Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Crb2'

546980

Institutional Source

Beutler Lab

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37776249-37799103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37787684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 326 (D326E)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

AlphaFold

Q80YA8

Predicted Effect

probably benign
Transcript: ENSMUST00000050372
AA Change: D326E

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: D326E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably 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
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
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'- ATGCCTGAGTCCATACCCTC -3'
(R):5'- AAGTTGGAGTTCTGGCTCAGC -3'

Sequencing Primer
(F):5'- TGAGTCCATACCCTCCTCTC -3'
(R):5'- TGTCACCTGTGCCACCATGG -3'

Posted On

2019-05-13