Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Crb2'

399869

Institutional Source

Beutler Lab

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

MMRRC Submission

042860-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37666261-37689115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37680833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 587 (V587A)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

AlphaFold

Q80YA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050372
AA Change: V587A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: V587A

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

probably benign
Transcript: ENSMUST00000147600

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adamtsl4	C	A	3: 95,587,473 (GRCm39)	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,099 (GRCm39)	V623I	probably benign	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Ercc6l2	T	C	13: 64,016,925 (GRCm39)	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ibtk	A	T	9: 85,625,743 (GRCm39)	D2E	probably benign	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or6a2	T	A	7: 106,600,111 (GRCm39)	N319Y	probably benign	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pamr1	G	A	2: 102,417,029 (GRCm39)	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	probably benign	Het

Other mutations in Crb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Crb2	APN	2	37,682,076 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCCTGACCTAGCCTTAAATG -3'
(R):5'- ATCAGTGCATGTGGCTCCAC -3'

Sequencing Primer
(F):5'- CCTGACCTAGCCTTAAATGATGGG -3'
(R):5'- TGGCTCCACGGTAAGGTCTC -3'

Posted On

2016-07-06