Incidental Mutation 'R4079:Fzd9'
ID 316746
Institutional Source Beutler Lab
Gene Symbol Fzd9
Ensembl Gene ENSMUSG00000049551
Gene Name frizzled class receptor 9
Synonyms mfz9, Fz9, frizzled 9
MMRRC Submission 040976-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R4079 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135277792-135279901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135278490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 465 (V465A)
Ref Sequence ENSEMBL: ENSMUSP00000053551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002825] [ENSMUST00000062572]
AlphaFold Q9R216
Predicted Effect probably benign
Transcript: ENSMUST00000002825
SMART Domains Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 21 120 2.6e-28 PFAM
low complexity region 312 335 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
low complexity region 482 493 N/A INTRINSIC
coiled coil region 537 587 N/A INTRINSIC
DDT 605 669 5.59e-17 SMART
Pfam:WHIM1 725 773 2.2e-9 PFAM
low complexity region 822 835 N/A INTRINSIC
coiled coil region 854 890 N/A INTRINSIC
Pfam:WHIM2 900 935 1.3e-10 PFAM
Pfam:WHIM3 991 1029 1.5e-16 PFAM
low complexity region 1131 1148 N/A INTRINSIC
PHD 1186 1232 1.89e-14 SMART
RING 1187 1231 7.85e-2 SMART
low complexity region 1245 1277 N/A INTRINSIC
BROMO 1333 1441 3.63e-37 SMART
low complexity region 1459 1472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062572
AA Change: V465A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: V465A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FRI 39 158 1.97e-73 SMART
low complexity region 177 195 N/A INTRINSIC
Frizzled 222 548 4.64e-199 SMART
Meta Mutation Damage Score 0.0970 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele exhibit immune system abnormalities while another null allele causes neurological abnormalities. A third null mutation results in growth retardation and abnormalities in bone mineralization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 C G 4: 126,247,473 (GRCm39) probably null Het
Ankfy1 C A 11: 72,580,835 (GRCm39) probably benign Het
Ap4b1 T A 3: 103,720,694 (GRCm39) N121K probably damaging Het
Arhgef12 T C 9: 42,886,588 (GRCm39) M1131V probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Armc9 A T 1: 86,140,851 (GRCm39) probably benign Het
Bnc1 T C 7: 81,623,508 (GRCm39) E573G probably damaging Het
Btaf1 A G 19: 36,963,879 (GRCm39) T817A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cadm3 A G 1: 173,169,236 (GRCm39) V293A probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cbfa2t3 A G 8: 123,374,434 (GRCm39) probably null Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdc45 A T 16: 18,630,110 (GRCm39) V19D probably damaging Het
Cfap57 C A 4: 118,456,194 (GRCm39) S500I probably benign Het
Cnga3 A T 1: 37,280,946 (GRCm39) Q47L possibly damaging Het
Corin T C 5: 72,661,226 (GRCm39) D89G probably benign Het
Cox16 A T 12: 81,521,109 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,006,791 (GRCm39) N50S probably benign Het
Diaph1 T A 18: 37,986,636 (GRCm39) E1116D possibly damaging Het
Dlg5 T C 14: 24,198,328 (GRCm39) D1535G possibly damaging Het
Enpp1 A G 10: 24,544,905 (GRCm39) probably null Het
F13b T A 1: 139,429,508 (GRCm39) F9I unknown Het
Fcer1a C T 1: 173,052,920 (GRCm39) C36Y probably damaging Het
Fcho2 A G 13: 98,892,120 (GRCm39) V318A probably damaging Het
Hbs1l T C 10: 21,228,501 (GRCm39) V493A probably damaging Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Kpna7 A G 5: 144,942,737 (GRCm39) I83T possibly damaging Het
Llgl1 C A 11: 60,601,110 (GRCm39) probably null Het
Lrig3 A C 10: 125,845,656 (GRCm39) E695A probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Mfn1 T G 3: 32,596,998 (GRCm39) L152W probably damaging Het
Mog A G 17: 37,323,302 (GRCm39) F212S probably damaging Het
Mpeg1 A G 19: 12,439,634 (GRCm39) N364S probably damaging Het
Mtmr3 C T 11: 4,441,057 (GRCm39) R531Q probably damaging Het
Mx2 A G 16: 97,357,236 (GRCm39) N443S probably damaging Het
