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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2006 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37666261-37689115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37673446 bp (GRCm39)

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: 110,204,275 (GRCm39)	F333L	probably benign	Het
Abcc2	T	A	19: 43,793,500 (GRCm39)	F384Y	probably damaging	Het
Acr	C	T	15: 89,458,404 (GRCm39)	P362S	probably benign	Het
Acss3	T	C	10: 106,798,871 (GRCm39)	D484G	possibly damaging	Het
Actrt1	A	G	X: 45,418,593 (GRCm39)	T203A	probably benign	Het
Agtpbp1	A	T	13: 59,648,135 (GRCm39)	C562S	probably benign	Het
Ahnak	A	G	19: 8,984,439 (GRCm39)	K1908E	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Apaf1	A	T	10: 90,897,634 (GRCm39)	I283N	probably damaging	Het
Bbx	G	A	16: 50,044,758 (GRCm39)	T493M	possibly damaging	Het
Best2	C	T	8: 85,739,818 (GRCm39)		probably null	Het
C4bp	C	A	1: 130,575,769 (GRCm39)	E75*	probably null	Het
Calr3	A	T	8: 73,188,695 (GRCm39)	V144D	probably damaging	Het
Capn1	C	T	19: 6,041,613 (GRCm39)	G632D	probably damaging	Het
Catsper2	C	A	2: 121,236,838 (GRCm39)	E270*	probably null	Het
Ccdc110	A	T	8: 46,396,349 (GRCm39)	I747F	probably damaging	Het
Ccdc15	T	A	9: 37,226,768 (GRCm39)	D389V	possibly damaging	Het
Cd226	A	G	18: 89,265,435 (GRCm39)	I125V	probably benign	Het
Crebbp	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	16: 3,902,617 (GRCm39)		probably benign	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Dab1	T	C	4: 104,462,522 (GRCm39)	I32T	probably damaging	Het
Daw1	T	C	1: 83,169,066 (GRCm39)	V181A	probably damaging	Het
Dlg2	G	A	7: 91,614,825 (GRCm39)	E255K	possibly damaging	Het
Dnah10	T	A	5: 124,906,651 (GRCm39)	D4170E	possibly damaging	Het
Dnah12	A	G	14: 26,536,416 (GRCm39)	T2111A	possibly damaging	Het
Dock10	T	C	1: 80,527,506 (GRCm39)	Y1081C	possibly damaging	Het
Dscam	T	C	16: 96,621,112 (GRCm39)	Y532C	probably damaging	Het
Fam83c	T	C	2: 155,672,223 (GRCm39)	D404G	probably benign	Het
Fam83g	A	G	11: 61,593,801 (GRCm39)	N445S	possibly damaging	Het
Ghr	C	T	15: 3,357,464 (GRCm39)	C268Y	probably damaging	Het
Gm8444	T	C	15: 81,727,775 (GRCm39)		probably benign	Het
Gp6	T	A	7: 4,387,988 (GRCm39)	K160N	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Gtf3c2	C	A	5: 31,325,440 (GRCm39)	G450C	probably damaging	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Il31ra	T	G	13: 112,666,890 (GRCm39)	Y396S	probably damaging	Het
Insig1	A	G	5: 28,276,464 (GRCm39)	N10S	probably benign	Het
Kcnh2	C	A	5: 24,531,568 (GRCm39)	G448C	probably damaging	Het
L1td1	C	T	4: 98,621,726 (GRCm39)	S96L	possibly damaging	Het
Mapre3	A	T	5: 31,019,168 (GRCm39)	N4I	probably damaging	Het
Mblac2	T	A	13: 81,859,860 (GRCm39)	D70E	probably benign	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mpg	A	G	11: 32,181,840 (GRCm39)	I283V	probably benign	Het
Mrtfb	G	T	16: 13,199,440 (GRCm39)	E98*	probably null	Het
Mybpc1	C	A	10: 88,381,921 (GRCm39)	A576S	probably damaging	Het
Myo1h	T	G	5: 114,499,140 (GRCm39)	V129G	probably damaging	Het
Nars1	A	T	18: 64,638,099 (GRCm39)	V285E	probably damaging	Het
