Incidental Mutation 'R7687:Frzb'
ID593135
Institutional Source Beutler Lab
Gene Symbol Frzb
Ensembl Gene ENSMUSG00000027004
Gene Namefrizzled-related protein
SynonymsFrp, fritz, frzb-1, Sfrp3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.546) question?
Stock #R7687 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location80411970-80447625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80424635 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 186 (T186S)
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 benign
Transcript: ENSMUST00000028389
AA Change: T186S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
AA Change: T186S

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
FRI 34 152 1.44e-66 SMART
C345C 187 292 3.8e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,258,182 K2383R probably benign Het
Acly C T 11: 100,504,854 probably null Het
Baiap3 T A 17: 25,249,337 I276F possibly damaging Het
Cdc14b A T 13: 64,209,193 D419E probably benign Het
Celsr2 G T 3: 108,397,769 P2165T probably benign Het
Clk4 A G 11: 51,281,398 D476G probably benign Het
Dera A G 6: 137,836,880 T10A Het
Dip2c A T 13: 9,604,581 T742S probably benign Het
Dohh C A 10: 81,387,806 A231E probably benign Het
Dot1l T G 10: 80,789,368 S1150A possibly damaging Het
Eea1 T A 10: 96,026,598 I794N probably benign Het
En2 T C 5: 28,170,289 S277P probably damaging Het
Erich1 A G 8: 14,030,691 L276P probably damaging Het
Flnb A G 14: 7,924,224 N1779S probably damaging Het
Gdf7 T A 12: 8,298,257 R347* probably null Het
Ighv9-4 T C 12: 114,300,263 I17V not run Het
Ipo13 G A 4: 117,911,891 P235S probably benign Het
Itga2 C A 13: 114,866,260 G565C probably damaging Het
Kcnc4 CCCGCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGCCGCCGCCGC 3: 107,458,609 probably benign Het
Kcnk10 A G 12: 98,435,096 I440T probably damaging Het
Kdm3a T A 6: 71,599,492 K779N possibly damaging Het
Kmt2d C T 15: 98,862,120 D1086N unknown Het
Kntc1 A G 5: 123,759,089 I172V probably benign Het
Maip1 A G 1: 57,411,844 E215G probably damaging Het
Mms19 A T 19: 41,955,168 M417K possibly damaging Het
Mslnl T C 17: 25,743,183 V185A probably damaging Het
Naa11 A T 5: 97,391,789 V170E probably benign Het
Ncapg C T 5: 45,699,885 P980S probably benign Het
Olfr170 T C 16: 19,605,735 N310S probably benign Het
Pbxip1 A G 3: 89,448,199 D675G probably damaging Het
Pdlim5 A G 3: 142,277,847 S382P probably benign Het
Pkd1l1 T A 11: 8,854,390 I2184F Het
Plau A G 14: 20,839,798 Y237C probably damaging Het
Ppl T C 16: 5,097,942 T586A probably benign Het
Rapgef6 T G 11: 54,661,075 I923S possibly damaging Het
Rbfox2 C T 15: 77,306,494 G17D unknown Het
Sema3b T C 9: 107,603,814 D108G probably damaging Het
Slc6a20a A G 9: 123,656,266 I297T probably damaging Het
Slit1 A G 19: 41,650,689 F261L probably benign Het
Tcp10a T A 17: 7,345,108 V433D probably damaging Het
Tktl2 A G 8: 66,513,101 E437G probably damaging Het
Tll1 G T 8: 64,121,492 Y109* probably null Het
Tmem79 A G 3: 88,332,581 V274A probably damaging Het
Tnfrsf23 G A 7: 143,681,462 S55L probably benign Het
Ubd T C 17: 37,193,974 probably null Het
Ubl3 C A 5: 148,506,175 R105L possibly damaging Het
Ubl7 A T 9: 57,914,584 D72V probably damaging Het
Wdr55 T C 18: 36,762,023 S81P probably damaging Het
Wtip T C 7: 34,116,619 Y344C probably damaging Het
Zfp488 A G 14: 33,970,400 S269P possibly damaging Het
Zkscan2 A C 7: 123,499,862 S36A probably benign Het
Other mutations in Frzb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01902:Frzb APN 2 80413367 missense probably damaging 0.97
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
Predicted Primers PCR Primer
(F):5'- GTAAGTGACCTTTGTTTCTAAGCC -3'
(R):5'- GCAACAGCAAGATAGTTCCAG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TTCCAGGAGAAAAAGATCAGACAC -3'
Posted On2019-11-12