Incidental Mutation 'R2892:Fzd8'
ID 260145
Institutional Source Beutler Lab
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms mFZ8, Fz8
MMRRC Submission 040480-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2892 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9214514 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 532 (G532V)
Ref Sequence ENSEMBL: ENSMUSP00000039660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041080]
AlphaFold Q61091
Crystal structure of XWnt8 in complex with the cysteine-rich domain of Frizzled 8 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000041080
AA Change: G532V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: G532V

signal peptide 1 27 N/A INTRINSIC
FRI 34 153 9.06e-73 SMART
low complexity region 161 228 N/A INTRINSIC
Frizzled 264 621 1.47e-219 SMART
low complexity region 624 655 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,594,317 (GRCm38) D232G probably damaging Het
Ank2 T C 3: 127,248,243 (GRCm38) probably null Het
Atp6v0a4 T C 6: 38,053,017 (GRCm38) E704G probably benign Het
Bbx A G 16: 50,224,741 (GRCm38) Y378H probably damaging Het
Carmil3 T C 14: 55,498,313 (GRCm38) V574A probably damaging Het
Cpz A G 5: 35,511,129 (GRCm38) V379A probably damaging Het
Cyp4f15 A G 17: 32,686,208 (GRCm38) D55G probably benign Het
Dcun1d2 A T 8: 13,278,649 (GRCm38) I86N probably damaging Het
Defa30 A T 8: 21,134,663 (GRCm38) M1L probably damaging Het
Gcfc2 T C 6: 81,956,913 (GRCm38) F717S possibly damaging Het
Gckr T C 5: 31,326,472 (GRCm38) V563A probably benign Het
Ighv1-24 T G 12: 114,773,059 (GRCm38) K74Q probably benign Het
Kcnj3 A T 2: 55,447,015 (GRCm38) I298F probably damaging Het
Miga2 A T 2: 30,378,294 (GRCm38) probably null Het
Mmrn2 T G 14: 34,396,630 (GRCm38) F158V probably benign Het
Mug1 G A 6: 121,840,070 (GRCm38) V33M possibly damaging Het
Myom1 T C 17: 71,034,653 (GRCm38) S136P probably damaging Het
Nadk A G 4: 155,587,360 (GRCm38) N232S possibly damaging Het
Olfr815 A G 10: 129,901,940 (GRCm38) Y257H possibly damaging Het
Olfr845 A G 9: 19,338,738 (GRCm38) T93A probably benign Het
Pcnx2 A G 8: 125,891,058 (GRCm38) S153P probably damaging Het
Pde8b T C 13: 95,034,259 (GRCm38) D633G probably damaging Het
Pik3ap1 G A 19: 41,376,061 (GRCm38) A73V probably benign Het
Plrg1 C A 3: 83,071,240 (GRCm38) Q438K probably damaging Het
Plxna4 A G 6: 32,517,037 (GRCm38) Y215H probably damaging Het
Rapsn A T 2: 91,036,824 (GRCm38) D157V probably damaging Het
Rock1 G A 18: 10,072,863 (GRCm38) Q1161* probably null Het
Snrnp200 T C 2: 127,231,777 (GRCm38) L1365P probably damaging Het
Srcap T C 7: 127,539,065 (GRCm38) S1136P probably damaging Het
Trim80 A G 11: 115,448,023 (GRCm38) T560A possibly damaging Het
Ttll2 T C 17: 7,352,699 (GRCm38) probably null Het
Usp8 A T 2: 126,758,155 (GRCm38) Q998L probably damaging Het
Vpreb3 C T 10: 75,943,222 (GRCm38) probably benign Het
Zfp82 G A 7: 30,056,439 (GRCm38) T406I probably damaging Het
Other mutations in Fzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Fzd8 APN 18 9,213,068 (GRCm38) missense unknown
IGL01511:Fzd8 APN 18 9,213,293 (GRCm38) missense unknown
IGL03129:Fzd8 APN 18 9,214,270 (GRCm38) missense probably damaging 1.00
Stilt UTSW 18 9,213,880 (GRCm38) missense probably damaging 1.00
R0058:Fzd8 UTSW 18 9,213,985 (GRCm38) missense possibly damaging 0.92
R0715:Fzd8 UTSW 18 9,212,947 (GRCm38) missense unknown
R0966:Fzd8 UTSW 18 9,214,745 (GRCm38) missense probably damaging 0.99
R1717:Fzd8 UTSW 18 9,214,364 (GRCm38) missense probably damaging 1.00
R1751:Fzd8 UTSW 18 9,213,643 (GRCm38) missense probably damaging 0.98
R1761:Fzd8 UTSW 18 9,213,643 (GRCm38) missense probably damaging 0.98
R1905:Fzd8 UTSW 18 9,213,803 (GRCm38) missense probably damaging 1.00
R1956:Fzd8 UTSW 18 9,214,502 (GRCm38) missense probably damaging 1.00
R3897:Fzd8 UTSW 18 9,214,939 (GRCm38) missense possibly damaging 0.89
R3968:Fzd8 UTSW 18 9,214,070 (GRCm38) missense probably damaging 0.98
R4934:Fzd8 UTSW 18 9,214,492 (GRCm38) frame shift probably null
R5366:Fzd8 UTSW 18 9,213,880 (GRCm38) missense probably damaging 1.00
R5624:Fzd8 UTSW 18 9,213,268 (GRCm38) missense unknown
R6261:Fzd8 UTSW 18 9,214,598 (GRCm38) missense possibly damaging 0.61
R6757:Fzd8 UTSW 18 9,213,238 (GRCm38) missense possibly damaging 0.78
R6758:Fzd8 UTSW 18 9,213,238 (GRCm38) missense possibly damaging 0.78
R6899:Fzd8 UTSW 18 9,214,729 (GRCm38) missense probably damaging 0.98
R7242:Fzd8 UTSW 18 9,214,171 (GRCm38) missense probably damaging 1.00
R8140:Fzd8 UTSW 18 9,213,797 (GRCm38) missense probably damaging 1.00
R8324:Fzd8 UTSW 18 9,214,688 (GRCm38) missense probably damaging 1.00
R8722:Fzd8 UTSW 18 9,213,686 (GRCm38) missense possibly damaging 0.67
R8818:Fzd8 UTSW 18 9,214,474 (GRCm38) missense probably benign 0.26
R8820:Fzd8 UTSW 18 9,213,247 (GRCm38) missense unknown
R8913:Fzd8 UTSW 18 9,213,869 (GRCm38) missense probably damaging 1.00
R9036:Fzd8 UTSW 18 9,214,661 (GRCm38) missense probably damaging 1.00
R9401:Fzd8 UTSW 18 9,213,205 (GRCm38) missense possibly damaging 0.78
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-01-23