Incidental Mutation 'R9320:Fzd4'
ID 706093
Institutional Source Beutler Lab
Gene Symbol Fzd4
Ensembl Gene ENSMUSG00000049791
Gene Name frizzled class receptor 4
Synonyms Fz4
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R9320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 89053574-89062341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89056912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 320 (W320R)
Ref Sequence ENSEMBL: ENSMUSP00000049852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058755]
AlphaFold Q61088
Predicted Effect probably damaging
Transcript: ENSMUST00000058755
AA Change: W320R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049852
Gene: ENSMUSG00000049791
AA Change: W320R

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
FRI 44 163 2.08e-72 SMART
Frizzled 209 514 5.75e-204 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,320 (GRCm39) Y1451H probably damaging Het
Abca7 T A 10: 79,833,471 (GRCm39) M8K possibly damaging Het
Ablim3 C A 18: 61,972,805 (GRCm39) R238L probably damaging Het
Adar T A 3: 89,658,368 (GRCm39) Y1141* probably null Het
Arid2 T C 15: 96,269,067 (GRCm39) I1060T probably damaging Het
Armc2 A T 10: 41,839,774 (GRCm39) V397D possibly damaging Het
Astn2 A G 4: 66,322,386 (GRCm39) V71A unknown Het
Bcat2 A G 7: 45,234,542 (GRCm39) D141G probably damaging Het
Bicdl1 C A 5: 115,862,769 (GRCm39) R162L probably damaging Het
Btbd17 A G 11: 114,684,910 (GRCm39) I43T possibly damaging Het
C2cd5 A T 6: 142,977,019 (GRCm39) C698* probably null Het
Calr T A 8: 85,572,629 (GRCm39) K87* probably null Het
Cap2 C T 13: 46,768,818 (GRCm39) T208I probably benign Het
Col14a1 A T 15: 55,364,780 (GRCm39) M1630L probably benign Het
Copg1 T G 6: 87,887,072 (GRCm39) S816A possibly damaging Het
Csf2ra C A 19: 61,215,280 (GRCm39) A112S possibly damaging Het
Cwc27 T A 13: 104,933,799 (GRCm39) H241L probably benign Het
Dgki T A 6: 36,892,422 (GRCm39) E852V probably damaging Het
Dpp6 T C 5: 27,868,521 (GRCm39) probably null Het
Dynlrb1 T C 2: 155,089,860 (GRCm39) probably null Het
Ehhadh C T 16: 21,592,281 (GRCm39) V141I probably benign Het
Esyt3 A G 9: 99,194,044 (GRCm39) L865P probably damaging Het
Fam83h T A 15: 75,873,924 (GRCm39) T1138S possibly damaging Het
Gimap7 A T 6: 48,701,260 (GRCm39) K282M probably benign Het
Gnai2 G A 9: 107,492,913 (GRCm39) T330I Het
Gpr107 T C 2: 31,078,728 (GRCm39) S388P possibly damaging Het
Il1a T G 2: 129,142,654 (GRCm39) M264L probably benign Het
Ints10 A T 8: 69,279,951 (GRCm39) I693F probably damaging Het
Jak3 A T 8: 72,134,265 (GRCm39) N456Y probably benign Het
Krcc1 A G 6: 71,261,457 (GRCm39) E163G probably benign Het
Lctl A G 9: 64,040,455 (GRCm39) Y466C probably damaging Het
Lrp12 A T 15: 39,741,357 (GRCm39) S472T probably damaging Het
Lrp1b A G 2: 41,335,111 (GRCm39) probably null Het
Lrriq1 T A 10: 103,057,144 (GRCm39) M219L probably benign Het
Mbl2 T A 19: 30,216,741 (GRCm39) D184E probably damaging Het
Mrgpra9 G A 7: 46,885,392 (GRCm39) R92C probably benign Het
Mroh4 G A 15: 74,483,405 (GRCm39) T644I probably damaging Het
Muc5ac C T 7: 141,369,255 (GRCm39) A3114V probably benign Het
Myh11 T A 16: 14,029,152 (GRCm39) M1197L Het
Naga C T 15: 82,221,084 (GRCm39) G71S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nsd3 A G 8: 26,199,088 (GRCm39) probably null Het
Nsun6 T C 2: 15,047,048 (GRCm39) T101A probably benign Het
Or55b10 T A 7: 102,144,084 (GRCm39) probably benign Het
Pabpc4l T A 3: 46,401,326 (GRCm39) D106V probably damaging Het
Pdlim5 G A 3: 141,953,109 (GRCm39) P529L probably damaging Het
Ralgapa1 A G 12: 55,755,843 (GRCm39) L1111P possibly damaging Het
Rangap1 T C 15: 81,606,221 (GRCm39) D40G probably benign Het
Ripor2 T C 13: 24,915,663 (GRCm39) F1078L probably damaging Het
Ryr3 T C 2: 112,610,336 (GRCm39) D2312G probably damaging Het
Siglecg T A 7: 43,058,853 (GRCm39) I202N probably benign Het
Slco4c1 G T 1: 96,795,644 (GRCm39) S138* probably null Het
Snx27 T C 3: 94,431,593 (GRCm39) Y267C probably damaging Het
Sphk2 C T 7: 45,361,179 (GRCm39) R275H probably damaging Het
Stk36 T A 1: 74,655,793 (GRCm39) V432E possibly damaging Het
Tecrl C T 5: 83,428,422 (GRCm39) S283N possibly damaging Het
Tenm2 T A 11: 35,914,474 (GRCm39) E2354D probably damaging Het
Tmem59l A G 8: 70,937,822 (GRCm39) V186A possibly damaging Het
Try4 T C 6: 41,282,008 (GRCm39) probably null Het
Ubr1 C A 2: 120,727,000 (GRCm39) G1248V probably benign Het
Umod C T 7: 119,065,355 (GRCm39) G558E probably damaging Het
Unc13b T C 4: 43,171,044 (GRCm39) F624S unknown Het
Uvssa T G 5: 33,547,365 (GRCm39) D310E probably benign Het
Vmn1r222 A T 13: 23,416,418 (GRCm39) M265K probably benign Het
Vmn1r3 A G 4: 3,185,284 (GRCm39) F8L probably benign Het
Zfp268 C G 4: 145,349,156 (GRCm39) Q198E possibly damaging Het
Zfp386 T A 12: 116,023,517 (GRCm39) C412S probably damaging 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
R5440:Fzd4 UTSW 7 89,057,326 (GRCm39) nonsense probably null
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
Z1177:Fzd4 UTSW 7 89,056,458 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGAGCGCCCCATCATATTTC -3'
(R):5'- GGGCATCTAGATTTTGGTTCCC -3'

Sequencing Primer
(F):5'- AGCGCCCCATCATATTTCTCAGTATG -3'
(R):5'- TTTTGGTTCCCAACATAGCACAAGC -3'
Posted On 2022-03-25