|Institutional Source||Beutler Lab|
|Gene Name||cadherin, EGF LAG seven-pass G-type receptor 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7156 (G1)|
|Chromosomal Location||108826320-108852969 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 108838004 bp|
|Amino Acid Change||Leucine to Proline at position 2066 (L2066P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000150759 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024238] [ENSMUST00000213524]|
|Predicted Effect||probably damaging
AA Change: L2064P
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: L2064P
|Predicted Effect||possibly damaging
AA Change: L2066P
PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|Coding Region Coverage||
|Validation Efficiency||100% (81/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Celsr3||
(F):5'- TAAACCCATCTGAGGCAAGTC -3'
(R):5'- GACTCTTCGCTAGAACCAATCC -3'
(F):5'- ACCCATCTGAGGCAAGTCTTTTTAG -3'
(R):5'- GCTAGAACCAATCCTCTCCATGAG -3'