Incidental Mutation 'R6895:Sfrp5'
ID 538310
Institutional Source Beutler Lab
Gene Symbol Sfrp5
Ensembl Gene ENSMUSG00000018822
Gene Name secreted frizzled-related sequence protein 5
Synonyms SARP3
MMRRC Submission 044989-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6895 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 42186410-42190691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42188227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 197 (S197R)
Ref Sequence ENSEMBL: ENSMUSP00000018966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018966]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018966
AA Change: S197R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: S197R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 A G 18: 12,394,046 (GRCm39) V256A probably benign Het
Arid4a A G 12: 71,110,076 (GRCm39) D139G probably benign Het
AU040320 T C 4: 126,685,723 (GRCm39) W100R probably damaging Het
C4bp T C 1: 130,563,943 (GRCm39) *470W probably null Het
Capn8 C A 1: 182,456,234 (GRCm39) D661E possibly damaging Het
Car14 T C 3: 95,805,472 (GRCm39) T334A probably benign Het
Cfhr4 G A 1: 139,668,210 (GRCm39) P308S possibly damaging Het
Chd6 T A 2: 160,830,260 (GRCm39) T1012S probably damaging Het
Csmd3 T C 15: 47,529,910 (GRCm39) probably null Het
Dnaaf2 A G 12: 69,244,437 (GRCm39) V208A probably benign Het
Dnah11 A G 12: 117,958,926 (GRCm39) W2986R probably damaging Het
Epb42 G A 2: 120,867,104 (GRCm39) probably benign Het
Fam120a A G 13: 49,045,497 (GRCm39) F780L probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Grid2 T C 6: 64,372,283 (GRCm39) F655S probably damaging Het
Homer3 T C 8: 70,737,955 (GRCm39) S2P probably damaging Het
Hydin T C 8: 111,038,883 (GRCm39) V207A probably benign Het
Inpp5j T C 11: 3,445,557 (GRCm39) probably null Het
Jak1 C T 4: 101,011,734 (GRCm39) probably null Het
Jmjd1c A G 10: 67,052,869 (GRCm39) I220V probably benign Het
Kat6a T G 8: 23,425,799 (GRCm39) S1115A possibly damaging Het
Larp4 T G 15: 99,905,611 (GRCm39) probably null Het
Lrrc72 T G 12: 36,259,717 (GRCm39) D43A probably damaging Het
Mptx2 A C 1: 173,105,252 (GRCm39) V13G probably benign Het
Nmbr A T 10: 14,645,704 (GRCm39) *258Y probably null Het
Nup210l C T 3: 90,067,231 (GRCm39) A757V probably damaging Het
Nup62 A G 7: 44,479,157 (GRCm39) K391E possibly damaging Het
Nup93 T A 8: 94,970,314 (GRCm39) I71K probably damaging Het
Or14a256 A T 7: 86,265,323 (GRCm39) C177S probably damaging Het
Or8b51 A C 9: 38,569,385 (GRCm39) L101R probably damaging Het
Pik3cg A G 12: 32,254,346 (GRCm39) M547T possibly damaging Het
Ropn1 A T 16: 34,497,668 (GRCm39) I187F possibly damaging Het
Rtp3 T C 9: 110,816,264 (GRCm39) R96G possibly damaging Het
Slc12a6 A G 2: 112,185,440 (GRCm39) H903R probably damaging Het
Slc26a3 G T 12: 31,513,523 (GRCm39) A482S probably damaging Het
Slc2a12 G T 10: 22,568,084 (GRCm39) A504S probably damaging Het
Slitrk5 C A 14: 111,919,085 (GRCm39) P903Q probably damaging Het
Tas2r123 A T 6: 132,824,133 (GRCm39) H10L probably benign Het
Tex46 T C 4: 136,340,212 (GRCm39) V99A probably benign Het
Top2b T C 14: 16,413,604 (GRCm38) V1024A probably benign Het
Ugt2b36 G A 5: 87,240,157 (GRCm39) T76I probably benign Het
Usp31 G T 7: 121,252,399 (GRCm39) T747K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly 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
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
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'- GCCCCATCCATCTTTTAGCAAG -3'
(R):5'- CTGTCCCTGCACTATATGAGC -3'

Sequencing Primer
(F):5'- CATCCATCTTTTAGCAAGCTAAGC -3'
(R):5'- CCTGCACTATATGAGCTCTTGAATTG -3'
Posted On 2018-11-06