Incidental Mutation 'IGL02035:Fzd2'
ID184488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd2
Ensembl Gene ENSMUSG00000050288
Gene Namefrizzled class receptor 2
SynonymsMfz10a, Fz10, Mfz10
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.356) question?
Stock #IGL02035
Quality Score
Status
Chromosome11
Chromosomal Location102604396-102608058 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 102606444 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 571 (*571W)
Ref Sequence ENSEMBL: ENSMUSP00000091463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057893]
Predicted Effect probably null
Transcript: ENSMUST00000057893
AA Change: *571W
SMART Domains Protein: ENSMUSP00000091463
Gene: ENSMUSG00000050288
AA Change: *571W

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FRI 43 160 7.47e-74 SMART
low complexity region 176 195 N/A INTRINSIC
Frizzled 239 563 3.32e-218 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 intronless 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. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
PHENOTYPE: About 50% of mice homozygous for a reporter allele display a cleft palate and die as neonates; the remaining 50% survive exhibiting a variable degree of postnatal runting and reduced olfactory sensitivity to various odorants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik G T 17: 25,947,162 H384N probably benign Het
Ahctf1 A T 1: 179,766,014 I1135N probably benign Het
Atl1 A G 12: 69,960,544 probably benign Het
Atr A G 9: 95,866,682 N427D probably benign Het
Chd2 T C 7: 73,441,627 probably null Het
Cnot4 A T 6: 35,070,251 V142D probably damaging Het
Ctnnd1 A T 2: 84,620,081 V265E probably damaging Het
Ddx27 G T 2: 167,029,512 V510F probably benign Het
Elac2 A G 11: 65,001,835 S822G probably benign Het
Fat3 A T 9: 16,377,970 F86I probably benign Het
Fbn1 T A 2: 125,335,362 probably null Het
Fgd4 C T 16: 16,490,416 probably benign Het
Furin T C 7: 80,390,987 E701G probably benign Het
Gm9 A T X: 37,210,891 H3Q probably benign Het
Jak2 T C 19: 29,286,408 V441A probably benign Het
Kcnj3 T A 2: 55,437,578 N126K probably damaging Het
Lca5 T C 9: 83,423,312 E147G probably damaging Het
Magt1 G T X: 105,983,776 probably null Het
Nkx6-2 A T 7: 139,581,685 W195R probably damaging Het
Nt5c1a A T 4: 123,214,102 S193C possibly damaging Het
Olfr812 A G 10: 129,842,790 L84P possibly damaging Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pecam1 C T 11: 106,695,859 A277T probably benign Het
Polr1c A G 17: 46,246,159 V66A possibly damaging Het
Proser1 T C 3: 53,478,830 V711A probably benign Het
Sbp A G 17: 23,942,612 N19S possibly damaging Het
Sh3bp4 A G 1: 89,143,690 T87A probably benign Het
Vmn1r59 A T 7: 5,454,209 I184N possibly damaging Het
Zcchc14 T C 8: 121,604,615 probably benign Het
Other mutations in Fzd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Fzd2 APN 11 102605782 missense possibly damaging 0.94
IGL02034:Fzd2 APN 11 102604904 missense probably damaging 1.00
PIT4585001:Fzd2 UTSW 11 102605747 missense probably damaging 0.99
R0201:Fzd2 UTSW 11 102606122 missense probably damaging 1.00
R1146:Fzd2 UTSW 11 102605380 missense possibly damaging 0.76
R1146:Fzd2 UTSW 11 102605380 missense possibly damaging 0.76
R1530:Fzd2 UTSW 11 102605308 missense probably benign 0.00
R1589:Fzd2 UTSW 11 102606328 missense probably benign 0.06
R1676:Fzd2 UTSW 11 102605881 missense probably damaging 1.00
R2057:Fzd2 UTSW 11 102605933 missense probably damaging 1.00
R2219:Fzd2 UTSW 11 102605423 missense probably benign 0.01
R2410:Fzd2 UTSW 11 102605627 missense possibly damaging 0.71
R5058:Fzd2 UTSW 11 102604807 missense probably damaging 0.99
R5296:Fzd2 UTSW 11 102606155 missense probably damaging 0.96
R5580:Fzd2 UTSW 11 102605839 missense probably damaging 0.99
R5788:Fzd2 UTSW 11 102605467 missense probably benign 0.03
R6104:Fzd2 UTSW 11 102606335 missense probably damaging 1.00
R6452:Fzd2 UTSW 11 102604985 missense probably damaging 1.00
R7454:Fzd2 UTSW 11 102605129 missense probably damaging 1.00
R7774:Fzd2 UTSW 11 102605488 missense possibly damaging 0.88
Posted On2014-05-07