Incidental Mutation 'IGL01902:Frzb'
ID179557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frzb
Ensembl Gene ENSMUSG00000027004
Gene Namefrizzled-related protein
SynonymsFrp, fritz, frzb-1, Sfrp3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.445) question?
Stock #IGL01902
Quality Score
Status
Chromosome2
Chromosomal Location80411970-80447625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80413367 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 323 (S323C)
Ref Sequence ENSEMBL: ENSMUSP00000028389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028389]
PDB Structure CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF SECRETED FRIZZLED-RELATED PROTEIN 3 (SFRP-3;FZB) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028389
AA Change: S323C

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
AA Change: S323C

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
FRI 34 152 1.44e-66 SMART
C345C 187 292 3.8e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142459
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for one null allele display defects in motor coordination and capability and a decrease in thermal pain sensation. Mice homozygous for another null allele display enhanced reactive bone formation and cortical bone abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,497,843 S228P probably damaging Het
Adamtsl2 A T 2: 27,087,252 I242F probably damaging Het
Bicdl1 A G 5: 115,651,874 L284P probably damaging Het
Bnc2 A G 4: 84,390,944 I138T probably damaging Het
Cep350 A G 1: 155,861,985 L2704S probably damaging Het
Col7a1 C A 9: 108,977,827 P2442T unknown Het
Cpne6 A T 14: 55,512,750 T113S possibly damaging Het
Crnkl1 T C 2: 145,924,712 probably null Het
Cyp2c67 T A 19: 39,649,026 D2V probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Ins2 C T 7: 142,679,442 C31Y probably damaging Het
Lipf A T 19: 33,970,779 N234Y probably benign Het
Mtf1 T C 4: 124,804,927 F73L probably damaging Het
Nrxn1 A G 17: 91,088,491 probably null Het
Pcnx A G 12: 81,979,094 T1538A probably damaging Het
Polr1a T A 6: 71,963,748 V47D probably damaging Het
Prune2 A G 19: 17,118,638 E502G probably benign Het
Ralgapa2 C T 2: 146,315,014 V1886M probably damaging Het
Rapgef3 T A 15: 97,750,300 H676L probably benign Het
Rbm20 A T 19: 53,840,991 N607Y probably damaging Het
Smc5 G A 19: 23,259,768 T233I possibly damaging Het
Snx13 A T 12: 35,133,307 probably null Het
Suz12 T A 11: 80,025,950 C510S probably benign Het
Tab2 A T 10: 7,919,992 M242K probably benign Het
Tep1 A G 14: 50,866,091 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Frzb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02492:Frzb APN 2 80424591 splice site probably benign
IGL02680:Frzb APN 2 80424626 missense possibly damaging 0.95
R1171:Frzb UTSW 2 80438490 splice site probably null
R1323:Frzb UTSW 2 80413376 missense probably benign 0.00
R1323:Frzb UTSW 2 80413376 missense probably benign 0.00
R1797:Frzb UTSW 2 80446528 missense possibly damaging 0.92
R1854:Frzb UTSW 2 80446380 missense possibly damaging 0.91
R1920:Frzb UTSW 2 80446428 missense probably damaging 0.98
R1961:Frzb UTSW 2 80424601 missense probably benign 0.30
R3086:Frzb UTSW 2 80418514 missense possibly damaging 0.87
R4738:Frzb UTSW 2 80424597 critical splice donor site probably null
R4916:Frzb UTSW 2 80446527 missense probably damaging 1.00
R5454:Frzb UTSW 2 80417915 missense probably damaging 0.97
R6701:Frzb UTSW 2 80446819 missense possibly damaging 0.81
R7211:Frzb UTSW 2 80418325 nonsense probably null
R7354:Frzb UTSW 2 80446809 missense probably damaging 1.00
R7687:Frzb UTSW 2 80424635 missense probably benign 0.02
R8705:Frzb UTSW 2 80446897 start gained probably benign
Posted On2014-05-07