|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3968 (G1)|
|Chromosomal Location||9212856-9216201 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 9214070 bp|
|Amino Acid Change||Valine to Alanine at position 384 (V384A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039660 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041080]|
|Predicted Effect||probably damaging
AA Change: V384A
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V384A
|Meta Mutation Damage Score||0.156|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
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'- GAACGGCCCATCATATTCCTC -3'
(R):5'- AAGCCGCGTAGGTTGTCAAG -3'
(F):5'- ACCTCTTCGTGTCTGTCGGG -3'
(R):5'- TTGCCCACGTAGCAGATG -3'