Incidental Mutation 'R1161:Fzd3'
List |< first << previous [record 11 of 27] next >> last >|
ID100425
Institutional Source Beutler Lab
Gene Symbol Fzd3
Ensembl Gene ENSMUSG00000007989
Gene Namefrizzled class receptor 3
SynonymsD930050A07Rik, Fz3
MMRRC Submission 039234-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1161 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location65192449-65262463 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 65212088 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 514 (R514C)
Ref Sequence ENSEMBL: ENSMUSP00000115325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131309]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127272
Predicted Effect probably damaging
Transcript: ENSMUST00000131309
AA Change: R514C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115325
Gene: ENSMUSG00000007989
AA Change: R514C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FRI 27 138 3.39e-63 SMART
Frizzled 192 517 5.6e-184 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224558
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.7%
  • 20x: 89.6%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl10 T G 3: 145,930,425 V26G probably damaging Het
C4b A G 17: 34,729,593 V1581A probably damaging Het
Camk1g T C 1: 193,348,354 D349G probably benign Het
Ccdc106 G A 7: 5,059,540 D11N possibly damaging Het
Ckap5 T G 2: 91,599,375 L1464R probably null Het
Def6 G A 17: 28,217,619 V86I probably benign Het
Dnm3 T A 1: 162,353,574 T179S probably benign Het
Dync1h1 G A 12: 110,636,509 E2195K probably benign Het
Eme1 G A 11: 94,645,542 R534C probably damaging Het
Fam160a1 A G 3: 85,672,468 I810T probably damaging Het
H2-T24 G T 17: 36,014,996 Y234* probably null Het
Ifit1bl1 A G 19: 34,593,696 S454P possibly damaging Het
Ipcef1 T A 10: 6,980,288 probably null Het
Mmel1 C T 4: 154,895,214 R764C probably damaging Het
Olfr857 A G 9: 19,713,180 M118V probably damaging Het
Pde4c A G 8: 70,749,923 D592G possibly damaging Het
Prx T C 7: 27,519,677 F1340S probably damaging Het
Rgs7 T C 1: 175,079,455 T90A probably damaging Het
Scn11a C T 9: 119,755,057 W1497* probably null Het
Snrnp40 C G 4: 130,378,043 probably null Het
Srrm3 CAAGAAGAAGAAGAA CAAGAAGAAGAA 5: 135,854,392 probably benign Het
Svep1 T A 4: 58,069,416 Y2790F possibly damaging Het
Tmeff2 T C 1: 51,181,787 V307A probably damaging Het
Tmem38a T A 8: 72,579,970 F98I probably damaging Het
Trp73 A G 4: 154,081,323 probably null Het
Usp29 A G 7: 6,961,530 E124G probably damaging Het
Other mutations in Fzd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Fzd3 APN 14 65239898 missense probably damaging 1.00
IGL02505:Fzd3 APN 14 65253106 missense probably benign
IGL02568:Fzd3 APN 14 65235940 splice site probably benign
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
Predicted Primers
Posted On2014-01-15