Mutagenetix > Incidental Mutation

Incidental Mutation 'R2006:Crb2'

225486

Institutional Source

Beutler Lab

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

MMRRC Submission

040015-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2006 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37776249-37799103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37783434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 114 (D114V)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

AlphaFold

Q80YA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050372
AA Change: D114V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: D114V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,313,449	F333L	probably benign	Het
Abcc2	T	A	19: 43,805,061	F384Y	probably damaging	Het
Acr	C	T	15: 89,574,201	P362S	probably benign	Het
Acss3	T	C	10: 106,963,010	D484G	possibly damaging	Het
Actrt1	A	G	X: 46,329,716	T203A	probably benign	Het
Agtpbp1	A	T	13: 59,500,321	C562S	probably benign	Het
Ahnak	A	G	19: 9,007,075	K1908E	probably damaging	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Apaf1	A	T	10: 91,061,772	I283N	probably damaging	Het
Bbx	G	A	16: 50,224,395	T493M	possibly damaging	Het
Best2	C	T	8: 85,013,189		probably null	Het
C4bp	C	A	1: 130,648,032	E75*	probably null	Het
Calr3	A	T	8: 72,434,851	V144D	probably damaging	Het
Capn1	C	T	19: 5,991,583	G632D	probably damaging	Het
Catsper2	C	A	2: 121,406,357	E270*	probably null	Het
Ccdc110	A	T	8: 45,943,312	I747F	probably damaging	Het
Ccdc15	T	A	9: 37,315,472	D389V	possibly damaging	Het
Ccdc94	C	T	17: 55,964,543	Q155*	probably null	Het
Cd226	A	G	18: 89,247,311	I125V	probably benign	Het
Crebbp	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	16: 4,084,753		probably benign	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Dab1	T	C	4: 104,605,325	I32T	probably damaging	Het
Daw1	T	C	1: 83,191,345	V181A	probably damaging	Het
Dlg2	G	A	7: 91,965,617	E255K	possibly damaging	Het
Dnah10	T	A	5: 124,829,587	D4170E	possibly damaging	Het
Dnah12	A	G	14: 26,814,459	T2111A	possibly damaging	Het
Dock10	T	C	1: 80,549,789	Y1081C	possibly damaging	Het
Dscam	T	C	16: 96,819,912	Y532C	probably damaging	Het
Fam83c	T	C	2: 155,830,303	D404G	probably benign	Het
Fam83g	A	G	11: 61,702,975	N445S	possibly damaging	Het
Ghr	C	T	15: 3,327,982	C268Y	probably damaging	Het
Gm8444	T	C	15: 81,843,574		probably benign	Het
Gp6	T	A	7: 4,384,989	K160N	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Gtf3c2	C	A	5: 31,168,096	G450C	probably damaging	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Il31ra	T	G	13: 112,530,356	Y396S	probably damaging	Het
Insig1	A	G	5: 28,071,466	N10S	probably benign	Het
Kcnh2	C	A	5: 24,326,570	G448C	probably damaging	Het
L1td1	C	T	4: 98,733,489	S96L	possibly damaging	Het
Mapre3	A	T	5: 30,861,824	N4I	probably damaging	Het
