Mutagenetix > Incidental Mutation

Incidental Mutation 'R7819:Crb2'

601720

Institutional Source

Beutler Lab

Gene Symbol

Crb2

Ensembl Gene

ENSMUSG00000035403

Gene Name

crumbs family member 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7819 (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 37791591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 815 (N815K)

Ref Sequence

ENSEMBL: ENSMUSP00000058007 (fasta)

Gene Model

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

AlphaFold

Q80YA8

Predicted Effect

probably benign
Transcript: ENSMUST00000050372
AA Change: N815K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: N815K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	G	6: 52,179,274		probably benign	Het
Abcg3	T	C	5: 104,977,728	T30A	probably benign	Het
Adra1b	A	T	11: 43,835,367	V241D	probably damaging	Het
Ahctf1	A	T	1: 179,768,315	N170K	probably benign	Het
Ahr	A	G	12: 35,510,000	L218P	probably damaging	Het
Apol8	C	T	15: 77,749,759	V206M	probably damaging	Het
Arhgap11a	T	A	2: 113,834,918		probably null	Het
B3galnt1	T	C	3: 69,575,775	Y51C	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C77080	A	G	4: 129,222,483	V841A	probably benign	Het
Capn3	T	C	2: 120,464,165	V98A	probably benign	Het
Casp12	T	C	9: 5,352,805	L209P	probably damaging	Het
Ccdc96	A	T	5: 36,485,985	Q445L	probably damaging	Het
Cdc37	A	G	9: 21,140,964	S301P	probably damaging	Het
Cep89	A	T	7: 35,432,543	H634L	probably benign	Het
Chmp3	T	A	6: 71,561,024	Y12*	probably null	Het
Clgn	A	T	8: 83,408,200	I156F	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Col4a3bp	A	T	13: 96,629,067	T447S	possibly damaging	Het
Csgalnact2	A	C	6: 118,121,089	L97V	possibly damaging	Het
Ctsh	T	A	9: 90,060,503	M37K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,216,798	E394G	probably damaging	Het
Ddx31	T	G	2: 28,892,451	L602R	probably damaging	Het
Defb40	T	A	8: 18,975,034	Y52F	probably benign	Het
Dip2a	A	G	10: 76,291,028	V710A	probably benign	Het
Dnah2	T	C	11: 69,516,593	I150V	probably benign	Het
Eln	A	T	5: 134,737,181	L56Q	unknown	Het
Ezh1	T	C	11: 101,194,914	N639S	probably damaging	Het
Fzd3	A	G	14: 65,235,326	F331S	probably damaging	Het
Gbp9	T	C	5: 105,103,879	T68A	possibly damaging	Het
Gltp	A	G	5: 114,674,100	M104T	probably benign	Het
Gm3854	A	C	7: 6,354,166	H326P	probably damaging	Het
Gmps	G	A	3: 63,985,627	V118M	probably damaging	Het
Gpsm1	T	C	2: 26,339,693	L42P	probably damaging	Het
Hsfy2	T	A	1: 56,636,259	H373L	probably benign	Het
Ica1l	A	T	1: 60,015,794	F93I	possibly damaging	Het
Idh1	A	G	1: 65,165,118	S278P	probably damaging	Het
Ighmbp2	C	T	19: 3,267,276	G532D	possibly damaging	Het
Ikbkb	A	G	8: 22,671,726	L382S	probably benign	Het
Il1rap	T	A	16: 26,722,401	M464K	possibly damaging	Het
Ing2	G	A	8: 47,669,028	R162C	probably damaging	Het
Ints1	A	T	5: 139,760,767	L1275H	probably damaging	Het
Ispd	A	G	12: 36,381,903	T44A	probably benign	Het
Itga1	T	C	13: 115,049,301	E55G	probably damaging	Het
Itih4	T	C	14: 30,901,663	F930L	probably benign	Het
Kcnh8	A	G	17: 52,956,715	T747A	probably benign	Het
Kit	A	G	5: 75,645,932	E699G	probably benign	Het
Lamc3	T	C	2: 31,921,763	S921P	probably benign	Het
Lrrc63	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGC	14: 75,125,221		probably benign	Het
Map10	TCAGTTGTCCAG	TCAG	8: 125,670,521		probably null	Het
Map2k5	T	C	9: 63,358,018	E76G	probably damaging	Het
Mgat3	G	T	15: 80,211,772	E267*	probably null	Het
Npepps	C	A	11: 97,248,269	G159V	probably damaging	Het
Nrap	A	G	19: 56,335,288	V1284A	probably benign	Het
Olfr518	T	A	7: 108,881,403	I68F	probably damaging	Het
Olfr792	A	T	10: 129,540,693	H52L	probably benign	Het
Oxgr1	T	C	14: 120,022,869		probably null	Het
Pcdhb18	T	C	18: 37,491,255	L546P	possibly damaging	Het
Pcdhga5	G	A	18: 37,696,580	V694M	probably damaging	Het
Pde9a	A	T	17: 31,460,200	I255F	possibly damaging	Het
Pi4k2a	G	A	19: 42,090,574	G25R	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ppp1r37	A	G	7: 19,534,064	I302T	probably damaging	Het
Prkar2a	T	A	9: 108,745,545	Y311N	probably damaging	Het
Prkd3	A	T	17: 78,972,501	D254E	probably benign	Het
Prmt9	T	C	8: 77,568,344	V439A	probably benign	Het
Ptpra	T	C	2: 130,504,206	S96P	probably benign	Het
Rnf103	A	G	6: 71,508,930	T182A	probably benign	Het
Rpusd4	A	G	9: 35,267,932	S15G	probably benign	Het
Sco1	A	G	11: 67,058,393	Y229C	probably damaging	Het
Skint5	T	A	4: 113,559,835	Q1139L	unknown	Het
Slc16a12	A	G	19: 34,675,179	V189A	probably damaging	Het
Slfn8	T	G	11: 83,004,255	N575T	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stard9	T	C	2: 120,700,984	L2574P	probably damaging	Het
Syn3	A	T	10: 86,055,540		probably benign	Het
Tspo2	A	T	17: 48,449,957	D32E	probably damaging	Het
Vmn1r72	A	G	7: 11,669,625	F299L	probably benign	Het
Wdr66	A	G	5: 123,254,259		probably benign	Het
Xbp1	G	A	11: 5,524,886	M262I	probably benign	Het
Zfp354b	G	A	11: 50,923,805	Q98*	probably null	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
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
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'- TTCTACCCTGATGACACCCAG -3'
(R):5'- TCGGCCAAACAGTAGCTATAG -3'

Sequencing Primer
(F):5'- CTGATGACACCCAGCTCTG -3'
(R):5'- TCAGGATGCCATCTGAGACTGATAC -3'

Posted On

2019-12-03