Incidental Mutation 'R6702:Sfrp5'
ID 528843
Institutional Source Beutler Lab
Gene Symbol Sfrp5
Ensembl Gene ENSMUSG00000018822
Gene Name secreted frizzled-related sequence protein 5
Synonyms SARP3
MMRRC Submission 044820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6702 (G1)
Quality Score 85.0076
Status Validated
Chromosome 19
Chromosomal Location 42186410-42190691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42190266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 62 (T62K)
Ref Sequence ENSEMBL: ENSMUSP00000018966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018966]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018966
AA Change: T62K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: T62K

signal peptide 1 26 N/A INTRINSIC
FRI 49 164 6.28e-58 SMART
C345C 191 294 1e-17 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no developmental abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Ak3 A G 19: 29,003,627 (GRCm39) V183A probably damaging Het
Ano10 G T 9: 122,088,630 (GRCm39) Q397K possibly damaging Het
Atg7 C A 6: 114,648,058 (GRCm39) probably null Het
Brpf3 A C 17: 29,029,633 (GRCm39) N531T probably benign Het
Casp2 T C 6: 42,244,985 (GRCm39) V128A probably benign Het
Cdcp2 T C 4: 106,964,283 (GRCm39) C378R probably benign Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Ddx54 T A 5: 120,764,568 (GRCm39) D758E possibly damaging Het
Dlx2 A G 2: 71,376,571 (GRCm39) S56P probably damaging Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnah10 A G 5: 124,882,869 (GRCm39) Y2909C probably damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Herpud1 T C 8: 95,119,154 (GRCm39) probably null Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kif26b C G 1: 178,744,852 (GRCm39) S1649R possibly damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Ltbr A G 6: 125,285,031 (GRCm39) S290P probably benign Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Nbea A G 3: 55,912,923 (GRCm39) Y955H probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or5d46 G A 2: 88,170,586 (GRCm39) V226I probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdhb13 T G 18: 37,577,828 (GRCm39) H735Q probably benign Het
Pcdhb7 A T 18: 37,474,959 (GRCm39) M32L probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pld4 T C 12: 112,731,485 (GRCm39) S213P probably damaging Het
Prkg1 T A 19: 30,970,484 (GRCm39) H209L probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Pxn C T 5: 115,689,955 (GRCm39) L160F probably benign Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Resf1 T A 6: 149,229,376 (GRCm39) N807K probably damaging Het
Rgma A T 7: 73,067,068 (GRCm39) T108S probably damaging Het
Rxrg A G 1: 167,441,374 (GRCm39) S51G probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Sec23b A T 2: 144,401,109 (GRCm39) probably null Het
Slco1a6 T A 6: 142,048,826 (GRCm39) Y318F probably damaging Het
Slit1 A C 19: 41,603,309 (GRCm39) S931A possibly damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Supt6 C A 11: 78,122,626 (GRCm39) R199L possibly damaging Het
Tas2r107 A C 6: 131,636,347 (GRCm39) M234R probably benign Het
Tmem72 C G 6: 116,675,310 (GRCm39) V61L probably benign Het
Trpm5 C A 7: 142,623,055 (GRCm39) probably benign Het
Ttn T G 2: 76,550,456 (GRCm39) T23282P probably damaging Het
Ubr3 A T 2: 69,786,393 (GRCm39) R836W probably benign Het
Umodl1 A G 17: 31,205,273 (GRCm39) probably null Het
Ythdf1 A G 2: 180,560,926 (GRCm39) probably null Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A possibly damaging Het
Zfp811 T C 17: 33,016,816 (GRCm39) E407G probably damaging Het
Other mutations in Sfrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02387:Sfrp5 APN 19 42,187,468 (GRCm39) missense probably benign 0.00
IGL03347:Sfrp5 APN 19 42,187,207 (GRCm39) missense probably benign 0.00
R1686:Sfrp5 UTSW 19 42,190,143 (GRCm39) missense possibly damaging 0.88
R1911:Sfrp5 UTSW 19 42,187,237 (GRCm39) missense probably benign
R2005:Sfrp5 UTSW 19 42,187,275 (GRCm39) missense probably benign 0.03
R3815:Sfrp5 UTSW 19 42,187,230 (GRCm39) missense probably benign 0.06
R3930:Sfrp5 UTSW 19 42,190,257 (GRCm39) missense probably damaging 1.00
R5829:Sfrp5 UTSW 19 42,190,095 (GRCm39) missense probably damaging 1.00
R5980:Sfrp5 UTSW 19 42,190,411 (GRCm39) missense unknown
R6351:Sfrp5 UTSW 19 42,190,263 (GRCm39) missense possibly damaging 0.91
R6764:Sfrp5 UTSW 19 42,188,238 (GRCm39) missense probably benign 0.00
R6836:Sfrp5 UTSW 19 42,190,149 (GRCm39) missense probably damaging 0.97
R6895:Sfrp5 UTSW 19 42,188,227 (GRCm39) missense probably damaging 1.00
R7024:Sfrp5 UTSW 19 42,190,204 (GRCm39) missense possibly damaging 0.56
R7543:Sfrp5 UTSW 19 42,187,302 (GRCm39) missense possibly damaging 0.67
R8442:Sfrp5 UTSW 19 42,187,236 (GRCm39) missense probably benign 0.01
R9121:Sfrp5 UTSW 19 42,190,356 (GRCm39) missense probably damaging 1.00
R9432:Sfrp5 UTSW 19 42,188,225 (GRCm39) missense probably damaging 1.00
R9458:Sfrp5 UTSW 19 42,190,296 (GRCm39) missense probably benign 0.26
R9739:Sfrp5 UTSW 19 42,188,247 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-07-24