Incidental Mutation 'IGL02505:Fzd3'
ID296277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd3
Ensembl Gene ENSMUSG00000007989
Gene Namefrizzled class receptor 3
SynonymsD930050A07Rik, Fz3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02505
Quality Score
Status
Chromosome14
Chromosomal Location65192449-65262463 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65253106 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 9 (D9E)
Ref Sequence ENSEMBL: ENSMUSP00000115325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131309]
Predicted Effect probably benign
Transcript: ENSMUST00000131309
AA Change: D9E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115325
Gene: ENSMUSG00000007989
AA Change: D9E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FRI 27 138 3.39e-63 SMART
Frizzled 192 517 5.6e-184 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
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. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruption of this gene die within 30 minutes of birth. Breathing is irregular. Brain development is abnormal with occasion falure of the cephalic neural tube to close. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cops7b C A 1: 86,592,321 Q65K probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dirc2 G T 16: 35,735,558 D177E probably benign Het
Dkc1 T C X: 75,108,733 probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fus G A 7: 127,981,507 R252Q possibly damaging Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Krt77 A G 15: 101,860,946 L460P probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rbm34 T C 8: 126,949,321 I395V probably benign Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Fzd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Fzd3 APN 14 65239898 missense probably damaging 1.00
IGL02568:Fzd3 APN 14 65235940 splice site probably benign
R1161:Fzd3 UTSW 14 65212088 missense probably damaging 1.00
R1563:Fzd3 UTSW 14 65235724 missense probably damaging 1.00
R1616:Fzd3 UTSW 14 65235507 missense probably benign
R1636:Fzd3 UTSW 14 65253106 missense probably benign
R1826:Fzd3 UTSW 14 65253106 missense probably benign
R2071:Fzd3 UTSW 14 65235563 missense probably damaging 1.00
R2174:Fzd3 UTSW 14 65212231 splice site probably benign
R3857:Fzd3 UTSW 14 65239839 missense possibly damaging 0.84
R3859:Fzd3 UTSW 14 65239839 missense possibly damaging 0.84
R3917:Fzd3 UTSW 14 65235930 missense probably damaging 0.97
R4110:Fzd3 UTSW 14 65235167 missense probably benign 0.00
R4396:Fzd3 UTSW 14 65235605 missense probably damaging 0.99
R4740:Fzd3 UTSW 14 65235744 missense possibly damaging 0.89
R4796:Fzd3 UTSW 14 65235158 missense possibly damaging 0.89
R4838:Fzd3 UTSW 14 65239820 missense probably benign 0.00
R5916:Fzd3 UTSW 14 65202729 missense probably benign 0.29
R6240:Fzd3 UTSW 14 65209855 missense probably damaging 1.00
R6732:Fzd3 UTSW 14 65235803 missense probably benign 0.44
R6892:Fzd3 UTSW 14 65209881 missense possibly damaging 0.90
R7819:Fzd3 UTSW 14 65235326 missense probably damaging 1.00
Posted On2015-04-16