Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01363:Crb2'

75845

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01363

Quality Score

Status

Chromosome

Chromosomal Location

37776249-37799103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37793833 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1116 (R1116S)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000050372
AA Change: R1116S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: R1116S

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,610,690	F23S	probably damaging	Het
A730017C20Rik	G	A	18: 59,072,308	G98D	probably damaging	Het
Abcg3	A	G	5: 104,948,362	V528A	possibly damaging	Het
Adgrv1	A	G	13: 81,557,065	V1542A	probably damaging	Het
Alkbh3	A	G	2: 94,003,051		probably null	Het
Ang4	G	T	14: 51,764,179	T104K	probably benign	Het
Arhgef3	T	A	14: 27,401,919	C532*	probably null	Het
Bnip3	G	A	7: 138,898,048	T70I	probably benign	Het
Cast	T	C	13: 74,704,192	E644G	possibly damaging	Het
Cenpc1	A	T	5: 86,046,531	C125*	probably null	Het
Cyp2c67	T	G	19: 39,639,967	I178L	probably damaging	Het
Cyp2c68	T	A	19: 39,703,427	M351L	probably benign	Het
Dusp1	G	A	17: 26,506,290	P365L	probably damaging	Het
Gatb	T	C	3: 85,652,345	L492P	probably damaging	Het
Gm13103	A	T	4: 143,853,276	Y477F	probably benign	Het
Igkv8-19	T	C	6: 70,341,099	S48G	probably damaging	Het
Isyna1	G	A	8: 70,594,722	V32I	probably damaging	Het
Itgb6	T	A	2: 60,611,382	N695Y	possibly damaging	Het
Klra8	T	C	6: 130,115,598	T247A	probably benign	Het
Mak	G	A	13: 41,053,377		probably benign	Het
Mndal	T	A	1: 173,857,456	T516S	possibly damaging	Het
Mphosph9	G	T	5: 124,262,021	T939K	probably damaging	Het
Nfrkb	A	G	9: 31,414,371	T1037A	possibly damaging	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr25	A	G	9: 38,329,703	T39A	probably benign	Het
Pard3b	A	G	1: 62,637,640	Y1011C	probably damaging	Het
Parm1	G	A	5: 91,613,018	V250M	probably damaging	Het
Pgap2	T	G	7: 102,226,282	M1R	probably null	Het
Phlpp2	T	C	8: 109,937,097	F923L	probably benign	Het
Polr1a	T	A	6: 71,948,486	M739K	probably benign	Het
Pramel1	A	G	4: 143,397,385	Y210C	probably benign	Het
Raver2	A	G	4: 101,120,583		probably benign	Het
Rb1cc1	C	T	1: 6,250,109	L1251F	probably benign	Het
Ros1	T	A	10: 52,166,142	Y238F	probably damaging	Het
Shroom3	T	C	5: 92,940,993	L534P	probably benign	Het
Tjp1	A	T	7: 65,302,965	F1540L	possibly damaging	Het
Tmem200b	C	A	4: 131,922,393	P208Q	probably benign	Het
Tmem236	T	C	2: 14,174,630	L14P	probably damaging	Het
Tubgcp6	A	T	15: 89,107,525	I623N	probably damaging	Het
Vmn1r119	C	T	7: 21,012,131	V109I	probably benign	Het
Vmn2r98	A	G	17: 19,065,758	N173D	probably benign	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
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
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
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

Posted On

2013-10-07