|Institutional Source||Beutler Lab|
|Gene Name||dickkopf WNT signaling pathway inhibitor 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.289)|
|Stock #||R7180 (G1)|
|Chromosomal Location||132085292-132180304 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 132086192 bp|
|Amino Acid Change||Serine to Threonine at position 54 (S54T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029665 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029665]|
|Predicted Effect||probably damaging
AA Change: S54T
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S54T
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008]
PHENOTYPE: mice homozygous for a targeted disruption are osteopenic with defective mineralization of induced osteoblasts in culture. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dkk2||
(F):5'- TGGCATTCCCATCTTTTCAGGG -3'
(R):5'- GAACTCTAAACCTCCCGCTG -3'
(F):5'- ATCTTTTCAGGGCTCCACC -3'
(R):5'- AAGTCCTGGTACCCCTGCAG -3'