Incidental Mutation 'IGL02015:Fzd5'
ID183706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd5
Ensembl Gene ENSMUSG00000045005
Gene Namefrizzled class receptor 5
SynonymsFz5, 5330434N09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02015
Quality Score
Status
Chromosome1
Chromosomal Location64730558-64737751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64736342 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 87 (C87S)
Ref Sequence ENSEMBL: ENSMUSP00000111828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063982] [ENSMUST00000116133]
Predicted Effect probably damaging
Transcript: ENSMUST00000063982
AA Change: C87S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067783
Gene: ENSMUSG00000045005
AA Change: C87S

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 probably damaging
Transcript: ENSMUST00000116133
AA Change: C87S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111828
Gene: ENSMUSG00000045005
AA Change: C87S

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Fzd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Fzd5 APN 1 64735946 missense possibly damaging 0.81
IGL02673:Fzd5 APN 1 64735106 missense possibly damaging 0.48
R0060:Fzd5 UTSW 1 64735676 missense probably benign 0.01
R1860:Fzd5 UTSW 1 64734994 missense probably damaging 1.00
R1884:Fzd5 UTSW 1 64735654 missense probably damaging 1.00
R2373:Fzd5 UTSW 1 64734907 missense probably damaging 0.96
R3114:Fzd5 UTSW 1 64735580 missense probably benign 0.45
R3725:Fzd5 UTSW 1 64736339 missense probably damaging 1.00
R4972:Fzd5 UTSW 1 64736012 missense probably benign 0.06
R5154:Fzd5 UTSW 1 64735972 missense probably benign 0.05
R5441:Fzd5 UTSW 1 64735417 missense probably benign 0.43
R6122:Fzd5 UTSW 1 64735656 nonsense probably null
R6748:Fzd5 UTSW 1 64735564 missense possibly damaging 0.89
R7322:Fzd5 UTSW 1 64735328 missense probably damaging 1.00
R7526:Fzd5 UTSW 1 64736092 missense probably benign 0.01
R7543:Fzd5 UTSW 1 64735840 missense probably damaging 0.99
R8163:Fzd5 UTSW 1 64735193 missense probably damaging 1.00
Posted On2014-05-07