|Institutional Source||Beutler Lab|
|Gene Name||cadherin, EGF LAG seven-pass G-type receptor 2|
|Synonyms||mfmi1, EGFL2, flamingo|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5869 (G1)|
|Chromosomal Location||108390851-108415552 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 108413909 bp|
|Amino Acid Change||Alanine to Valine at position 529 (A529V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090558]|
|Predicted Effect||probably damaging
AA Change: A529V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A529V
|Meta Mutation Damage Score||0.5244|
|Coding Region Coverage||
|Validation Efficiency||93% (68/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Celsr2||
(F):5'- GGTTACACTGACACTGGCTG -3'
(R):5'- CAACCAAAGAGTATACGCTTCGG -3'
(F):5'- TGAGGCCGTGAGCGCTG -3'
(R):5'- AGAGTATACGCTTCGGATCCG -3'