Mutagenetix > Incidental Mutation

Incidental Mutation 'R4930:Crb2'

381122

Institutional Source

Beutler Lab

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

MMRRC Submission

042531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4930 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

37666261-37689115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37673326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 74 (G74V)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

AlphaFold

Q80YA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050372
AA Change: G74V

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

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: G74V

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

Meta Mutation Damage Score

0.1475

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,953,008 (GRCm39)	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,370,263 (GRCm39)	M499T	possibly damaging	Het
Abcb8	G	A	5: 24,605,779 (GRCm39)	V196M	possibly damaging	Het
Ahnak	T	C	19: 8,988,331 (GRCm39)	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,092,433 (GRCm39)	Y265H	probably damaging	Het
Apeh	A	G	9: 107,965,024 (GRCm39)	S446P	probably benign	Het
Apip	C	A	2: 102,922,226 (GRCm39)	Y197*	probably null	Het
Arhgef11	T	G	3: 87,635,901 (GRCm39)	V925G	probably damaging	Het
Arid4b	T	C	13: 14,362,062 (GRCm39)	V929A	probably damaging	Het
Asah2	T	A	19: 32,030,306 (GRCm39)	D122V	probably benign	Het
B2m	A	T	2: 121,982,128 (GRCm39)	D116V	possibly damaging	Het
Bhmt-ps1	A	G	4: 26,369,184 (GRCm39)		noncoding transcript	Het
Cacna1g	T	A	11: 94,334,899 (GRCm39)	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,581,111 (GRCm39)	V113E	probably damaging	Het
Cenpj	A	T	14: 56,772,238 (GRCm39)	Y388*	probably null	Het
Chd3	G	A	11: 69,245,034 (GRCm39)		probably benign	Het
Chil3	C	T	3: 106,071,524 (GRCm39)	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,375,710 (GRCm39)	T361A	possibly damaging	Het
Cops3	C	A	11: 59,726,193 (GRCm39)		probably benign	Het
Cspg4b	G	T	13: 113,464,196 (GRCm39)	G1453C	probably damaging	Het
Cyp20a1	A	T	1: 60,405,878 (GRCm39)	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,378,602 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,550,904 (GRCm39)	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 126,877,224 (GRCm39)	S14A	possibly damaging	Het
Ehf	C	A	2: 103,097,202 (GRCm39)	R250L	probably damaging	Het
Eps8l1	G	A	7: 4,463,915 (GRCm39)	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,563,736 (GRCm39)	V257G	possibly damaging	Het
Gc	T	C	5: 89,587,448 (GRCm39)	T259A	probably benign	Het
Gm4952	A	T	19: 12,604,376 (GRCm39)	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,388,794 (GRCm39)	H326L	probably damaging	Het
Helz	T	C	11: 107,510,994 (GRCm39)	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,209,662 (GRCm39)	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,999,330 (GRCm39)		probably null	Het
Ift56	A	T	6: 38,368,475 (GRCm39)	Y174F	probably damaging	Het
Ighv1-81	T	C	12: 115,883,924 (GRCm39)	D109G	probably damaging	Het
Irx4	T	C	13: 73,417,032 (GRCm39)	V476A	probably benign	Het
Katnb1	T	A	8: 95,823,922 (GRCm39)		probably null	Het
L3mbtl1	A	G	2: 162,807,692 (GRCm39)	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,412,806 (GRCm39)		probably null	Het
Lrrc38	A	T	4: 143,096,438 (GRCm39)	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215 (GRCm39)	Y34*	probably null	Het
Mgst1	T	A	6: 138,130,507 (GRCm39)	F79I	probably benign	Het
Midn	T	C	10: 79,991,189 (GRCm39)	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640 (GRCm39)	D208E	probably benign	Het
Mrps26	A	G	2: 130,406,862 (GRCm39)	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,393,983 (GRCm39)	M371K	probably benign	Het
Mynn	A	C	3: 30,661,191 (GRCm39)	N91T	probably damaging	Het
Nek11	A	G	9: 105,177,265 (GRCm39)	L292P	probably damaging	Het
Nid1	A	T	13: 13,684,596 (GRCm39)	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,148,499 (GRCm39)	Y121H	probably damaging	Het
Or1f19	T	G	16: 3,410,299 (GRCm39)	L13R	probably damaging	Het
Or4p7	G	A	2: 88,222,284 (GRCm39)	R231H	probably benign	Het
Or5ac22	C	A	16: 59,135,236 (GRCm39)	C178F	probably damaging	Het
Or5ap2	T	A	2: 85,680,237 (GRCm39)	I147N	probably benign	Het
Or5d38	A	C	2: 87,954,684 (GRCm39)	I215S	probably benign	Het
Or7e176	T	C	9: 20,171,313 (GRCm39)	I59T	probably damaging	Het
Or9q2	T	C	19: 13,772,915 (GRCm39)	H20R	probably benign	Het
P2rx7	C	T	5: 122,808,542 (GRCm39)	T308M	probably damaging	Het
Prdx6	C	T	1: 161,069,263 (GRCm39)		probably benign	Het
Rad54b	T	A	4: 11,615,579 (GRCm39)	D862E	probably damaging	Het
Ripor1	A	G	8: 106,343,814 (GRCm39)	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,344,291 (GRCm39)	M43V	probably benign	Het
Rp1l1	A	G	14: 64,269,655 (GRCm39)	N1747S	probably benign	Het
Rps27	A	G	3: 90,120,306 (GRCm39)	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236 (GRCm39)	V86A	possibly damaging	Het
Spdef	A	G	17: 27,937,136 (GRCm39)	Y156H	probably damaging	Het
Specc1	A	C	11: 62,009,784 (GRCm39)	E433D	possibly damaging	Het
Srpra	T	A	9: 35,126,326 (GRCm39)	F506L	probably benign	Het
Stxbp5	A	G	10: 9,636,610 (GRCm39)		probably benign	Het
Syne1	C	T	10: 5,002,777 (GRCm39)	R8046Q	probably damaging	Het
Tbx5	T	A	5: 120,021,090 (GRCm39)	S365R	probably benign	Het
Terb1	G	T	8: 105,174,580 (GRCm39)	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,711,948 (GRCm39)	Y27*	probably null	Het
Tmem106c	C	A	15: 97,862,909 (GRCm39)	A60E	possibly damaging	Het
Ttc6	T	A	12: 57,720,609 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,562,714 (GRCm39)	I28747V	possibly damaging	Het
Unc13a	C	T	8: 72,083,148 (GRCm39)		probably null	Het
Wdr81	T	C	11: 75,342,750 (GRCm39)	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,041,725 (GRCm39)	Q33E	probably benign	Het
Zfp456	T	C	13: 67,515,065 (GRCm39)	R214G	probably benign	Het
Zfp457	T	A	13: 67,442,164 (GRCm39)	Y137F	probably 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
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
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'- TTGAACATGGACAGACCTGTG -3'
(R):5'- CTCGTAGTGATCTGCCAGATTTTG -3'

Sequencing Primer
(F):5'- ACATGGACAGACCTGTGTTAGACTTG -3'
(R):5'- ACAGTAGCAACGGAAGCT -3'

Posted On

2016-04-15