Incidental Mutation 'R1761:Fzd8'
ID 192815
Institutional Source Beutler Lab
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms Fz8, mFZ8
MMRRC Submission 039793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1761 (G1)
Quality Score 156
Status Not validated
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9213643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 242 (R242C)
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: R242C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: R242C

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
Meta Mutation Damage Score 0.1595 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,672 (GRCm39) H1268Y possibly damaging Het
Acan T A 7: 78,743,833 (GRCm39) Y621* probably null Het
Aig1 T C 10: 13,566,328 (GRCm39) Y152C probably damaging Het
Arhgap33 C T 7: 30,232,488 (GRCm39) probably null Het
Bcl6 G T 16: 23,796,292 (GRCm39) A45D probably damaging Het
Cbx5 T C 15: 103,121,607 (GRCm39) D10G possibly damaging Het
Ccdc191 A G 16: 43,763,873 (GRCm39) I445V probably benign Het
Cdk4 T A 10: 126,900,546 (GRCm39) probably benign Het
Chil6 A G 3: 106,301,654 (GRCm39) F149L probably damaging Het
Cntn5 T C 9: 10,172,059 (GRCm39) T42A probably benign Het
Cpn2 A T 16: 30,079,014 (GRCm39) I229N probably damaging Het
Cpne8 A G 15: 90,532,821 (GRCm39) V62A probably damaging Het
Cr2 A G 1: 194,837,431 (GRCm39) probably null Het
Crnn A T 3: 93,055,958 (GRCm39) H248L probably benign Het
Csn1s1 A G 5: 87,826,894 (GRCm39) S254G probably benign Het
Cubn A G 2: 13,494,128 (GRCm39) probably null Het
Dnah8 A G 17: 30,998,890 (GRCm39) N3525S probably damaging Het
Dpp3 A G 19: 4,971,177 (GRCm39) L220P probably benign Het
Fam110a T C 2: 151,812,125 (GRCm39) E215G probably benign Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Fat4 T C 3: 38,941,638 (GRCm39) V177A possibly damaging Het
Gimap5 A T 6: 48,730,195 (GRCm39) Q255L probably damaging Het
Gm4787 A G 12: 81,423,950 (GRCm39) L736S probably benign Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gpr156 T C 16: 37,807,929 (GRCm39) L192P probably damaging Het
Gpr179 A C 11: 97,225,932 (GRCm39) S2074R probably benign Het
Hddc2 G T 10: 31,202,135 (GRCm39) D161Y probably damaging Het
Hlcs T C 16: 94,068,866 (GRCm39) D265G probably benign Het
Hspg2 A T 4: 137,241,984 (GRCm39) I573F possibly damaging Het
Il1b T C 2: 129,207,101 (GRCm39) K220E probably damaging Het
Il5 T C 11: 53,614,557 (GRCm39) I66T probably damaging Het
Irf6 G A 1: 192,851,609 (GRCm39) R400H probably damaging Het
Klra1 A T 6: 130,349,836 (GRCm39) Y201N probably damaging Het
Lmf2 A G 15: 89,236,916 (GRCm39) V442A possibly damaging Het
Mcm2 T C 6: 88,866,770 (GRCm39) I412M possibly damaging Het
Mlkl T A 8: 112,060,355 (GRCm39) L18F possibly damaging Het
Mug2 C A 6: 122,051,664 (GRCm39) H949N probably benign Het
Nf1 T C 11: 79,275,091 (GRCm39) F51L probably damaging Het
Or52j3 T G 7: 102,836,325 (GRCm39) C172W probably damaging Het
Or7d10 A T 9: 19,832,445 (GRCm39) *313C probably null Het
Or8k18 T G 2: 86,085,383 (GRCm39) Y218S probably damaging Het
P3h2 T C 16: 25,803,800 (GRCm39) E322G probably damaging Het
Pramel21 T C 4: 143,342,438 (GRCm39) Y182H probably benign Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptdss1 T C 13: 67,104,476 (GRCm39) V116A possibly damaging Het
Ranbp2 T C 10: 58,321,563 (GRCm39) V2620A probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Scg3 T A 9: 75,584,040 (GRCm39) I154F probably damaging Het
Scgn A T 13: 24,143,689 (GRCm39) F225Y probably damaging Het
Sec61b T C 4: 47,480,137 (GRCm39) C58R possibly damaging Het
Slc25a46 G T 18: 31,740,315 (GRCm39) Q96K possibly damaging Het
Spmip6 G A 4: 41,507,223 (GRCm39) P109L probably damaging Het
Sptb A G 12: 76,659,382 (GRCm39) F1173L probably damaging Het
Srcap T A 7: 127,134,017 (GRCm39) C893S probably damaging Het
Tet3 T C 6: 83,380,641 (GRCm39) E509G probably damaging Het
Timm10b C T 7: 105,332,915 (GRCm39) R897* probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tom1 T C 8: 75,778,179 (GRCm39) V87A probably benign Het
Tti1 T C 2: 157,849,617 (GRCm39) I541V probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Vgll3 A T 16: 65,636,614 (GRCm39) D310V probably damaging Het
Vmac A G 17: 57,022,788 (GRCm39) L74P probably damaging Het
Zbtb1 A T 12: 76,432,595 (GRCm39) K194* probably null Het
Zfp429 A G 13: 67,544,195 (GRCm39) M76T probably benign Het
Zfp808 T A 13: 62,319,460 (GRCm39) C230S possibly damaging Het
Zfp980 A G 4: 145,428,612 (GRCm39) Y447C probably damaging Het
Zfp985 A G 4: 147,668,502 (GRCm39) T457A probably benign 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
IGL03129:Fzd8 APN 18 9,214,270 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23