Incidental Mutation 'R9401:Fzd8'
ID 711257
Institutional Source Beutler Lab
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms Fz8, mFZ8
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9401 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9213205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 96 (C96S)
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 possibly damaging
Transcript: ENSMUST00000041080
AA Change: C96S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: C96S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,780,785 (GRCm39) D850G probably benign Het
Abcc9 T A 6: 142,543,836 (GRCm39) T1480S possibly damaging Het
Adgrb3 C A 1: 25,592,783 (GRCm39) V335F probably damaging Het
Agfg1 C A 1: 82,859,958 (GRCm39) A275D probably benign Het
Alms1 T A 6: 85,655,001 (GRCm39) C2713* probably null Het
Atp8a1 G A 5: 67,906,492 (GRCm39) A474V Het
Baz1a C A 12: 54,963,339 (GRCm39) S918I probably damaging Het
Bcl2l12 G T 7: 44,643,674 (GRCm39) T120K possibly damaging Het
Bcl6 G T 16: 23,791,107 (GRCm39) Q416K possibly damaging Het
Cdhr1 T A 14: 36,820,055 (GRCm39) I16F probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cilp T C 9: 65,185,381 (GRCm39) V492A probably damaging Het
Crim1 CCGC CC 17: 78,658,294 (GRCm39) probably null Het
Crppa T C 12: 36,552,073 (GRCm39) V309A probably benign Het
Ctcfl T G 2: 172,947,881 (GRCm39) T479P probably damaging Het
Dlx6 A C 6: 6,863,581 (GRCm39) M68L probably benign Het
Dnah7a C A 1: 53,568,026 (GRCm39) V1857F probably benign Het
Dpy19l4 A G 4: 11,265,806 (GRCm39) V714A probably benign Het
Elovl7 T A 13: 108,419,188 (GRCm39) N273K probably benign Het
Fbxo22 A G 9: 55,130,628 (GRCm39) K299R probably benign Het
Fig4 A G 10: 41,143,733 (GRCm39) V242A probably benign Het
Fmo9 A T 1: 166,505,189 (GRCm39) M68K probably damaging Het
Fry T A 5: 150,302,403 (GRCm39) Y537N probably damaging Het
Fryl C T 5: 73,222,563 (GRCm39) W2006* probably null Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gspt1 T C 16: 11,050,535 (GRCm39) D272G possibly damaging Het
Gzmf A T 14: 56,448,813 (GRCm39) M1K probably null Het
Hipk1 T C 3: 103,685,295 (GRCm39) T107A probably benign Het
Hsd3b9 T G 3: 98,363,819 (GRCm39) T9P probably damaging Het
Ighe C T 12: 113,233,107 (GRCm39) C438Y Het
Igkv4-50 T A 6: 69,677,967 (GRCm39) R46W Het
Igsf3 T A 3: 101,333,075 (GRCm39) Y118N probably damaging Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Jph3 A G 8: 122,511,854 (GRCm39) E614G probably damaging Het
Klk1b8 T A 7: 43,603,674 (GRCm39) D170E probably benign Het
Ly6e A T 15: 74,830,153 (GRCm39) K36* probably null Het
Map3k6 C A 4: 132,968,467 (GRCm39) A23E probably damaging Het
Med13l T A 5: 118,883,089 (GRCm39) M1316K probably benign Het
Or5c1 T C 2: 37,222,293 (GRCm39) V178A possibly damaging Het
Or6c76b A G 10: 129,693,298 (GRCm39) R304G probably benign Het
Or8u3-ps A T 2: 85,952,368 (GRCm39) I34F possibly damaging Het
Pih1d2 T A 9: 50,529,905 (GRCm39) C45S probably damaging Het
Pik3r2 G A 8: 71,223,737 (GRCm39) S318L possibly damaging Het
Pknox1 T C 17: 31,802,752 (GRCm39) I9T probably benign Het
Pknox2 T C 9: 36,835,041 (GRCm39) I143V probably damaging Het
Polr1d A G 5: 147,015,488 (GRCm39) Y57C probably damaging Het
Pum3 A T 19: 27,376,336 (GRCm39) D527E probably benign Het
Rars2 T A 4: 34,654,819 (GRCm39) H374Q probably damaging Het
Rassf9 G A 10: 102,348,369 (GRCm39) probably benign Het
Rbl1 T A 2: 157,016,742 (GRCm39) H619L possibly damaging Het
Scamp4 T C 10: 80,448,238 (GRCm39) V153A probably benign Het
Sec23b T G 2: 144,420,286 (GRCm39) I450S probably benign Het
Slc35b2 A G 17: 45,877,910 (GRCm39) I297V probably benign Het
Slc4a4 C T 5: 89,327,525 (GRCm39) T654I probably damaging Het
Slc6a5 T A 7: 49,601,185 (GRCm39) M662K probably damaging Het
Smarcad1 T C 6: 65,071,321 (GRCm39) Y589H probably benign Het
Spata31d1e T C 13: 59,890,012 (GRCm39) T603A probably benign Het
Stab1 A T 14: 30,883,069 (GRCm39) F374I probably benign Het
Stat5a C T 11: 100,756,254 (GRCm39) T158M possibly damaging Het
Trpc3 A T 3: 36,675,503 (GRCm39) Y878* probably null Het
Ubr1 T A 2: 120,765,765 (GRCm39) T491S probably benign Het
Uggt1 C T 1: 36,255,212 (GRCm39) probably null Het
Ugt1a6a T A 1: 88,066,882 (GRCm39) Y229* probably null Het
Vmn1r225 G A 17: 20,722,911 (GRCm39) W117* probably null Het
Vmn1r225 A C 17: 20,722,912 (GRCm39) K118Q probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r116 T C 17: 23,620,566 (GRCm39) S767P probably damaging Het
Wdr90 AGAC AGACGAC 17: 26,064,750 (GRCm39) probably benign Het
Ythdf3 C T 3: 16,258,659 (GRCm39) P280S probably damaging Het
Zbbx A G 3: 75,019,390 (GRCm39) S107P probably benign Het
Zdhhc7 A T 8: 120,813,425 (GRCm39) V128E probably benign Het
Zfp235 A G 7: 23,841,551 (GRCm39) S657G probably damaging Het
Zfp442 T A 2: 150,251,615 (GRCm39) I96F possibly damaging Het
Zfp84 G A 7: 29,476,297 (GRCm39) E330K 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGGAAGTGACCTCGCTCCTAG -3'
(R):5'- AGTCCATGCACAGAGTGTC -3'

Sequencing Primer
(F):5'- TGCCAAGAGATCACGGTGC -3'
(R):5'- ACAGAGTGTCCGGGTTGC -3'
Posted On 2022-05-16