Mblac2	T	A	13: 81,711,741	D70E	probably benign	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mkl2	G	T	16: 13,381,576	E98*	probably null	Het
Mpg	A	G	11: 32,231,840	I283V	probably benign	Het
Mybpc1	C	A	10: 88,546,059	A576S	probably damaging	Het
Myo1h	T	G	5: 114,361,079	V129G	probably damaging	Het
Nars	A	T	18: 64,505,028	V285E	probably damaging	Het
Nbas	T	A	12: 13,414,741		probably null	Het
Neb	T	C	2: 52,199,444	D5172G	probably null	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Nyap1	T	C	5: 137,735,691	H360R	possibly damaging	Het
Nyx	A	G	X: 13,486,735	E276G	probably damaging	Het
Olfr111	C	T	17: 37,530,706	S243F	probably damaging	Het
Olfr1129	T	A	2: 87,575,192	M36K	probably benign	Het
Olfr1223	A	T	2: 89,144,897	V42E	probably benign	Het
Olfr1231	A	G	2: 89,302,816	Y259H	possibly damaging	Het
Olfr1361	T	C	13: 21,658,472	T284A	possibly damaging	Het
Olfr168	A	G	16: 19,530,705	Y72H	probably benign	Het
Olfr20	G	T	11: 73,354,692	C313F	probably benign	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Olfr868	A	T	9: 20,100,869	M37L	probably benign	Het
Olfr937	T	A	9: 39,060,433	T78S	probably damaging	Het
Paf1	C	A	7: 28,395,768		probably null	Het
Pcsk5	T	C	19: 17,477,916	D1050G	probably benign	Het
Pgap1	A	G	1: 54,551,061	S73P	possibly damaging	Het
Phtf1	G	A	3: 104,004,483		probably null	Het
Pik3c2b	G	T	1: 133,066,544	R82L	probably damaging	Het
Pik3ca	T	C	3: 32,450,057	L632P	probably damaging	Het
Plau	G	T	14: 20,838,692		probably null	Het
Pld4	A	T	12: 112,768,489	Q460L	possibly damaging	Het
Prdm2	T	A	4: 143,131,877	Q1614H	possibly damaging	Het
Ptprq	C	T	10: 107,666,546	G837D	probably damaging	Het
Rad9b	A	G	5: 122,339,779	V178A	possibly damaging	Het
Rfc1	G	T	5: 65,311,054	Y105*	probably null	Het
Sardh	G	A	2: 27,228,339	R460C	probably damaging	Het
Scn5a	C	A	9: 119,536,480	R367L	probably damaging	Het
Sdcbp	A	T	4: 6,386,536	I137L	probably benign	Het
Shmt2	A	G	10: 127,519,160	V273A	probably benign	Het
Slc5a9	G	T	4: 111,880,226	P612H	probably benign	Het
Slitrk4	TTGT	TT	X: 64,270,688		probably null	Het
Slitrk4	TG	T	X: 64,270,689		probably null	Het
Spata1	A	T	3: 146,493,683	S9T	probably benign	Het
Syn3	T	C	10: 86,073,233	T328A	probably benign	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tekt5	T	C	16: 10,395,206	I72V	probably benign	Het
Ticrr	T	C	7: 79,694,073	S1229P	possibly damaging	Het
Tlr6	T	C	5: 64,953,405	S720G	probably damaging	Het
Tmem156	T	A	5: 65,079,951	D87V	probably damaging	Het
Togaram1	T	A	12: 65,019,140	D1639E	probably damaging	Het
Ucn2	A	G	9: 108,986,362	K64R	probably benign	Het
Vmn2r57	T	A	7: 41,448,577	Y22F	probably benign	Het
Vwa1	T	C	4: 155,770,850	T269A	probably benign	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Wdr20	T	C	12: 110,793,568	V296A	probably damaging	Het
Xxylt1	A	T	16: 31,050,768	H171Q	probably damaging	Het
Zfp275	A	G	X: 73,353,235	T118A	possibly damaging	Het

