|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 7|
|Is this an essential gene?||Possibly essential (E-score: 0.561)|
|Stock #||R6170 (G1)|
|Chromosomal Location||59482424-59486955 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 59483845 bp|
|Amino Acid Change||Methionine to Valine at position 296 (M296V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114246]|
|Predicted Effect||probably benign
AA Change: M296V
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: M296V
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||96% (68/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a shorter tail with a distal kink with full penetrance as well as cardiac defects with low penetrance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fzd7||
(F):5'- GGCCTCATGTACTTTAAAGAAGAG -3'
(R):5'- AAGTACTGCGAGTTGGCCTC -3'
(F):5'- AGGAGAGACGGTTCGCC -3'
(R):5'- ACTTCATGCCAGCTGCCAG -3'