Incidental Mutation 'R6758:Fzd8'
ID 531123
Institutional Source Beutler Lab
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms mFZ8, Fz8
MMRRC Submission 044874-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9213238 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 107 (C107S)
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 possibly damaging
Transcript: ENSMUST00000041080
AA Change: C107S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: C107S

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T C 11: 23,588,475 (GRCm38) probably null Het
Ankrd17 A T 5: 90,263,313 (GRCm38) D1374E probably damaging Het
Cd96 C A 16: 46,118,004 (GRCm38) V33L possibly damaging Het
Drd1 T C 13: 54,053,289 (GRCm38) E295G probably benign Het
Gm10801 C CGTG 2: 98,663,807 (GRCm38) probably null Het
Gm11595 C A 11: 99,772,540 (GRCm38) V105L unknown Het
Gm11595 A T 11: 99,772,541 (GRCm38) C104* probably null Het
Igsf3 T C 3: 101,425,498 (GRCm38) Y31H probably damaging Het
Ikzf2 A T 1: 69,538,900 (GRCm38) H483Q probably damaging Het
Itgbl1 A G 14: 123,857,489 (GRCm38) K309E probably benign Het
Myt1l T G 12: 29,842,600 (GRCm38) Y79D possibly damaging Het
Nid2 T A 14: 19,802,483 (GRCm38) S1086R probably damaging Het
Olfr107 A G 17: 37,405,695 (GRCm38) D49G probably damaging Het
Olfr192 T C 16: 59,098,965 (GRCm38) E9G probably damaging Het
Olfr808 T C 10: 129,768,051 (GRCm38) I185T probably damaging Het
Rorc A G 3: 94,387,518 (GRCm38) N51S possibly damaging Het
Simc1 C T 13: 54,525,548 (GRCm38) P570S possibly damaging Het
Smn1 T A 13: 100,132,438 (GRCm38) M264K possibly damaging Het
Tiam2 A G 17: 3,518,403 (GRCm38) D1608G probably benign Het
Tll1 C A 8: 64,041,405 (GRCm38) probably null Het
Trim15 A G 17: 36,862,341 (GRCm38) L284P probably benign 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
R2892:Fzd8 UTSW 18 9,214,514 (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
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 2018-08-01