|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor-related protein 6|
|Synonyms||skax26, Cd, ska26, ska|
|Is this an essential gene?||Probably essential (E-score: 0.963)|
|Stock #||R0413 (G1)|
|Chromosomal Location||134446476-134566965 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 134507624 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 345 (D345E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032322 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032322] [ENSMUST00000126836]|
|Predicted Effect||probably damaging
AA Change: D345E
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: D345E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.096|
|Coding Region Coverage||
|Validation Efficiency||99% (99/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
PHENOTYPE: Animals homozygous for this mutation exhibit partial embryonic lethality, growth retardation, crooked tail, abnormal vertebrae, small skull with occasional bent nose, absence of the third molars and small and/or unerupted lower incisors. Heterozygotes exhibit a crooked tail and abnormal vertebrae. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrp6||
(F):5'- AATCTGGGCCGTGACCACAAACTG -3'
(R):5'- AGTAAATCACAAGTGTGGGCCAAGC -3'
(F):5'- TGACTGCCAGATCCATCTATGAAG -3'
(R):5'- AACTACTATGGCACTTGACCTG -3'