|Institutional Source||Beutler Lab|
|Gene Name||crumbs family member 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4518 (G1)|
|Chromosomal Location||37776249-37799103 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 37790389 bp|
|Amino Acid Change||Threonine to Lysine at position 443 (T443K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058007 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050372]|
|Predicted Effect||probably damaging
AA Change: T443K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T443K
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
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||
|Other mutations in Crb2||
(F):5'- GAATGCCAGTCGGAACCATG -3'
(R):5'- TGCCATGTCTCGAGAGTGTG -3'
(F):5'- ATGCCTGCATGGTGGAAC -3'
(R):5'- CATGTCTCGAGAGTGTGGCTTG -3'