Nbas	T	A	12: 13,464,742 (GRCm39)		probably null	Het
Neb	T	C	2: 52,089,456 (GRCm39)	D5172G	probably null	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Nyap1	T	C	5: 137,733,953 (GRCm39)	H360R	possibly damaging	Het
Nyx	A	G	X: 13,352,974 (GRCm39)	E276G	probably damaging	Het
Or10ag59	T	A	2: 87,405,536 (GRCm39)	M36K	probably benign	Het
Or1e1	G	T	11: 73,245,518 (GRCm39)	C313F	probably benign	Het
Or2l13b	A	G	16: 19,349,455 (GRCm39)	Y72H	probably benign	Het
Or2w6	T	C	13: 21,842,642 (GRCm39)	T284A	possibly damaging	Het
Or4c1	A	G	2: 89,133,160 (GRCm39)	Y259H	possibly damaging	Het
Or4c118	A	T	2: 88,975,241 (GRCm39)	V42E	probably benign	Het
Or5v1b	C	T	17: 37,841,597 (GRCm39)	S243F	probably damaging	Het
Or7e174	A	T	9: 20,012,165 (GRCm39)	M37L	probably benign	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Or8g23	T	A	9: 38,971,729 (GRCm39)	T78S	probably damaging	Het
Paf1	C	A	7: 28,095,193 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,280 (GRCm39)	D1050G	probably benign	Het
Pgap1	A	G	1: 54,590,220 (GRCm39)	S73P	possibly damaging	Het
Phtf1	G	A	3: 103,911,799 (GRCm39)		probably null	Het
Pik3c2b	G	T	1: 132,994,282 (GRCm39)	R82L	probably damaging	Het
Pik3ca	T	C	3: 32,504,206 (GRCm39)	L632P	probably damaging	Het
Plau	G	T	14: 20,888,760 (GRCm39)		probably null	Het
Pld4	A	T	12: 112,734,923 (GRCm39)	Q460L	possibly damaging	Het
Prdm2	T	A	4: 142,858,447 (GRCm39)	Q1614H	possibly damaging	Het
Ptprq	C	T	10: 107,502,407 (GRCm39)	G837D	probably damaging	Het
Rad9b	A	G	5: 122,477,842 (GRCm39)	V178A	possibly damaging	Het
Rfc1	G	T	5: 65,468,397 (GRCm39)	Y105*	probably null	Het
Sardh	G	A	2: 27,118,351 (GRCm39)	R460C	probably damaging	Het
Scn5a	C	A	9: 119,365,546 (GRCm39)	R367L	probably damaging	Het
Sdcbp	A	T	4: 6,386,536 (GRCm39)	I137L	probably benign	Het
Shmt2	A	G	10: 127,355,029 (GRCm39)	V273A	probably benign	Het
Slc5a9	G	T	4: 111,737,423 (GRCm39)	P612H	probably benign	Het
Slitrk4	TTGT	TT	X: 63,314,294 (GRCm39)		probably null	Het
Slitrk4	TG	T	X: 63,314,295 (GRCm39)		probably null	Het
Spata1	A	T	3: 146,199,438 (GRCm39)	S9T	probably benign	Het
Syn3	T	C	10: 85,909,097 (GRCm39)	T328A	probably benign	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tekt5	T	C	16: 10,213,070 (GRCm39)	I72V	probably benign	Het
Ticrr	T	C	7: 79,343,821 (GRCm39)	S1229P	possibly damaging	Het
Tlr6	T	C	5: 65,110,748 (GRCm39)	S720G	probably damaging	Het
Tmem156	T	A	5: 65,237,294 (GRCm39)	D87V	probably damaging	Het
Togaram1	T	A	12: 65,065,914 (GRCm39)	D1639E	probably damaging	Het
Ucn2	A	G	9: 108,815,430 (GRCm39)	K64R	probably benign	Het
Vmn2r57	T	A	7: 41,098,001 (GRCm39)	Y22F	probably benign	Het
Vwa1	T	C	4: 155,855,307 (GRCm39)	T269A	probably benign	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wdr20	T	C	12: 110,760,002 (GRCm39)	V296A	probably damaging	Het
Xxylt1	A	T	16: 30,869,586 (GRCm39)	H171Q	probably damaging	Het
Yju2	C	T	17: 56,271,543 (GRCm39)	Q155*	probably null	Het
Zfp275	A	G	X: 72,396,841 (GRCm39)	T118A	possibly damaging	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
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

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