|Institutional Source||Beutler Lab|
|Gene Name||frizzled class receptor 9|
|Synonyms||mfz9, frizzled 9|
|Is this an essential gene?||Possibly essential (E-score: 0.662)|
|Stock #||R4576 (G1)|
|Chromosomal Location||135248938-135251230 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 135250312 bp|
|Amino Acid Change||Serine to Proline at position 240 (S240P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053551 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002825] [ENSMUST00000062572]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: S240P
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: S240P
|Meta Mutation Damage Score||0.376|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele exhibit immune system abnormalities while another null allele causes neurological abnormalities. A third null mutation results in growth retardation and abnormalities in bone mineralization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fzd9||
(F):5'- TGGATCACATACAGAGCCCC -3'
(R):5'- GCAATTCAATTTCGGCTGGC -3'
(F):5'- TACAGAGCCCCTGCCTC -3'
(R):5'- ACGCACTCTGTATGGAGGCAC -3'