Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Crb2'

168110

Institutional Source

Beutler Lab

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

MMRRC Submission

039556-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1509 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37776249-37799103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37786619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 204 (H204R)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

AlphaFold

Q80YA8

Predicted Effect

probably benign
Transcript: ENSMUST00000050372
AA Change: H204R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: H204R

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

probably benign
Transcript: ENSMUST00000147600

Meta Mutation Damage Score

0.0729

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,456,346	E655G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Galnt13	T	C	2: 54,733,082	I80T	probably damaging	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hmcn2	T	A	2: 31,314,479	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Naca	T	A	10: 128,043,397		probably benign	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,153,023	S583T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Ticam1	A	T	17: 56,271,113	S327R	probably benign	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	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
R1734:Crb2	UTSW	2	37793656	missense	probably damaging	1.00
R2006:Crb2	UTSW	2	37783434	missense	probably damaging	0.99
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'- AGCATTTCCTCTGAAAGAGCGGAAC -3'
(R):5'- TCAGACACCCTTCTTGTGTGCCAG -3'

Sequencing Primer
(F):5'- CATATGGGTAACTGGAGCAGACTG -3'
(R):5'- tgcaacccaaggggcag -3'

Posted On

2014-04-13