C	6: 38,575,721 (GRCm39)	S261P	possibly damaging	Het
Myo7a	T	C	7: 97,703,555 (GRCm39)	K2035E	probably damaging	Het
Nbea	A	G	3: 55,862,814 (GRCm39)	S1813P	probably benign	Het
Osbpl8	A	G	10: 111,108,905 (GRCm39)	T396A	probably benign	Het
Ppfibp2	A	G	7: 107,337,094 (GRCm39)	T560A	probably benign	Het
Rictor	A	C	15: 6,806,431 (GRCm39)	Q683P	probably damaging	Het
Ryr3	A	T	2: 112,666,448 (GRCm39)	H1519Q	possibly damaging	Het
Slc34a2	A	T	5: 53,222,950 (GRCm39)	I347F	probably benign	Het
Sned1	C	A	1: 93,201,891 (GRCm39)		probably benign	Het
St7l	A	G	3: 104,780,895 (GRCm39)		probably benign	Het
Trmu	T	A	15: 85,767,032 (GRCm39)	D80E	probably benign	Het
Trpv4	A	G	5: 114,766,686 (GRCm39)	V620A	probably damaging	Het
Ubr2	G	A	17: 47,255,791 (GRCm39)	T1370I	possibly damaging	Het
Xpo5	T	C	17: 46,515,618 (GRCm39)	V48A	probably damaging	Het
Zfp638	T	C	6: 83,906,146 (GRCm39)	W104R	probably damaging	Het

Other mutations in Crb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Crb2	APN	2	37,685,523 (GRCm39)	unclassified	probably benign
IGL01363:Crb2	APN	2	37,683,845 (GRCm39)	missense	probably benign	0.01
IGL02006:Crb2	APN	2	37,676,475 (GRCm39)	missense	probably damaging	1.00
IGL02380:Crb2	APN	2	37,673,447 (GRCm39)	missense	probably damaging	0.96
IGL02455:Crb2	APN	2	37,684,576 (GRCm39)	missense	possibly damaging	0.74
IGL03107:Crb2	APN	2	37,681,428 (GRCm39)	missense	probably benign	0.10
R1350:Crb2	UTSW	2	37,682,081 (GRCm39)	missense	probably damaging	1.00
R1353:Crb2	UTSW	2	37,677,293 (GRCm39)	missense	probably damaging	1.00
R1466:Crb2	UTSW	2	37,673,400 (GRCm39)	missense	probably damaging	1.00
R1466:Crb2	UTSW	2	37,673,400 (GRCm39)	missense	probably damaging	1.00
R1509:Crb2	UTSW	2	37,676,631 (GRCm39)	missense	probably benign	0.01
R1734:Crb2	UTSW	2	37,683,668 (GRCm39)	missense	probably damaging	1.00
R2006:Crb2	UTSW	2	37,673,446 (GRCm39)	missense	probably damaging	0.99
R2918:Crb2	UTSW	2	37,673,395 (GRCm39)	missense	probably benign	0.01
R3431:Crb2	UTSW	2	37,682,229 (GRCm39)	missense	probably benign	0.24
R3975:Crb2	UTSW	2	37,683,680 (GRCm39)	missense	possibly damaging	0.74
R4074:Crb2	UTSW	2	37,676,855 (GRCm39)	missense	probably damaging	1.00
R4518:Crb2	UTSW	2	37,680,401 (GRCm39)	missense	probably damaging	1.00
R4521:Crb2	UTSW	2	37,685,349 (GRCm39)	unclassified	probably benign
R4801:Crb2	UTSW	2	37,683,768 (GRCm39)	missense	probably benign	0.09
R4802:Crb2	UTSW	2	37,683,768 (GRCm39)	missense	probably benign	0.09
R4913:Crb2	UTSW	2	37,680,257 (GRCm39)	missense	probably benign
R4930:Crb2	UTSW	2	37,673,326 (GRCm39)	missense	probably damaging	1.00
R4947:Crb2	UTSW	2	37,685,343 (GRCm39)	unclassified	probably benign
R4959:Crb2	UTSW	2	37,680,482 (GRCm39)	missense	probably damaging	0.99
R5215:Crb2	UTSW	2	37,683,765 (GRCm39)	missense	probably benign	0.23
R5268:Crb2	UTSW	2	37,680,833 (GRCm39)	missense	probably damaging	1.00
R5446:Crb2	UTSW	2	37,685,461 (GRCm39)	missense	probably benign	0.16
R5739:Crb2	UTSW	2	37,683,666 (GRCm39)	missense	probably damaging	0.99
R5875:Crb2	UTSW	2	37,677,266 (GRCm39)	splice site	probably null
R6179:Crb2	UTSW	2	37,680,269 (GRCm39)	missense	probably damaging	1.00
R6450:Crb2	UTSW	2	37,683,838 (GRCm39)	missense	possibly damaging	0.91
R6569:Crb2	UTSW	2	37,682,163 (GRCm39)	missense	probably damaging	0.99
R6828:Crb2	UTSW	2	37,666,421 (GRCm39)	small deletion	probably benign
R7040:Crb2	UTSW	2	37,677,696 (GRCm39)	missense	probably benign	0.32
R7153:Crb2	UTSW	2	37,677,420 (GRCm39)	missense	probably benign	0.00
R7362:Crb2	UTSW	2	37,680,211 (GRCm39)	missense	probably benign	0.00
R7515:Crb2	UTSW	2	37,673,412 (GRCm39)	missense	probably damaging	1.00
R7519:Crb2	UTSW	2	37,683,332 (GRCm39)	missense	probably damaging	1.00
R7583:Crb2	UTSW	2	37,680,607 (GRCm39)	missense	probably benign	0.00
R7819:Crb2	UTSW	2	37,681,603 (GRCm39)	missense	probably benign	0.00
R8016:Crb2	UTSW	2	37,676,568 (GRCm39)	missense	possibly damaging	0.50
R8049:Crb2	UTSW	2	37,683,252 (GRCm39)	missense	probably benign	0.02
R8090:Crb2	UTSW	2	37,685,503 (GRCm39)	missense	probably damaging	1.00
R8907:Crb2	UTSW	2	37,685,395 (GRCm39)	missense	probably benign	0.00
R9010:Crb2	UTSW	2	37,680,698 (GRCm39)	missense	probably benign	0.01
R9291:Crb2	UTSW	2	37,682,213 (GRCm39)	missense	probably damaging	0.99
R9448:Crb2	UTSW	2	37,677,773 (GRCm39)	missense	probably benign	0.01
R9706:Crb2	UTSW	2	37,681,215 (GRCm39)	missense	probably damaging	0.98
R9714:Crb2	UTSW	2	37,681,215 (GRCm39)	missense	probably damaging	0.98
X0025:Crb2	UTSW	2	37,682,221 (GRCm39)	missense	probably damaging	1.00
Z1176:Crb2	UTSW	2	37,666,383 (GRCm39)	missense	probably benign
Z1177:Crb2	UTSW	2	37,680,836 (GRCm39)	missense	possibly damaging	0.71
Z1177:Crb2	UTSW	2	37,677,377 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06