Incidental Mutation 'R5980:Sfrp5'
ID 502002
Institutional Source Beutler Lab
Gene Symbol Sfrp5
Ensembl Gene ENSMUSG00000018822
Gene Name secreted frizzled-related sequence protein 5
Synonyms SARP3
MMRRC Submission 044162-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5980 (G1)
Quality Score 40.0076
Status Validated
Chromosome 19
Chromosomal Location 42186410-42190691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42190411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 14 (L14M)
Ref Sequence ENSEMBL: ENSMUSP00000018966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018966]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000018966
AA Change: L14M
SMART Domains Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: L14M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
FRI 49 164 6.28e-58 SMART
C345C 191 294 1e-17 SMART
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 96% (50/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,544,018 (GRCm39) N508D possibly damaging Het
Ago1 C T 4: 126,354,362 (GRCm39) probably benign Het
Apol6 A T 15: 76,935,219 (GRCm39) T163S possibly damaging Het
Arhgap27 T C 11: 103,247,095 (GRCm39) T33A probably benign Het
Atg7 C A 6: 114,657,197 (GRCm39) F132L possibly damaging Het
Cep104 C A 4: 154,072,930 (GRCm39) A396E probably benign Het
Cers4 T A 8: 4,568,269 (GRCm39) C107* probably null Het
Cntn6 T C 6: 104,825,093 (GRCm39) S878P probably damaging Het
Dnah6 T C 6: 73,158,705 (GRCm39) K633E probably benign Het
Dst T A 1: 34,221,972 (GRCm39) I2592K probably benign Het
Ep400 G A 5: 110,881,595 (GRCm39) probably benign Het
Fbn1 A G 2: 125,157,324 (GRCm39) C2320R probably damaging Het
Gpi1 A G 7: 33,928,351 (GRCm39) probably null Het
Gse1 T G 8: 120,956,376 (GRCm39) probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Ighmbp2 G T 19: 3,315,295 (GRCm39) H708Q probably benign Het
Igkv10-95 T C 6: 68,657,573 (GRCm39) S10P probably damaging Het
Igkv14-100 T C 6: 68,496,009 (GRCm39) V5A probably benign Het
Irgq G A 7: 24,232,770 (GRCm39) G204S probably damaging Het
Kansl1 T C 11: 104,234,463 (GRCm39) K681R possibly damaging Het
Kcnv1 C A 15: 44,972,810 (GRCm39) V358L probably damaging Het
Lrp2 A T 2: 69,365,349 (GRCm39) S275T probably damaging Het
Lysmd1 A T 3: 95,045,219 (GRCm39) D155V probably damaging Het
Magel2 A T 7: 62,030,344 (GRCm39) I1083F unknown Het
Mta3 T A 17: 84,015,834 (GRCm39) V12D probably damaging Het
Mtmr4 T C 11: 87,494,977 (GRCm39) I423T probably damaging Het
Mup11 A G 4: 60,616,887 (GRCm39) Y16H possibly damaging Het
Mycbp G A 4: 123,804,889 (GRCm39) V91I probably benign Het
Ngly1 A C 14: 16,270,509 (GRCm38) Q72P possibly damaging Het
Nol4 T A 18: 23,085,258 (GRCm39) Q52L probably damaging Het
Nrcam T C 12: 44,618,416 (GRCm39) V808A probably damaging Het
Or10p22 A G 10: 128,826,309 (GRCm39) H176R probably damaging Het
Or5ak23 A T 2: 85,244,509 (GRCm39) F238Y probably damaging Het
Or8k24 A T 2: 86,216,141 (GRCm39) L207* probably null Het
Pate10 A C 9: 35,652,911 (GRCm39) D51A probably damaging Het
Pik3c2b C A 1: 133,016,046 (GRCm39) D869E probably benign Het
Pom121l2 T C 13: 22,167,546 (GRCm39) S606P probably damaging Het
Prdm15 G A 16: 97,613,770 (GRCm39) R517* probably null Het
Ralgapa1 T A 12: 55,817,401 (GRCm39) probably null Het
Saraf T A 8: 34,632,541 (GRCm39) F207I probably benign Het
Sema6d A G 2: 124,506,628 (GRCm39) D874G probably damaging Het
Sidt1 A T 16: 44,083,675 (GRCm39) C485* probably null Het
Sptbn4 A G 7: 27,071,596 (GRCm39) Y1618H probably damaging Het
Syt14 T C 1: 192,662,716 (GRCm39) Q127R possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Ticrr G A 7: 79,310,703 (GRCm39) A206T probably damaging Het
Tmem132d T A 5: 127,861,662 (GRCm39) I820F probably benign Het
Trafd1 A G 5: 121,511,520 (GRCm39) Y433H probably damaging Het
Trim68 A G 7: 102,328,038 (GRCm39) V305A probably damaging Het
Vmn2r58 T A 7: 41,514,480 (GRCm39) Y163F possibly damaging Het
Vmn2r83 T A 10: 79,314,626 (GRCm39) H291Q probably benign Het
Vmn2r95 A G 17: 18,661,624 (GRCm39) I457V probably benign 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
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
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'- AAGACCTGGGTGTCTGAGTG -3'
(R):5'- GAAAGACTCAGGGTTCCTCC -3'

Sequencing Primer
(F):5'- TGTCTGAGTGGCAGCGC -3'
(R):5'- CTGCAGATTGGCTAGGGAAC -3'
Posted On 2018-02-15