Other mutations in Crb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Crb2	APN	2	37792064	missense	probably damaging	1.00
IGL01357:Crb2	APN	2	37795511	unclassified	probably benign
IGL01363:Crb2	APN	2	37793833	missense	probably benign	0.01
IGL02006:Crb2	APN	2	37786463	missense	probably damaging	1.00
IGL02380:Crb2	APN	2	37783435	missense	probably damaging	0.96
IGL02455:Crb2	APN	2	37794564	missense	possibly damaging	0.74
IGL03107:Crb2	APN	2	37791416	missense	probably benign	0.10
R1350:Crb2	UTSW	2	37792069	missense	probably damaging	1.00
R1353:Crb2	UTSW	2	37787281	missense	probably damaging	1.00
R1466:Crb2	UTSW	2	37783388	missense	probably damaging	1.00
R1466:Crb2	UTSW	2	37783388	missense	probably damaging	1.00
R1509:Crb2	UTSW	2	37786619	missense	probably benign	0.01
R1734:Crb2	UTSW	2	37793656	missense	probably damaging	1.00
R2918:Crb2	UTSW	2	37783383	missense	probably benign	0.01
R3431:Crb2	UTSW	2	37792217	missense	probably benign	0.24
R3975:Crb2	UTSW	2	37793668	missense	possibly damaging	0.74
R4074:Crb2	UTSW	2	37786843	missense	probably damaging	1.00
R4518:Crb2	UTSW	2	37790389	missense	probably damaging	1.00
R4521:Crb2	UTSW	2	37795337	unclassified	probably benign
R4801:Crb2	UTSW	2	37793756	missense	probably benign	0.09
R4802:Crb2	UTSW	2	37793756	missense	probably benign	0.09
R4913:Crb2	UTSW	2	37790245	missense	probably benign
R4930:Crb2	UTSW	2	37783314	missense	probably damaging	1.00
R4947:Crb2	UTSW	2	37795331	unclassified	probably benign
R4959:Crb2	UTSW	2	37790470	missense	probably damaging	0.99
R5215:Crb2	UTSW	2	37793753	missense	probably benign	0.23
R5268:Crb2	UTSW	2	37790821	missense	probably damaging	1.00
R5446:Crb2	UTSW	2	37795449	missense	probably benign	0.16
R5739:Crb2	UTSW	2	37793654	missense	probably damaging	0.99
R5875:Crb2	UTSW	2	37787254	splice site	probably null
R6179:Crb2	UTSW	2	37790257	missense	probably damaging	1.00
R6450:Crb2	UTSW	2	37793826	missense	possibly damaging	0.91
R6569:Crb2	UTSW	2	37792151	missense	probably damaging	0.99
R6828:Crb2	UTSW	2	37776409	small deletion	probably benign
R7040:Crb2	UTSW	2	37787684	missense	probably benign	0.32
R7153:Crb2	UTSW	2	37787408	missense	probably benign	0.00
R7362:Crb2	UTSW	2	37790199	missense	probably benign	0.00
R7515:Crb2	UTSW	2	37783400	missense	probably damaging	1.00
R7519:Crb2	UTSW	2	37793320	missense	probably damaging	1.00
R7583:Crb2	UTSW	2	37790595	missense	probably benign	0.00
R7819:Crb2	UTSW	2	37791591	missense	probably benign	0.00
R8016:Crb2	UTSW	2	37786556	missense	possibly damaging	0.50
R8049:Crb2	UTSW	2	37793240	missense	probably benign	0.02
R8090:Crb2	UTSW	2	37795491	missense	probably damaging	1.00
R8907:Crb2	UTSW	2	37795383	missense	probably benign	0.00
R9010:Crb2	UTSW	2	37790686	missense	probably benign	0.01
R9291:Crb2	UTSW	2	37792201	missense	probably damaging	0.99
R9448:Crb2	UTSW	2	37787761	missense	probably benign	0.01
R9706:Crb2	UTSW	2	37791203	missense	probably damaging	0.98
R9714:Crb2	UTSW	2	37791203	missense	probably damaging	0.98
X0025:Crb2	UTSW	2	37792209	missense	probably damaging	1.00
Z1176:Crb2	UTSW	2	37776371	missense	probably benign
Z1177:Crb2	UTSW	2	37787365	missense	probably damaging	1.00
Z1177:Crb2	UTSW	2	37790824	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TCCAAGTGTCTGTGCCTCAG -3'
(R):5'- TGGTTAACAAAGCTGCCAGCC -3'

Sequencing Primer
(F):5'- ATGTGCTCCAGGGACCAAGTG -3'
(R):5'- AGCCAGCTGGAGCATTCC -3'

Posted On

2014-08-25