Incidental Mutation 'IGL00915:Fzd9'
ID 27406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd9
Ensembl Gene ENSMUSG00000049551
Gene Name frizzled class receptor 9
Synonyms mfz9, Fz9, frizzled 9
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # IGL00915
Quality Score
Status
Chromosome 5
Chromosomal Location 135277792-135279901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135278323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 521 (V521M)
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: V521M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: V521M

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
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,593,220 (GRCm39) Y206N probably damaging Het
Aebp2 A G 6: 140,587,980 (GRCm39) N350S probably benign Het
Cerkl A G 2: 79,171,843 (GRCm39) S367P probably benign Het
Ddx60 T G 8: 62,440,465 (GRCm39) V1039G possibly damaging Het
Fstl4 A T 11: 53,067,825 (GRCm39) M563L probably benign Het
Gorab C T 1: 163,224,426 (GRCm39) R125Q probably benign Het
Macc1 G A 12: 119,410,749 (GRCm39) D506N probably benign Het
Mettl17 C A 14: 52,124,746 (GRCm39) F119L probably benign Het
Nbas C A 12: 13,424,753 (GRCm39) C997* probably null Het
Neil1 A G 9: 57,051,261 (GRCm39) probably null Het
Or2r11 A G 6: 42,437,884 (GRCm39) I23T probably benign Het
Prune2 A G 19: 16,993,617 (GRCm39) E185G probably damaging Het
Ralgapa2 A G 2: 146,184,442 (GRCm39) S1522P probably damaging Het
Scd1 A G 19: 44,388,796 (GRCm39) L218P possibly damaging Het
Setdb1 A T 3: 95,254,099 (GRCm39) F234L probably damaging Het
Sos1 A G 17: 80,741,367 (GRCm39) S473P probably benign Het
Spata31d1a T C 13: 59,849,999 (GRCm39) S710G probably benign Het
Srp72 C A 5: 77,126,460 (GRCm39) C87* probably null Het
Tas2r126 T A 6: 42,412,283 (GRCm39) I272K possibly damaging Het
Trim38 A T 13: 23,975,015 (GRCm39) Y318F possibly damaging Het
Trnt1 A G 6: 106,756,387 (GRCm39) K433E probably benign Het
Umodl1 A G 17: 31,227,724 (GRCm39) probably benign Het
Urb1 A G 16: 90,575,986 (GRCm39) F857L possibly damaging Het
Vps45 A G 3: 95,953,662 (GRCm39) probably null Het
Zfhx4 A T 3: 5,310,583 (GRCm39) I989F probably damaging Het
Other mutations in Fzd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17