|Institutional Source||Beutler Lab|
|Gene Name||cadherin, EGF LAG seven-pass G-type receptor 1|
|Synonyms||crash, Crsh, Scy|
|Is this an essential gene?||Probably essential (E-score: 0.752)|
|Stock #||R7371 (G1)|
|Chromosomal Location||85898929-86033777 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 86030674 bp|
|Amino Acid Change||Valine to Isoleucine at position 1033 (V1033I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016172 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016172]|
|Predicted Effect||possibly damaging
AA Change: V1033I
PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V1033I
|Coding Region Coverage||
|Validation Efficiency||98% (88/90)|
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. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice exhibit kinky tails, variable neural tube defects, abnormal hair follicle orientation, whorl-like hair patterns, and partial prenatal lethality. ENU-induced mutants show defects in planar polarity of inner ear hair cells and complete perinatal lethality due to craniorachischisis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Celsr1||
(F):5'- TTGTCATTCTGGTCCAGGAGAC -3'
(R):5'- TGGCCGTGTACAACCTTTGG -3'
(F):5'- TCCAGGAGACGGATGTGCAC -3'
(R):5'- GTGTACAACCTTTGGGCTCTCG -3'