|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 7|
|Essential gene?||Possibly non essential (E-score: 0.450)|
|Stock #||R0551 (G1)|
|Chromosomal Location||59482424-59486955 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 59483284 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 109 (V109L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114246]|
AA Change: V109L
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: V109L
|Meta Mutation Damage Score||0.4137|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
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'- TCAGCCATATCACGGCGAGAAAG -3'
(R):5'- ACATCGCAGTGAAAGGTGGGTC -3'
(F):5'- TATCACGGCGAGAAAGGCATC -3'
(R):5'- TCTGGCAGGTAGGGAGC -3'