Incidental Mutation 'R0478:Fzd6'
ID261894
Institutional Source Beutler Lab
Gene Symbol Fzd6
Ensembl Gene ENSMUSG00000022297
Gene Namefrizzled class receptor 6
SynonymsFz6
MMRRC Submission 038678-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0478 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location39006034-39038188 bp(+) (GRCm38)
Type of Mutationintron (36 bp from exon)
DNA Base Change (assembly) A to G at 39034034 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022906] [ENSMUST00000179165]
Predicted Effect probably null
Transcript: ENSMUST00000022906
SMART Domains Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
FRI 23 134 9.66e-59 SMART
Frizzled 188 513 4.88e-184 SMART
low complexity region 532 543 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000179165
SMART Domains Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
FRI 23 134 9.66e-59 SMART
Frizzled 188 513 4.88e-184 SMART
low complexity region 532 543 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mice for one mutation display abnormal hair follicle orientation. Another 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,562,589 noncoding transcript Het
4930556J24Rik T G 11: 3,976,259 probably benign Het
Acnat1 T G 4: 49,450,901 D70A probably damaging Het
Adnp2 A G 18: 80,129,334 V620A probably benign Het
Aldoart1 T A 4: 72,852,343 H21L probably benign Het
Birc3 A G 9: 7,860,347 V290A probably damaging Het
Bpifb3 C T 2: 153,931,480 probably benign Het
Camta1 C A 4: 151,075,140 R1614L probably damaging Het
Clmn A G 12: 104,785,491 M235T probably damaging Het
Dmbt1 A G 7: 131,041,187 E245G possibly damaging Het
Epgn G T 5: 91,031,128 V36L probably benign Het
Ets2 C A 16: 95,716,262 P346Q probably damaging Het
Fam222b T C 11: 78,153,856 L81P probably damaging Het
Fancf A C 7: 51,861,692 L188R probably damaging Het
Fibin T C 2: 110,362,734 D21G possibly damaging Het
Gbp4 T A 5: 105,119,433 Q540L probably benign Het
Greb1l T A 18: 10,509,281 L531Q probably damaging Het
Il5ra A G 6: 106,738,462 V137A probably benign Het
Kif26a G A 12: 112,175,789 A826T probably damaging Het
Kiz T C 2: 146,942,158 V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 G15D probably damaging Het
Kmt2d G A 15: 98,853,581 probably benign Het
Lbp T C 2: 158,317,528 probably benign Het
Mmp25 T C 17: 23,632,782 T318A probably benign Het
Mrpl50 A G 4: 49,514,513 C53R probably damaging Het
Msl3l2 G C 10: 56,115,315 E45D probably damaging Het
Nfxl1 A G 5: 72,524,645 probably null Het
Noc3l A G 19: 38,810,006 probably null Het
Olfr1126 T A 2: 87,458,026 V287E probably damaging Het
Olfr1375 T C 11: 51,048,712 S202P probably benign Het
Pgm5 A T 19: 24,834,869 S100T possibly damaging Het
Pi4ka C T 16: 17,309,311 G1093S possibly damaging Het
Pitrm1 T A 13: 6,559,395 S350T probably damaging Het
Ptk2b G T 14: 66,213,372 N48K probably damaging Het
Sept3 T C 15: 82,290,806 L172P probably damaging Het
Sirt3 A T 7: 140,878,114 C41S probably benign Het
Sphkap C T 1: 83,278,711 R152H probably damaging Het
St3gal1 T C 15: 67,113,730 Y25C probably damaging Het
Tbc1d31 T C 15: 57,932,536 F175S probably damaging Het
Tfdp2 T A 9: 96,290,583 D43E probably benign Het
Tgm1 G A 14: 55,700,334 Q773* probably null Het
Tmc3 A T 7: 83,622,152 R837S possibly damaging Het
Unc13a A G 8: 71,651,148 V880A possibly damaging Het
Vmn1r237 T A 17: 21,314,819 V268E probably damaging Het
Zan C T 5: 137,400,526 probably benign Het
Zfp760 G T 17: 21,722,014 E57* probably null Het
Other mutations in Fzd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02470:Fzd6 APN 15 39036557 utr 3 prime probably benign
IGL02500:Fzd6 APN 15 39031386 missense probably damaging 1.00
IGL02938:Fzd6 APN 15 39033890 missense probably benign 0.03
IGL03219:Fzd6 APN 15 39031576 missense probably damaging 1.00
R0314:Fzd6 UTSW 15 39025733 missense possibly damaging 0.88
R0458:Fzd6 UTSW 15 39031281 missense probably damaging 1.00
R0961:Fzd6 UTSW 15 39025678 missense probably damaging 1.00
R1473:Fzd6 UTSW 15 39030963 missense probably damaging 1.00
R1479:Fzd6 UTSW 15 39030999 missense probably damaging 1.00
R1533:Fzd6 UTSW 15 39031624 missense probably damaging 1.00
R1731:Fzd6 UTSW 15 39031327 missense probably damaging 1.00
R1836:Fzd6 UTSW 15 39033920 missense probably damaging 1.00
R2241:Fzd6 UTSW 15 39031536 missense probably damaging 0.96
R5089:Fzd6 UTSW 15 39007480 missense probably damaging 1.00
R5526:Fzd6 UTSW 15 39031164 missense possibly damaging 0.89
R5666:Fzd6 UTSW 15 39031115 missense probably benign 0.32
R5670:Fzd6 UTSW 15 39031115 missense probably benign 0.32
R5903:Fzd6 UTSW 15 39007388 start codon destroyed probably null 0.99
R6221:Fzd6 UTSW 15 39030844 missense probably benign 0.00
R6944:Fzd6 UTSW 15 39025817 missense possibly damaging 0.69
R7731:Fzd6 UTSW 15 39033932 missense probably damaging 1.00
Z1177:Fzd6 UTSW 15 39007561 missense possibly damaging 0.72
Z1177:Fzd6 UTSW 15 39031341 missense probably damaging 1.00
Predicted Primers
Posted On2015-02-04