Incidental Mutation 'IGL01987:Fzd3'
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ID181962
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 #IGL01987
Quality Score
Status
Chromosome14
Chromosomal Location65192449-65262463 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65239898 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 69 (V69E)
Ref Sequence ENSEMBL: ENSMUSP00000115325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131309]
Predicted Effect probably damaging
Transcript: ENSMUST00000131309
AA Change: V69E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115325
Gene: ENSMUSG00000007989
AA Change: V69E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FRI 27 138 3.39e-63 SMART
Frizzled 192 517 5.6e-184 SMART
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Fzd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Fzd3 APN 14 65253106 missense probably benign
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
R8113:Fzd3 UTSW 14 65202813 missense probably benign 0.37
Posted On2014-05-07