Incidental Mutation 'R6701:Frzb'
ID 528719
Institutional Source Beutler Lab
Gene Symbol Frzb
Ensembl Gene ENSMUSG00000027004
Gene Name frizzled-related protein
Synonyms Frp, fritz, frzb-1, Sfrp3
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.424) question?
Stock # R6701 (G1)
Quality Score 180.009
Status Not validated
Chromosome 2
Chromosomal Location 80411970-80447625 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80446819 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 8 (R8W)
Ref Sequence ENSEMBL: ENSMUSP00000028389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028389]
AlphaFold P97401
PDB Structure CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF SECRETED FRIZZLED-RELATED PROTEIN 3 (SFRP-3;FZB) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028389
AA Change: R8W

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
AA Change: R8W

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 96.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,355,243 K684N probably damaging Het
Akna C T 4: 63,395,280 G202D probably benign Het
Alpk1 T A 3: 127,729,336 D19V probably damaging Het
Arid4a A T 12: 71,087,512 K1196I probably damaging Het
Asic3 A T 5: 24,414,129 M140L possibly damaging Het
BC055324 T C 1: 163,971,843 probably null Het
Bfsp2 C T 9: 103,479,878 V117M possibly damaging Het
Cd244 C A 1: 171,574,155 L150M possibly damaging Het
Cd3e T C 9: 45,001,053 Y131C probably damaging Het
Clptm1l T C 13: 73,608,906 I202T probably benign Het
Cnot4 G T 6: 35,068,604 T224K probably damaging Het
Col24a1 A G 3: 145,314,380 T171A probably benign Het
Col6a3 C T 1: 90,792,462 R1552Q probably benign Het
Dcc T A 18: 71,809,120 T309S probably benign Het
Ddx21 T C 10: 62,590,691 Y461C probably damaging Het
Dnah10 G A 5: 124,760,159 V989M probably benign Het
Dppa4 A T 16: 48,291,311 K220* probably null Het
Dysf G A 6: 84,112,190 G912S probably damaging Het
Efhb A T 17: 53,399,063 N815K probably benign Het
Eml6 T A 11: 29,785,748 L1139F probably damaging Het
Eprs T G 1: 185,370,890 I78S probably damaging Het
Fat1 C A 8: 44,950,681 S156R probably damaging Het
Guf1 T A 5: 69,558,253 D47E probably damaging Het
Haus3 A T 5: 34,167,734 F194I probably damaging Het
Hivep3 C T 4: 120,094,540 R18W probably damaging Het
Hnf1b A G 11: 83,889,094 T392A probably damaging Het
Hsd17b1 C A 11: 101,080,155 C312* probably null Het
Ighg2b T C 12: 113,307,079 T144A unknown Het
Iqub T A 6: 24,449,745 N707I probably damaging Het
Jhy T C 9: 40,917,591 R340G probably damaging Het
Klra3 C G 6: 130,330,253 V144L probably benign Het
Lamp5 C G 2: 136,059,563 N102K possibly damaging Het
Lrmp G T 6: 145,144,976 E61* probably null Het
Lrrc4 A G 6: 28,830,906 F237L possibly damaging Het
Lyst T A 13: 13,681,485 C2464S probably benign Het
Maml1 T C 11: 50,266,682 E222G probably damaging Het
Med15 C T 16: 17,671,583 probably benign Het
Naalad2 T C 9: 18,385,148 I69V probably null Het
Neb T C 2: 52,291,208 K1129R probably damaging Het
Nsun6 A T 2: 15,036,302 N159K probably benign Het
Nup153 A T 13: 46,687,065 N1022K probably benign Het
Olfr1009 A G 2: 85,722,331 K309E probably benign Het
Olfr1138 C T 2: 87,737,409 R305K probably benign Het
Olfr389 T C 11: 73,776,470 N286D probably damaging Het
Otof T A 5: 30,370,797 K1901* probably null Het
Pde1c A T 6: 56,181,700 Y136N probably damaging Het
Phc1 G T 6: 122,325,774 N263K probably damaging Het
Plxna1 A T 6: 89,319,448 D1871E probably damaging Het
Prdm6 T A 18: 53,536,679 M123K possibly damaging Het
Ranbp17 T C 11: 33,475,066 D430G probably damaging Het
Rsl24d1 C A 9: 73,114,997 T287K probably damaging Het
Scn1a G A 2: 66,337,960 R101W probably damaging Het
Scn8a A G 15: 101,040,096 D1741G probably damaging Het
Serpinb1c T C 13: 32,896,941 Q53R probably benign Het
Serpinf2 C T 11: 75,432,443 R479H probably damaging Het
Sis T A 3: 72,949,527 D448V probably damaging Het
Slc27a6 T A 18: 58,579,875 D256E probably benign Het
Slc30a8 A G 15: 52,331,574 Y243C possibly damaging Het
Slc35f5 T C 1: 125,562,610 V103A probably damaging Het
Slc44a2 T C 9: 21,320,853 probably null Het
Slc7a9 T C 7: 35,459,849 L327P probably damaging Het
Stat4 A G 1: 52,102,974 Y660C probably damaging Het
Terb1 T C 8: 104,472,756 T519A possibly damaging Het
Tonsl A T 15: 76,629,300 S1245T probably damaging Het
Ttn A T 2: 76,788,818 S16072R probably damaging Het
Ttn A T 2: 76,909,246 Y3650N probably benign Het
Uhrf1bp1 T A 17: 27,887,357 C952* probably null Het
Uso1 T C 5: 92,166,585 F117S probably damaging Het
Vmn1r211 T C 13: 22,851,609 H296R probably benign Het
Vmn2r67 G A 7: 85,152,815 P93S probably damaging Het
Xirp2 A T 2: 67,516,225 I2937F possibly damaging Het
Zc2hc1c C A 12: 85,289,672 probably null Het
Zfp12 T C 5: 143,244,464 V182A probably benign Het
Zfp473 G T 7: 44,732,794 A705D possibly damaging Het
Zfp937 G T 2: 150,239,216 G389C probably damaging Het
Zfp990 A G 4: 145,538,178 D582G 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
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
R9064:Frzb UTSW 2 80446708 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAAATGGGTGCGTACATTG -3'
(R):5'- TGGATCCAAGAGAACTGTGATTG -3'

Sequencing Primer
(F):5'- AACTGTTCCATGGCCAGGATG -3'
(R):5'- TCCAAGAGAACTGTGATTGTCCCAG -3'
Posted On 2018-07-24