|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 7|
|Is this an essential gene?||Possibly non essential (E-score: 0.493)|
|Stock #||R6136 (G1)|
|Chromosomal Location||59482424-59486955 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 59483260 bp|
|Amino Acid Change||Phenylalanine to Valine at position 101 (F101V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114246]|
|Predicted Effect||probably damaging
AA Change: F101V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F101V
|Meta Mutation Damage Score||0.8533|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
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'- GAGAAAGGCATCTCGGTACC -3'
(R):5'- TACATGAGGCCGTTAGCAC -3'
(F):5'- GCATCTCGGTACCGGACC -3'
(R):5'- TCACCTAGGAAGCGGTAGC -3'