|Institutional Source||Beutler Lab|
|Gene Name||cadherin 15|
|Synonyms||M cadherin, Mcad, Cdh14|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2157 (G1)|
|Chromosomal Location||122847966-122867397 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 122862024 bp|
|Amino Acid Change||Arginine to Glutamine at position 279 (R279Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034443 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034443] [ENSMUST00000127664]|
|Predicted Effect||probably damaging
AA Change: R279Q
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R279Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Based on the expression of this gene in skeletal muscle, satellite cells and cerebellum, it was postulated that the encoded protein may be important for muscle development and regeneration. Mice lacking the encoded protein appear normal and display no discernible defects in skeletal musculature. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no apparent defects in the development, maintenance, or regeneration of skeletal muscle or in the cerebellum. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh15||
(F):5'- CCAATATCCAGGAGCAGCTC -3'
(R):5'- TGATGGATTCTAGCTGAGGGAAC -3'
(F):5'- TGGGATCCATGGCTCTGGAAAC -3'
(R):5'- TTCTAGCTGAGGGAACACACATGAC -3'