|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3917 (G1)|
|Chromosomal Location||65192449-65262463 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 65235930 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 130 (F130I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000115325 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000131309]|
|Predicted Effect||probably damaging
AA Change: F130I
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: F130I
|Meta Mutation Damage Score||0.5807|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
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. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruption of this gene die within 30 minutes of birth. Breathing is irregular. Brain development is abnormal with occasion falure of the cephalic neural tube to close. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fzd3||
(F):5'- AGTACATATTGGGACATGGTGGC -3'
(R):5'- GGTGCCGATTTTGAAGGTAAAAC -3'
(F):5'- CATGGTGGCGAACAATCTCG -3'
(R):5'- CTCCCCAGAATATGCCAT -3'