Incidental Mutation 'R5624:Fzd8'
ID 441762
Institutional Source Beutler Lab
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms Fz8, mFZ8
MMRRC Submission 043163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5624 (G1)
Quality Score 182
Status Validated
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9213268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 117 (G117S)
Ref Sequence ENSEMBL: ENSMUSP00000039660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041080]
AlphaFold Q61091
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 unknown
Transcript: ENSMUST00000041080
AA Change: G117S
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: G117S

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
Meta Mutation Damage Score 0.3082 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T A 8: 120,341,844 (GRCm39) probably null Het
Aoah A T 13: 21,179,649 (GRCm39) N372I probably damaging Het
Ash1l T A 3: 88,892,916 (GRCm39) D1598E probably damaging Het
Bcas2 T C 3: 103,080,577 (GRCm39) C72R probably benign Het
Car9 T A 4: 43,509,146 (GRCm39) F238Y probably benign Het
Ccnd1 T C 7: 144,491,749 (GRCm39) S97G probably benign Het
Cfap52 C G 11: 67,818,184 (GRCm39) C509S possibly damaging Het
Clcn4 C A 7: 7,291,943 (GRCm39) V623L probably benign Het
Dnajc11 T C 4: 152,063,967 (GRCm39) V483A probably benign Het
E2f8 G T 7: 48,527,709 (GRCm39) D144E probably damaging Het
Epb41l1 G A 2: 156,375,691 (GRCm39) probably benign Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Gsdmc4 A G 15: 63,764,503 (GRCm39) M379T possibly damaging Het
Hemk1 T C 9: 107,208,727 (GRCm39) R157G probably benign Het
Il10 A G 1: 130,951,940 (GRCm39) M158V probably benign Het
Jmjd1c G A 10: 67,069,193 (GRCm39) M1656I probably damaging Het
Kit A T 5: 75,770,054 (GRCm39) K155N probably benign Het
Lmtk3 C A 7: 45,436,286 (GRCm39) A114E probably damaging Het
Lztr1 A G 16: 17,329,993 (GRCm39) probably benign Het
Mras A G 9: 99,293,538 (GRCm39) F34S probably damaging Het
Myo1c A G 11: 75,553,461 (GRCm39) T516A probably damaging Het
Nme8 A C 13: 19,862,038 (GRCm39) V197G possibly damaging Het
Or13p5 T A 4: 118,592,568 (GRCm39) Y281N probably damaging Het
Or8k39 T C 2: 86,563,149 (GRCm39) D269G probably benign Het
Pcdhb9 A T 18: 37,534,459 (GRCm39) Y151F probably benign Het
Pcnx2 C T 8: 126,488,262 (GRCm39) probably null Het
Plekhg4 T C 8: 106,107,382 (GRCm39) F892S probably damaging Het
Prmt3 T A 7: 49,430,082 (GRCm39) F62I probably damaging Het
Ralgapa1 T C 12: 55,659,523 (GRCm39) Y1999C probably damaging Het
Rims2 A T 15: 39,208,809 (GRCm39) Q204L possibly damaging Het
Slc6a16 T G 7: 44,910,532 (GRCm39) H352Q probably benign Het
Snx9 T A 17: 5,942,084 (GRCm39) C70* probably null Het
Srprb A G 9: 103,074,800 (GRCm39) I114T probably damaging Het
Tas2r119 A T 15: 32,178,114 (GRCm39) I227F probably damaging Het
Tasor2 A G 13: 3,634,996 (GRCm39) S604P possibly damaging Het
Tg A T 15: 66,709,906 (GRCm39) Y163F probably benign Het
Tm2d2 A G 8: 25,512,784 (GRCm39) T211A probably damaging Het
Tmem132b A G 5: 125,699,710 (GRCm39) S83G probably benign Het
Trav9-4 T C 14: 53,913,886 (GRCm39) S47P probably benign Het
Vmn2r8 T A 5: 108,950,325 (GRCm39) H174L probably damaging Het
Xrcc1 A G 7: 24,259,270 (GRCm39) D85G possibly damaging Het
Zfp106 C G 2: 120,362,438 (GRCm39) A34P probably damaging Het
Zfp608 A T 18: 55,031,344 (GRCm39) N865K probably damaging Het
Zscan5b A G 7: 6,233,518 (GRCm39) D114G 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
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
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
(F):5'- GGTTACAACTACACTTACATGCCC -3'
(R):5'- TCTTGACGCGGTTGTAGAGC -3'

Sequencing Primer
(F):5'- GTTCAACCACGACACGCAAGATG -3'
(R):5'- TGGACACGCTCACCATGG -3'
Posted On 2016-11-08