|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 2|
|Synonyms||Mfz10a, Fz10, Mfz10|
|Is this an essential gene?||Possibly essential (E-score: 0.602)|
|Stock #||R5296 (G1)|
|Chromosomal Location||102604396-102608058 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 102606155 bp|
|Amino Acid Change||Threonine to Methionine at position 475 (T475M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091463 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057893]|
|Predicted Effect||probably damaging
AA Change: T475M
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: T475M
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
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. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
PHENOTYPE: About 50% of mice homozygous for a reporter allele display a cleft palate and die as neonates; the remaining 50% survive exhibiting a variable degree of postnatal runting and reduced olfactory sensitivity to various odorants. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fzd2||
(F):5'- ATCACCATCTTGGCCATGGG -3'
(R):5'- GATGAGCGTCATGAGGTATTTGATC -3'
(F):5'- TTCGTGGGCCTCAATAGC -3'
(R):5'- ATCATGTAGACTGTGAAGTCGGGC -3'