Incidental Mutation 'IGL03129:Fzd8'
ID410246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Namefrizzled class receptor 8
SynonymsmFZ8, Fz8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03129
Quality Score
Status
Chromosome18
Chromosomal Location9212856-9216201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9214270 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 451 (S451P)
Ref Sequence ENSEMBL: ENSMUSP00000039660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041080]
PDB Structure
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MOUSE FRIZZLED 8 (MFZ8) [X-RAY DIFFRACTION]
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

DomainStartEndE-ValueType
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: 99,229,379 V403A probably damaging Het
Adpgk T C 9: 59,313,805 L298P probably damaging Het
Akap6 A T 12: 53,140,306 D1501V probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ankhd1 T A 18: 36,658,008 Y2478* probably null Het
Col6a3 A G 1: 90,821,862 Y417H probably damaging Het
Csmd1 A G 8: 15,961,521 F2511L probably damaging Het
Dzip3 T C 16: 48,942,083 M602V possibly damaging Het
Efna2 G A 10: 80,188,512 probably null Het
Galntl6 A T 8: 58,427,716 D134E probably damaging Het
Gm10334 T C 6: 41,443,498 N98S probably benign Het
Grid2 T C 6: 64,063,904 S277P probably damaging Het
Lcn2 A G 2: 32,387,704 V91A possibly damaging Het
Lrp1b G A 2: 41,312,466 probably benign Het
Lrrc7 T A 3: 158,161,059 Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 C2779S possibly damaging Het
Nlrp10 A T 7: 108,924,911 F454Y probably damaging Het
Obox5 T A 7: 15,758,759 L213Q probably damaging Het
Olfr97 T A 17: 37,232,196 Y58F probably damaging Het
Piezo2 T C 18: 63,114,972 M486V probably benign Het
Plcg1 A C 2: 160,774,526 probably null Het
Polr1b G A 2: 129,115,707 V561I probably benign Het
Polr3c A T 3: 96,719,454 probably benign Het
Prkg1 T A 19: 30,585,281 K523* probably null Het
Sema3b T A 9: 107,599,796 probably benign Het
Sp9 A G 2: 73,273,521 T140A probably benign Het
Zfp507 T C 7: 35,794,206 R471G probably damaging Het
Other mutations in Fzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Fzd8 APN 18 9213068 missense unknown
IGL01511:Fzd8 APN 18 9213293 missense unknown
Stilt UTSW 18 9213880 missense probably damaging 1.00
R0058:Fzd8 UTSW 18 9213985 missense possibly damaging 0.92
R0715:Fzd8 UTSW 18 9212947 missense unknown
R0966:Fzd8 UTSW 18 9214745 missense probably damaging 0.99
R1717:Fzd8 UTSW 18 9214364 missense probably damaging 1.00
R1751:Fzd8 UTSW 18 9213643 missense probably damaging 0.98
R1761:Fzd8 UTSW 18 9213643 missense probably damaging 0.98
R1905:Fzd8 UTSW 18 9213803 missense probably damaging 1.00
R1956:Fzd8 UTSW 18 9214502 missense probably damaging 1.00
R2892:Fzd8 UTSW 18 9214514 missense probably damaging 1.00
R3897:Fzd8 UTSW 18 9214939 missense possibly damaging 0.89
R3968:Fzd8 UTSW 18 9214070 missense probably damaging 0.98
R4934:Fzd8 UTSW 18 9214492 frame shift probably null
R5366:Fzd8 UTSW 18 9213880 missense probably damaging 1.00
R5624:Fzd8 UTSW 18 9213268 missense unknown
R6261:Fzd8 UTSW 18 9214598 missense possibly damaging 0.61
R6757:Fzd8 UTSW 18 9213238 missense possibly damaging 0.78
R6758:Fzd8 UTSW 18 9213238 missense possibly damaging 0.78
R6899:Fzd8 UTSW 18 9214729 missense probably damaging 0.98
R7242:Fzd8 UTSW 18 9214171 missense probably damaging 1.00
Posted On2016-08-02