|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 4|
|Is this an essential gene?||Probably essential (E-score: 0.770)|
|Stock #||R6021 (G1)|
|Chromosomal Location||89404355-89413134 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 89407734 bp|
|Amino Acid Change||Alanine to Threonine at position 330 (A330T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049852 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058755]|
|Predicted Effect||probably benign
AA Change: A330T
PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: A330T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1696|
|Coding Region Coverage||
|Validation Efficiency||94% (61/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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 protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in hearing, locomotion, retinal morphology, and degeneration of the cerebellum. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fzd4||
(F):5'- AGCGCCCCATCATATTTCTCAG -3'
(R):5'- AGGGCATCTAGATTTTGGTTCCC -3'
(F):5'- AGCATTGCTTATATTGTTCGGCTGAC -3'
(R):5'- TTTTGGTTCCCAACATAGCACAAGC -3'