Incidental Mutation 'R5440:Fzd4'
ID 428581
Institutional Source Beutler Lab
Gene Symbol Fzd4
Ensembl Gene ENSMUSG00000049791
Gene Name frizzled class receptor 4
Synonyms Fz4
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 89053574-89062341 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 89057326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 458 (E458*)
Ref Sequence ENSEMBL: ENSMUSP00000049852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058755]
AlphaFold Q61088
Predicted Effect probably null
Transcript: ENSMUST00000058755
AA Change: E458*
SMART Domains Protein: ENSMUSP00000049852
Gene: ENSMUSG00000049791
AA Change: E458*

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
FRI 44 163 2.08e-72 SMART
Frizzled 209 514 5.75e-204 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124477
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in hearing, locomotion, retinal morphology, and degeneration of the cerebellum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G probably benign Het
Other mutations in Fzd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Fzd4 APN 7 89,056,943 (GRCm39) missense probably damaging 0.99
IGL01458:Fzd4 APN 7 89,053,943 (GRCm39) missense unknown
IGL02858:Fzd4 APN 7 89,057,162 (GRCm39) missense probably damaging 1.00
IGL03393:Fzd4 APN 7 89,056,505 (GRCm39) missense probably benign 0.00
R1869:Fzd4 UTSW 7 89,056,454 (GRCm39) missense probably benign 0.01
R4639:Fzd4 UTSW 7 89,056,525 (GRCm39) missense probably benign 0.24
R4762:Fzd4 UTSW 7 89,056,924 (GRCm39) missense probably damaging 0.99
R4880:Fzd4 UTSW 7 89,057,109 (GRCm39) missense probably benign 0.00
R5135:Fzd4 UTSW 7 89,056,709 (GRCm39) missense probably damaging 1.00
R5279:Fzd4 UTSW 7 89,056,881 (GRCm39) missense probably benign 0.08
R5487:Fzd4 UTSW 7 89,056,615 (GRCm39) missense probably benign 0.00
R6021:Fzd4 UTSW 7 89,056,942 (GRCm39) missense probably benign 0.31
R6193:Fzd4 UTSW 7 89,057,197 (GRCm39) nonsense probably null
R6221:Fzd4 UTSW 7 89,054,100 (GRCm39) missense probably damaging 0.99
R6651:Fzd4 UTSW 7 89,054,010 (GRCm39) missense possibly damaging 0.72
R7549:Fzd4 UTSW 7 89,056,346 (GRCm39) missense possibly damaging 0.77
R7560:Fzd4 UTSW 7 89,056,761 (GRCm39) nonsense probably null
R7575:Fzd4 UTSW 7 89,056,918 (GRCm39) missense possibly damaging 0.88
R7731:Fzd4 UTSW 7 89,057,258 (GRCm39) missense possibly damaging 0.87
R7753:Fzd4 UTSW 7 89,056,992 (GRCm39) nonsense probably null
R8945:Fzd4 UTSW 7 89,056,792 (GRCm39) missense possibly damaging 0.95
R9320:Fzd4 UTSW 7 89,056,912 (GRCm39) missense probably damaging 1.00
Z1177:Fzd4 UTSW 7 89,056,458 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGATTGGAACGCTGTTCATTGC -3'
(R):5'- GCCGGCTAGTCTTATACCAC -3'

Sequencing Primer
(F):5'- GCTGTTCATTGCGGCGG -3'
(R):5'- GGCTAGTCTTATACCACAGTCTCG -3'
Posted On 2016-09-01