Incidental Mutation 'R6764:Sfrp5'
ID 531837
Institutional Source Beutler Lab
Gene Symbol Sfrp5
Ensembl Gene ENSMUSG00000018822
Gene Name secreted frizzled-related sequence protein 5
Synonyms SARP3
MMRRC Submission 044880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6764 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 42186410-42190691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42188238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 194 (M194L)
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: M194L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: M194L

DomainStartEndE-ValueType
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: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 G T 11: 53,290,657 (GRCm39) R539L probably damaging Het
Aox1 T A 1: 58,389,441 (GRCm39) Y1147N probably damaging Het
Arhgef25 A G 10: 127,019,970 (GRCm39) F423L probably damaging Het
Atp1a2 A T 1: 172,112,181 (GRCm39) D571E probably benign Het
Bank1 A G 3: 135,948,701 (GRCm39) S159P probably damaging Het
Bcan C A 3: 87,895,685 (GRCm39) R817L probably damaging Het
Cacna1g A G 11: 94,304,014 (GRCm39) S1990P possibly damaging Het
Ccna1 G A 3: 54,953,499 (GRCm39) T368M probably damaging Het
Chia1 T C 3: 106,038,056 (GRCm39) probably null Het
Ctbp1 T C 5: 33,416,589 (GRCm39) H136R possibly damaging Het
Dner T G 1: 84,472,502 (GRCm39) D366A probably damaging Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Evpl A G 11: 116,113,770 (GRCm39) S1307P probably damaging Het
Fgd5 T A 6: 91,966,402 (GRCm39) N720K probably damaging Het
Fmn1 A G 2: 113,355,560 (GRCm39) E667G unknown Het
Gm4846 A G 1: 166,319,121 (GRCm39) C206R probably benign Het
Grpel1 G A 5: 36,622,569 (GRCm39) R11H probably benign Het
Gsn A G 2: 35,174,056 (GRCm39) Y55C probably damaging Het
Hephl1 G A 9: 15,000,217 (GRCm39) T345I possibly damaging Het
Ints2 T A 11: 86,103,605 (GRCm39) K1150N probably benign Het
Itga4 C A 2: 79,155,958 (GRCm39) H975N probably benign Het
Musk T C 4: 58,354,027 (GRCm39) V360A probably damaging Het
Naalad2 A T 9: 18,314,185 (GRCm39) probably benign Het
Ninj2 G T 6: 120,175,011 (GRCm39) A51S probably benign Het
Nscme3l A G 19: 5,552,900 (GRCm39) S294P probably damaging Het
Pcdhac1 T C 18: 37,223,732 (GRCm39) Y182H probably damaging Het
Pitpnm3 A G 11: 71,942,059 (GRCm39) F916S probably damaging Het
Sigirr C T 7: 140,673,155 (GRCm39) V99I probably benign Het
Smco2 A G 6: 146,772,827 (GRCm39) D343G probably damaging Het
Snap91 A G 9: 86,674,234 (GRCm39) I584T probably benign Het
Syne1 G A 10: 5,179,011 (GRCm39) Q4488* probably null Het
Tbc1d24 A C 17: 24,404,754 (GRCm39) F130C possibly damaging Het
Trpm7 A G 2: 126,686,340 (GRCm39) V296A possibly damaging Het
Ttll11 T C 2: 35,780,460 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,565,046 (GRCm39) D311G probably damaging Het
Vmn2r63 A G 7: 42,552,695 (GRCm39) S854P probably damaging Het
Zfp330 C T 8: 83,493,934 (GRCm39) C109Y probably damaging Het
Zfp534 C T 4: 147,759,175 (GRCm39) G498D probably benign Het
Zfp62 A G 11: 49,105,996 (GRCm39) D29G 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
R6702:Sfrp5 UTSW 19 42,190,266 (GRCm39) missense probably benign 0.02
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
(F):5'- GGGCCCCATCCATCTTTTAG -3'
(R):5'- GTCCCTGCACTATATGAGCTCTTG -3'

Sequencing Primer
(F):5'- CATCCATCTTTTAGCAAGCTAAGC -3'
(R):5'- CCTGCACTATATGAGCTCTTGAATTG -3'
Posted On 2018-08-29