|Institutional Source||Beutler Lab|
|Gene Name||EvC ciliary complex subunit 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6285 (G1)|
|Chromosomal Location||37338499-37425055 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 37424579 bp|
|Amino Acid Change||Serine to Isoleucine at position 1189 (S1189I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055130 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056365]|
|Predicted Effect||possibly damaging
AA Change: S1189I
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: S1189I
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Evc2||
(F):5'- AGAATCGGCCCAGAATGCAG -3'
(R):5'- TATGATATAGACGGACAGACCAACC -3'
(F):5'- TCTCTCTGCAGCATATTGAAGAAG -3'
(R):5'- GGACAGACCAACCCACGTG -3'