Incidental Mutation 'IGL03129:Fzd8'
ID 410246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms Fz8, mFZ8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03129
Quality Score
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9214270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 451 (S451P)
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: S451P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: S451P

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,238 (GRCm39) V403A probably damaging Het
Adpgk T C 9: 59,221,088 (GRCm39) L298P probably damaging Het
Akap6 A T 12: 53,187,089 (GRCm39) D1501V probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Col6a3 A G 1: 90,749,584 (GRCm39) Y417H probably damaging Het
Csmd1 A G 8: 16,011,521 (GRCm39) F2511L probably damaging Het
Dzip3 T C 16: 48,762,446 (GRCm39) M602V possibly damaging Het
Efna2 G A 10: 80,024,346 (GRCm39) probably null Het
Galntl6 A T 8: 58,880,750 (GRCm39) D134E probably damaging Het
Grid2 T C 6: 64,040,888 (GRCm39) S277P probably damaging Het
Lcn2 A G 2: 32,277,716 (GRCm39) V91A possibly damaging Het
Lrp1b G A 2: 41,202,478 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,866,696 (GRCm39) Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 (GRCm39) C2779S possibly damaging Het
Nlrp10 A T 7: 108,524,118 (GRCm39) F454Y probably damaging Het
Obox5 T A 7: 15,492,684 (GRCm39) L213Q probably damaging Het
Or1o2 T A 17: 37,543,087 (GRCm39) Y58F probably damaging Het
Piezo2 T C 18: 63,248,043 (GRCm39) M486V probably benign Het
Plcg1 A C 2: 160,616,446 (GRCm39) probably null Het
Polr1b G A 2: 128,957,627 (GRCm39) V561I probably benign Het
Polr3c A T 3: 96,626,770 (GRCm39) probably benign Het
Prkg1 T A 19: 30,562,681 (GRCm39) K523* probably null Het
Prss3l T C 6: 41,420,432 (GRCm39) N98S probably benign Het
Sema3b T A 9: 107,476,995 (GRCm39) probably benign Het
Sp9 A G 2: 73,103,865 (GRCm39) T140A probably benign Het
Zfp507 T C 7: 35,493,631 (GRCm39) R471G probably damaging Het
Other mutations in Fzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Fzd8 APN 18 9,213,068 (GRCm39) missense unknown
IGL01511:Fzd8 APN 18 9,213,293 (GRCm39) missense unknown
Stilt UTSW 18 9,213,880 (GRCm39) missense probably damaging 1.00
R0058:Fzd8 UTSW 18 9,213,985 (GRCm39) missense possibly damaging 0.92
R0715:Fzd8 UTSW 18 9,212,947 (GRCm39) missense unknown
R0966:Fzd8 UTSW 18 9,214,745 (GRCm39) missense probably damaging 0.99
R1717:Fzd8 UTSW 18 9,214,364 (GRCm39) missense probably damaging 1.00
R1751:Fzd8 UTSW 18 9,213,643 (GRCm39) missense probably damaging 0.98
R1761:Fzd8 UTSW 18 9,213,643 (GRCm39) missense probably damaging 0.98
R1905:Fzd8 UTSW 18 9,213,803 (GRCm39) missense probably damaging 1.00
R1956:Fzd8 UTSW 18 9,214,502 (GRCm39) missense probably damaging 1.00
R2892:Fzd8 UTSW 18 9,214,514 (GRCm39) missense probably damaging 1.00
R3897:Fzd8 UTSW 18 9,214,939 (GRCm39) missense possibly damaging 0.89
R3968:Fzd8 UTSW 18 9,214,070 (GRCm39) missense probably damaging 0.98
R4934:Fzd8 UTSW 18 9,214,492 (GRCm39) frame shift probably null
R5366:Fzd8 UTSW 18 9,213,880 (GRCm39) missense probably damaging 1.00
R5624:Fzd8 UTSW 18 9,213,268 (GRCm39) missense unknown
R6261:Fzd8 UTSW 18 9,214,598 (GRCm39) missense possibly damaging 0.61
R6757:Fzd8 UTSW 18 9,213,238 (GRCm39) missense possibly damaging 0.78
R6758:Fzd8 UTSW 18 9,213,238 (GRCm39) missense possibly damaging 0.78
R6899:Fzd8 UTSW 18 9,214,729 (GRCm39) missense probably damaging 0.98
R7242:Fzd8 UTSW 18 9,214,171 (GRCm39) missense probably damaging 1.00
R8140:Fzd8 UTSW 18 9,213,797 (GRCm39) missense probably damaging 1.00
R8324:Fzd8 UTSW 18 9,214,688 (GRCm39) missense probably damaging 1.00
R8722:Fzd8 UTSW 18 9,213,686 (GRCm39) missense possibly damaging 0.67
R8818:Fzd8 UTSW 18 9,214,474 (GRCm39) missense probably benign 0.26
R8820:Fzd8 UTSW 18 9,213,247 (GRCm39) missense unknown
R8913:Fzd8 UTSW 18 9,213,869 (GRCm39) missense probably damaging 1.00
R9036:Fzd8 UTSW 18 9,214,661 (GRCm39) missense probably damaging 1.00
R9401:Fzd8 UTSW 18 9,213,205 (GRCm39) missense possibly damaging 0.78
Posted On 2016-08-02