Nfatc3 T C 8: 106,806,123 (GRCm39) Y323H probably damaging Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Or52x1 A T 7: 104,853,228 (GRCm39) H107Q probably damaging Het
Or8u10 A G 2: 85,915,656 (GRCm39) V155A possibly damaging Het
Patl1 C T 19: 11,908,994 (GRCm39) A467V probably damaging Het
Pdss2 A T 10: 43,278,518 (GRCm39) M342L probably benign Het
Phax A G 18: 56,709,051 (GRCm39) N183S possibly damaging Het
Pnck A T X: 72,701,761 (GRCm39) V93E probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Ptprk G A 10: 28,139,508 (GRCm39) V78I probably benign Het
Ptpru A T 4: 131,526,021 (GRCm39) probably null Het
Ptprv A G 1: 135,038,168 (GRCm39) noncoding transcript Het
Ranbp3l A G 15: 9,060,838 (GRCm39) N233S probably damaging Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Rasgrp1 A G 2: 117,115,510 (GRCm39) S693P probably benign Het
Scyl2 A T 10: 89,476,458 (GRCm39) M889K probably benign Het
Serpina3a C T 12: 104,085,934 (GRCm39) Q320* probably null Het
Slc12a1 A T 2: 125,042,543 (GRCm39) N733I possibly damaging Het
Snap47 C T 11: 59,319,377 (GRCm39) V254I probably benign Het
Speer4e2 A T 5: 15,027,663 (GRCm39) L71Q probably damaging Het
St6galnac2 A T 11: 116,572,724 (GRCm39) L244Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tjp2 A T 19: 24,086,182 (GRCm39) V780E possibly damaging Het
Tns1 G A 1: 74,034,467 (GRCm39) R192C probably damaging Het
Trav6-3 T C 14: 53,667,537 (GRCm39) L3P possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp32 T A 11: 84,930,055 (GRCm39) Y574F probably damaging Het
Other mutations in Fzd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Fzd9 APN 5 135,278,323 (GRCm39) missense probably damaging 1.00
IGL01446:Fzd9 APN 5 135,279,420 (GRCm39) missense probably damaging 1.00
IGL02510:Fzd9 APN 5 135,278,469 (GRCm39) missense probably damaging 1.00
alexei UTSW 5 135,279,484 (GRCm39) missense probably damaging 1.00
Nicholas UTSW 5 135,279,178 (GRCm39) missense possibly damaging 0.54
R0308:Fzd9 UTSW 5 135,278,260 (GRCm39) missense probably damaging 0.97
R0417:Fzd9 UTSW 5 135,278,473 (GRCm39) missense probably damaging 0.99
R1563:Fzd9 UTSW 5 135,279,408 (GRCm39) missense probably damaging 0.96
R1638:Fzd9 UTSW 5 135,278,602 (GRCm39) missense probably damaging 1.00
R1840:Fzd9 UTSW 5 135,278,425 (GRCm39) missense probably benign
R2046:Fzd9 UTSW 5 135,278,538 (GRCm39) missense probably damaging 1.00
R2268:Fzd9 UTSW 5 135,279,148 (GRCm39) missense probably damaging 1.00
R2898:Fzd9 UTSW 5 135,278,700 (GRCm39) missense probably damaging 1.00
R4078:Fzd9 UTSW 5 135,278,490 (GRCm39) missense probably benign 0.01
R4576:Fzd9 UTSW 5 135,279,166 (GRCm39) missense probably damaging 1.00
R4662:Fzd9 UTSW 5 135,278,475 (GRCm39) missense probably damaging 1.00
R4956:Fzd9 UTSW 5 135,278,796 (GRCm39) missense probably damaging 1.00
R5096:Fzd9 UTSW 5 135,278,713 (GRCm39) missense probably damaging 0.96
R5227:Fzd9 UTSW 5 135,278,460 (GRCm39) missense probably benign 0.06
R5452:Fzd9 UTSW 5 135,279,714 (GRCm39) missense probably damaging 1.00
R5475:Fzd9 UTSW 5 135,279,123 (GRCm39) splice site probably null
R5888:Fzd9 UTSW 5 135,278,317 (GRCm39) splice site probably null
R5914:Fzd9 UTSW 5 135,278,199 (GRCm39) missense probably benign
R7148:Fzd9 UTSW 5 135,278,544 (GRCm39) missense probably benign 0.40
R7544:Fzd9 UTSW 5 135,278,716 (GRCm39) missense probably damaging 1.00
R7638:Fzd9 UTSW 5 135,279,484 (GRCm39) missense probably damaging 1.00
R8672:Fzd9 UTSW 5 135,278,524 (GRCm39) missense probably benign 0.02
R8893:Fzd9 UTSW 5 135,279,178 (GRCm39) missense possibly damaging 0.54
R8927:Fzd9 UTSW 5 135,278,589 (GRCm39) missense probably damaging 1.00
R8928:Fzd9 UTSW 5 135,278,589 (GRCm39) missense probably damaging 1.00
R9234:Fzd9 UTSW 5 135,279,540 (GRCm39) missense probably damaging 0.99
R9240:Fzd9 UTSW 5 135,278,812 (GRCm39) missense probably damaging 1.00
X0063:Fzd9 UTSW 5 135,278,575 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TCTTGGAACTCCATACCCAGAC -3'
(R):5'- TATGTAGCCAGCATGGACCC -3'

Sequencing Primer
(F):5'- AGACTCCACTGGTGATGCC -3'
(R):5'- CACTGGCTTTGTGTTGGTACCC -3'
Posted On 2015-05-15