Incidental Mutation 'IGL02673:Fzd5'
ID 302992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd5
Ensembl Gene ENSMUSG00000045005
Gene Name frizzled class receptor 5
Synonyms Fz5, 5330434N09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02673
Quality Score
Status
Chromosome 1
Chromosomal Location 64769717-64776907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64774265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 499 (E499K)
Ref Sequence ENSEMBL: ENSMUSP00000111828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063982] [ENSMUST00000116133]
AlphaFold Q9EQD0
Predicted Effect possibly damaging
Transcript: ENSMUST00000063982
AA Change: E499K

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067783
Gene: ENSMUSG00000045005
AA Change: E499K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
FRI 32 152 1.28e-72 SMART
low complexity region 170 188 N/A INTRINSIC
Frizzled 225 540 2.48e-217 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116133
AA Change: E499K

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111828
Gene: ENSMUSG00000045005
AA Change: E499K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
FRI 32 152 1.28e-72 SMART
low complexity region 170 188 N/A INTRINSIC
Frizzled 225 540 2.48e-217 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194323
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 FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos. Extra embryonic vascular development is abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,395,056 (GRCm39) T33S probably benign Het
Abca4 T C 3: 121,897,150 (GRCm39) Y610H probably damaging Het
Agl A T 3: 116,575,248 (GRCm39) C630S probably benign Het
Alkbh6 G T 7: 30,013,536 (GRCm39) G202C probably damaging Het
Ascc3 A T 10: 50,536,769 (GRCm39) M701L probably benign Het
Bpgm T A 6: 34,464,769 (GRCm39) L162Q probably damaging Het
Ccdc150 A G 1: 54,368,149 (GRCm39) T592A probably benign Het
Chpf2 G A 5: 24,796,302 (GRCm39) R416Q probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Col18a1 C T 10: 76,894,997 (GRCm39) G983D probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Cyp2a22 T G 7: 26,637,525 (GRCm39) K157Q probably benign Het
Dhx57 A G 17: 80,574,974 (GRCm39) V668A probably damaging Het
Eps8l1 T A 7: 4,481,731 (GRCm39) V743E probably damaging Het
Fnbp4 C T 2: 90,593,816 (GRCm39) T557M probably benign Het
Gm57858 A C 3: 36,100,848 (GRCm39) probably benign Het
Il1r2 A G 1: 40,154,323 (GRCm39) Y230C probably damaging Het
Insrr A C 3: 87,720,368 (GRCm39) E1002A possibly damaging Het
Kdm4a C T 4: 118,025,769 (GRCm39) D146N probably benign Het
Kidins220 G A 12: 25,044,991 (GRCm39) V262M probably damaging Het
Kif26b C T 1: 178,649,170 (GRCm39) P430L probably damaging Het
Mamdc4 T C 2: 25,460,066 (GRCm39) S62G probably benign Het
Mcu C A 10: 59,303,466 (GRCm39) V124F probably damaging Het
Mlf1 A G 3: 67,301,280 (GRCm39) M98V probably benign Het
Mogs T C 6: 83,095,199 (GRCm39) V672A probably damaging Het
Ntrk3 T C 7: 77,900,512 (GRCm39) D609G probably damaging Het
Or1n1 C T 2: 36,750,188 (GRCm39) M57I probably benign Het
Pdlim5 T A 3: 142,058,548 (GRCm39) E65D probably damaging Het
Peg3 T C 7: 6,713,413 (GRCm39) N603S probably damaging Het
Pkd1 A G 17: 24,790,257 (GRCm39) Y980C probably benign Het
Rack1 A G 11: 48,691,357 (GRCm39) T23A probably benign Het
Rad50 A T 11: 53,579,067 (GRCm39) I497K probably benign Het
Sin3a C A 9: 57,014,725 (GRCm39) Q649K probably damaging Het
Sirt6 A G 10: 81,461,671 (GRCm39) F46L probably damaging Het
Slc40a1 A T 1: 45,957,576 (GRCm39) I136N possibly damaging Het
Sspo G A 6: 48,452,794 (GRCm39) R2834H probably damaging Het
Sspo G T 6: 48,475,709 (GRCm39) probably null Het
Sycp2 T A 2: 178,036,004 (GRCm39) T228S possibly damaging Het
Uhrf2 T A 19: 30,070,207 (GRCm39) N785K probably damaging Het
Vmn2r58 T A 7: 41,514,082 (GRCm39) Y187F possibly damaging Het
Vmn2r80 A G 10: 79,005,318 (GRCm39) I318M probably benign Het
Vps13c T C 9: 67,785,380 (GRCm39) L249P probably damaging Het
Zw10 T A 9: 48,988,893 (GRCm39) probably null Het
Other mutations in Fzd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Fzd5 APN 1 64,775,105 (GRCm39) missense possibly damaging 0.81
IGL02015:Fzd5 APN 1 64,775,501 (GRCm39) missense probably damaging 1.00
R0060:Fzd5 UTSW 1 64,774,835 (GRCm39) missense probably benign 0.01
R1860:Fzd5 UTSW 1 64,774,153 (GRCm39) missense probably damaging 1.00
R1884:Fzd5 UTSW 1 64,774,813 (GRCm39) missense probably damaging 1.00
R2373:Fzd5 UTSW 1 64,774,066 (GRCm39) missense probably damaging 0.96
R3114:Fzd5 UTSW 1 64,774,739 (GRCm39) missense probably benign 0.45
R3725:Fzd5 UTSW 1 64,775,498 (GRCm39) missense probably damaging 1.00
R4972:Fzd5 UTSW 1 64,775,171 (GRCm39) missense probably benign 0.06
R5154:Fzd5 UTSW 1 64,775,131 (GRCm39) missense probably benign 0.05
R5441:Fzd5 UTSW 1 64,774,576 (GRCm39) missense probably benign 0.43
R6122:Fzd5 UTSW 1 64,774,815 (GRCm39) nonsense probably null
R6748:Fzd5 UTSW 1 64,774,723 (GRCm39) missense possibly damaging 0.89
R7322:Fzd5 UTSW 1 64,774,487 (GRCm39) missense probably damaging 1.00
R7526:Fzd5 UTSW 1 64,775,251 (GRCm39) missense probably benign 0.01
R7543:Fzd5 UTSW 1 64,774,999 (GRCm39) missense probably damaging 0.99
R8163:Fzd5 UTSW 1 64,774,352 (GRCm39) missense probably damaging 1.00
R9273:Fzd5 UTSW 1 64,775,110 (GRCm39) missense possibly damaging 0.63
Posted On 2015-04-16