|Institutional Source||Beutler Lab|
|Gene Name||cadherin, EGF LAG seven-pass G-type receptor 3|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R5183 (G1)|
|Chromosomal Location||108826320-108852969 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 108837560 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 2013 (D2013G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024238 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024238] [ENSMUST00000192235] [ENSMUST00000213524]|
|AlphaFold||no structure available at present|
AA Change: D2013G
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: D2013G
AA Change: D2015G
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|Meta Mutation Damage Score||0.2293|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
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'- AAAACCAGGGATCATGCCGG -3'
(R):5'- CAGATTAAGAGGTTAGGGCCC -3'
(F):5'- TCATGCCGGCACCTCCAAG -3'
(R):5'- TTAGGGCCCAAGTCAGGTG -3'