Incidental Mutation 'R7638:Fzd9'
ID 590056
Institutional Source Beutler Lab
Gene Symbol Fzd9
Ensembl Gene ENSMUSG00000049551
Gene Name frizzled class receptor 9
Synonyms mfz9, Fz9, frizzled 9
MMRRC Submission 045696-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R7638 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 135277792-135279901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135279484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 134 (W134R)
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 damaging
Transcript: ENSMUST00000062572
AA Change: W134R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: W134R

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 0.9034 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T G 2: 26,733,855 (GRCm39) T115P probably damaging Het
Aggf1 G A 13: 95,492,921 (GRCm39) R563* probably null Het
Amdhd1 A T 10: 93,370,360 (GRCm39) Y159* probably null Het
Camp T C 9: 109,677,461 (GRCm39) E124G Het
Casq2 A G 3: 101,994,016 (GRCm39) E21G possibly damaging Het
Cbln1 A T 8: 88,198,357 (GRCm39) F116Y probably damaging Het
Cklf A T 8: 104,989,996 (GRCm39) K143* probably null Het
Clca3a1 A G 3: 144,457,723 (GRCm39) I387T probably damaging Het
Cndp1 T A 18: 84,654,174 (GRCm39) D130V probably benign Het
Cyp4a12a T A 4: 115,184,670 (GRCm39) M317K possibly damaging Het
Dmxl2 A T 9: 54,365,078 (GRCm39) I138K unknown Het
Eapp A G 12: 54,720,508 (GRCm39) S236P probably benign Het
Efcab3 T A 11: 104,927,625 (GRCm39) M4798K probably benign Het
Efnb3 T C 11: 69,448,046 (GRCm39) H132R possibly damaging Het
Fam243 A G 16: 92,117,805 (GRCm39) V161A probably damaging Het
Fbn2 A T 18: 58,238,208 (GRCm39) N596K probably damaging Het
Gga2 A G 7: 121,603,157 (GRCm39) S180P probably damaging Het
Golga3 A G 5: 110,353,694 (GRCm39) T911A probably benign Het
Gstm1 C T 3: 107,921,866 (GRCm39) probably null Het
Heg1 A G 16: 33,547,867 (GRCm39) T909A probably damaging Het
Herc2 T C 7: 55,807,186 (GRCm39) S2455P probably benign Het
Herc2 C T 7: 55,870,273 (GRCm39) R4349W probably damaging Het
Hivep2 T G 10: 14,019,595 (GRCm39) M2122R possibly damaging Het
Itga10 T A 3: 96,564,707 (GRCm39) probably null Het
Kbtbd13 G T 9: 65,298,605 (GRCm39) C110* probably null Het
Krt78 T C 15: 101,859,318 (GRCm39) E293G probably damaging Het
Lgals3bp C T 11: 118,288,995 (GRCm39) V110M possibly damaging Het
Lrp2 A G 2: 69,307,352 (GRCm39) probably null Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lrrc71 C A 3: 87,649,113 (GRCm39) G352W probably damaging Het
Map3k9 A G 12: 81,771,506 (GRCm39) V694A probably benign Het
Mboat2 T C 12: 24,989,325 (GRCm39) S162P probably damaging Het
Megf11 C A 9: 64,586,535 (GRCm39) N422K probably damaging Het
Miga1 C T 3: 151,982,324 (GRCm39) S584N probably benign Het
Mindy2 A G 9: 70,524,141 (GRCm39) Y403H probably damaging Het
Mmd C T 11: 90,167,583 (GRCm39) A204V possibly damaging Het
Mta3 A T 17: 84,107,572 (GRCm39) Y262F probably benign Het
Ncoa7 G A 10: 30,598,794 (GRCm39) S43F probably benign Het
Nhsl3 T C 4: 129,115,734 (GRCm39) T1022A probably benign Het
Nphp4 T C 4: 152,638,991 (GRCm39) V874A probably benign Het
Nsd1 A G 13: 55,460,141 (GRCm39) T2226A probably benign Het
Nt5dc1 T C 10: 34,190,792 (GRCm39) H302R probably benign Het
Odc1 A G 12: 17,600,003 (GRCm39) Y389C probably damaging Het
Or52p2 A G 7: 102,237,125 (GRCm39) I275T probably damaging Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Or8g37 T G 9: 39,731,189 (GRCm39) F85V probably damaging Het
Pcare T C 17: 72,057,880 (GRCm39) D599G probably damaging Het
Pcdhb10 A C 18: 37,545,365 (GRCm39) Q147P probably benign Het
Pdcl2 A C 5: 76,465,675 (GRCm39) C182G probably damaging Het
Pigv T C 4: 133,392,762 (GRCm39) D136G possibly damaging Het
Polr1h A C 17: 37,268,722 (GRCm39) probably null Het
Pramel5 T C 4: 143,998,010 (GRCm39) E411G possibly damaging Het
Prkce T C 17: 86,476,028 (GRCm39) V3A probably benign Het
Pth1r T C 9: 110,551,461 (GRCm39) N546S probably benign Het
Qrich2 C T 11: 116,346,148 (GRCm39) V1559I probably benign Het
Rbm20 A C 19: 53,802,764 (GRCm39) D424A possibly damaging Het
Rbm26 C T 14: 105,388,284 (GRCm39) D393N probably damaging Het
Sf3b3 G A 8: 111,547,445 (GRCm39) R728C probably damaging Het
Spata31e1 G T 13: 49,940,451 (GRCm39) Q420K probably benign Het
Srcap A G 7: 127,137,920 (GRCm39) N1090S probably benign Het
Syt4 A T 18: 31,576,875 (GRCm39) S160T probably benign Het
Tcstv6 A T 13: 120,304,224 (GRCm39) probably null Het
Tfap2e C T 4: 126,615,727 (GRCm39) V236M probably damaging Het
Thsd4 G A 9: 60,301,755 (GRCm39) T180M probably damaging Het
Tlr4 T A 4: 66,758,443 (GRCm39) M412K probably damaging Het
Tmem67 T A 4: 12,079,883 (GRCm39) H136L probably benign Het
Tnpo2 T A 8: 85,771,044 (GRCm39) I110N probably benign Het
Trav13d-3 A G 14: 53,270,870 (GRCm39) M111V probably benign Het
Tubb3 A T 8: 124,147,900 (GRCm39) S278C probably benign Het
Ugcg T A 4: 59,220,299 (GRCm39) F364Y probably benign Het
Usp17lc T C 7: 103,067,706 (GRCm39) S334P probably damaging Het
Vps13c A G 9: 67,852,791 (GRCm39) D2357G probably damaging Het
Zfp157 T C 5: 138,454,172 (GRCm39) Y125H probably benign Het
Zfp747 A T 7: 126,973,819 (GRCm39) M117K probably benign Het
Zscan4c A T 7: 10,743,658 (GRCm39) N419I possibly 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
R4079: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
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'- ACTGGAACTTCTCGGGGTTG -3'
(R):5'- ATTGGCTACAACCTGACCCG -3'

Sequencing Primer
(F):5'- AACTTCTCGGGGTTGTCGCAG -3'
(R):5'- GCATGCCCAACCTACTGG -3'
Posted On 2019-10-24