Incidental Mutation 'R1533:Fzd6'
ID166777
Institutional Source Beutler Lab
Gene Symbol Fzd6
Ensembl Gene ENSMUSG00000022297
Gene Namefrizzled class receptor 6
SynonymsFz6
MMRRC Submission 039572-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1533 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location39006034-39038188 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39031624 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 395 (H395L)
Ref Sequence ENSEMBL: ENSMUSP00000136328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022906] [ENSMUST00000179165]
Predicted Effect probably damaging
Transcript: ENSMUST00000022906
AA Change: H395L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: H395L

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 damaging
Transcript: ENSMUST00000179165
AA Change: H395L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: H395L

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G T 3: 37,041,375 G4509V probably damaging Het
Abca4 G C 3: 122,135,158 G1340A probably benign Het
Ambra1 T A 2: 91,886,865 Y836N probably damaging Het
Arhgap26 A T 18: 39,371,077 H144L probably benign Het
B3gnt5 A G 16: 19,769,614 I194M probably damaging Het
Bod1l A T 5: 41,822,155 C605* probably null Het
C2cd3 G T 7: 100,406,077 K482N possibly damaging Het
Ccdc114 T A 7: 45,942,858 M354K probably benign Het
Cd300lg T A 11: 102,043,221 L98Q probably damaging Het
Cerkl T A 2: 79,341,357 I386F possibly damaging Het
Cfh T A 1: 140,100,978 D466V possibly damaging Het
Crtc1 A T 8: 70,398,299 I221N probably damaging Het
Ctnnbl1 T C 2: 157,836,643 S389P probably benign Het
Ctsb A T 14: 63,139,095 D258V probably damaging Het
Cuzd1 G T 7: 131,311,703 T395N probably damaging Het
Dnah6 T C 6: 73,151,553 T1240A probably benign Het
Dok7 T A 5: 35,064,327 probably null Het
Dscaml1 T C 9: 45,450,584 V214A probably damaging Het
Enpp6 A T 8: 47,065,434 Y199F probably benign Het
Entpd5 C A 12: 84,394,660 K111N probably damaging Het
Fam98a A G 17: 75,541,281 L146S probably damaging Het
Fhod3 A T 18: 25,115,864 I1367F probably damaging Het
Fmnl2 A G 2: 53,105,537 E424G probably damaging Het
Fpr3 T A 17: 17,970,660 Y64* probably null Het
Gcsh T A 8: 116,989,182 H54L probably damaging Het
Gsdma T A 11: 98,676,384 S437T unknown Het
Gzmc A G 14: 56,233,919 V55A probably damaging Het
Hecw2 T A 1: 53,926,545 probably null Het
Ifi207 A G 1: 173,727,740 V792A probably benign Het
Itpr3 C A 17: 27,095,560 N661K possibly damaging Het
Jmy A T 13: 93,441,311 I783N probably benign Het
Kcmf1 T C 6: 72,843,020 E281G possibly damaging Het
Klra3 G C 6: 130,333,144 R138G probably benign Het
Lgr6 T A 1: 135,104,932 Y70F possibly damaging Het
Lnx1 T G 5: 74,620,017 D330A probably damaging Het
Lrp5 T C 19: 3,614,234 N106S probably benign Het
Mamdc4 C A 2: 25,569,747 R135L possibly damaging Het
Mcm3ap A G 10: 76,504,287 E1464G probably damaging Het
Megf8 T C 7: 25,334,855 V666A possibly damaging Het
Mettl3 T A 14: 52,296,928 E331D probably benign Het
Mphosph9 T C 5: 124,267,141 K789R probably damaging Het
Mtf2 T C 5: 108,092,129 L234P probably damaging Het
Ncdn C A 4: 126,748,698 E389* probably null Het
Ndor1 A G 2: 25,249,267 S231P probably damaging Het
Nelfa T G 5: 33,898,871 K483Q probably damaging Het
Olfr311 A G 11: 58,841,966 N284S probably damaging Het
Olfr538 T A 7: 140,575,121 probably null Het
Opn1sw C T 6: 29,378,924 R243Q probably benign Het
Pik3cd T C 4: 149,655,196 E584G probably damaging Het
Plcb3 A T 19: 6,957,673 M870K possibly damaging Het
Poc5 A G 13: 96,391,644 D16G probably damaging Het
Prpf40a A G 2: 53,145,840 I633T probably damaging Het
Ptpn13 G T 5: 103,556,178 E1359* probably null Het
Ptprr C A 10: 116,188,208 Y4* probably null Het
Rbm45 T C 2: 76,372,159 probably null Het
Rfng C T 11: 120,781,861 W320* probably null Het
Rgs6 G T 12: 83,091,773 V294L probably benign Het
Rufy4 T C 1: 74,129,843 probably null Het
Ruvbl2 T A 7: 45,424,142 N313I probably damaging Het
Sema4g G A 19: 44,992,817 V70M probably damaging Het
Siglec1 T C 2: 131,076,158 T969A probably benign Het
Slc22a27 T A 19: 7,866,983 T431S possibly damaging Het
Slc25a16 G A 10: 62,920,864 R38H probably damaging Het
Slc38a6 T C 12: 73,344,852 V296A probably benign Het
Slc39a11 C T 11: 113,305,922 V212I probably damaging Het
Sltm A G 9: 70,586,666 K782E probably damaging Het
Styxl1 T A 5: 135,770,321 Y23F probably damaging Het
Svs4 T C 2: 164,278,228 I20V unknown Het
Syt14 G T 1: 192,930,776 T572K possibly damaging Het
Tbc1d5 A T 17: 50,920,575 I214N possibly damaging Het
Tm9sf3 A G 19: 41,238,784 S283P probably benign Het
Tmtc1 C T 6: 148,245,710 probably null Het
Ttll7 T A 3: 146,896,667 N73K probably damaging Het
Ttn T A 2: 76,772,458 K18473N probably damaging Het
Ubr2 A C 17: 46,967,247 Y721* probably null Het
Vmn1r14 T A 6: 57,234,301 I288N probably damaging Het
Vmn2r103 T C 17: 19,773,400 I13T probably benign Het
Vps13a A T 19: 16,701,130 Y1162* probably null Het
Vps51 C A 19: 6,071,467 R175L probably benign Het
Zfp523 C A 17: 28,204,499 S149R probably benign Het
Zik1 A G 7: 10,490,126 I348T possibly damaging Het
Znfx1 T A 2: 167,056,788 H72L probably benign 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
R0478:Fzd6 UTSW 15 39034034 intron probably null
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
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 PCR Primer
(F):5'- AGCACGGCTTGTAATAAGGCAGAC -3'
(R):5'- TCCCAGGTGATCCTGTTCACTAGC -3'

Sequencing Primer
(F):5'- TTTACAATGGCTGGCACCG -3'
(R):5'- CCTGTTCACTAGCTCATAGACATAG -3'
Posted On2014-04-13