|Institutional Source||Beutler Lab|
|Gene Name||dachsous cadherin related 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1241 (G1)|
|Chromosomal Location||105752990-105787654 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 105758178 bp|
|Amino Acid Change||Isoleucine to Valine at position 2110 (I2110V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077574 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078482]|
|Predicted Effect||probably damaging
AA Change: I2110V
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I2110V
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6333|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, growth retardation, small lungs, abnormal cochlea morphology, abnormal kidney morphology, cardiovascular abnormalities and skeletal abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dchs1||
(F):5'- AAGCAAAGGCTCCTCCACTCTCTG -3'
(R):5'- TGCTCCGTGAAAATGCACCACC -3'
(F):5'- GGGCTTGTTTCAAAGTCAAGACC -3'
(R):5'- GTGCCAGATTTAAACTCCTGGAAG -3'