|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1717 (G1)|
|Chromosomal Location||9212856-9216201 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 9214364 bp|
|Amino Acid Change||Phenylalanine to Serine at position 482 (F482S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039660 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041080]|
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MOUSE FRIZZLED 8 (MFZ8) [X-RAY DIFFRACTION]
Crystal structure of XWnt8 in complex with the cysteine-rich domain of Frizzled 8 [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: F482S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F482S
|Meta Mutation Damage Score||0.9685|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fzd8||
(F):5'- TAGCAGGCTACTCGCAGTACTTCC -3'
(R):5'- ACTTGAGCATGAAGACCGCGTAATC -3'
(F):5'- GCAGTACTTCCACCTGGC -3'
(R):5'- TTGTGCTGCTCATAGAAAAGGC -3'