Incidental Mutation 'IGL03347:Sfrp5'
ID 419527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfrp5
Ensembl Gene ENSMUSG00000018822
Gene Name secreted frizzled-related sequence protein 5
Synonyms SARP3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03347
Quality Score
Status
Chromosome 19
Chromosomal Location 42186410-42190691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42187207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 288 (M288L)
Ref Sequence ENSEMBL: ENSMUSP00000018966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018966] [ENSMUST00000169536]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018966
AA Change: M288L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: M288L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
FRI 49 164 6.28e-58 SMART
C345C 191 294 1e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169536
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820

DomainStartEndE-ValueType
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
transmembrane domain 190 212 N/A INTRINSIC
low complexity region 280 290 N/A INTRINSIC
FYVE 342 415 2.52e-4 SMART
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,870,534 (GRCm39) S670T possibly damaging Het
Adamts9 G T 6: 92,864,413 (GRCm39) Y185* probably null Het
Ahcyl A G 16: 45,974,852 (GRCm39) V175A probably benign Het
Arid3a T A 10: 79,787,113 (GRCm39) S512R possibly damaging Het
Atf6b T C 17: 34,872,214 (GRCm39) V524A probably damaging Het
Camk2d A G 3: 126,590,550 (GRCm39) T254A probably damaging Het
Camsap2 G T 1: 136,208,724 (GRCm39) Q923K possibly damaging Het
Car10 G A 11: 92,991,122 (GRCm39) probably benign Het
Ccdc39 A G 3: 33,891,992 (GRCm39) L160P probably damaging Het
Cdh20 A T 1: 110,065,973 (GRCm39) D749V possibly damaging Het
Cox6a2 A T 7: 127,804,900 (GRCm39) probably benign Het
Cpne1 A T 2: 155,921,096 (GRCm39) Y65N probably damaging Het
Dnm1 T C 2: 32,243,199 (GRCm39) D8G probably benign Het
Emsy A G 7: 98,259,892 (GRCm39) S140P probably damaging Het
Fam13b G A 18: 34,595,104 (GRCm39) probably benign Het
Fbn2 T C 18: 58,146,737 (GRCm39) R2720G probably damaging Het
Fkbpl A G 17: 34,865,287 (GRCm39) probably benign Het
Gpr179 A G 11: 97,242,664 (GRCm39) L60P probably damaging Het
Iftap A G 2: 101,413,864 (GRCm39) probably null Het
Igsf10 A T 3: 59,239,321 (GRCm39) S287T possibly damaging Het
Kat2b G A 17: 53,931,379 (GRCm39) probably null Het
Kazald1 A G 19: 45,066,855 (GRCm39) D218G possibly damaging Het
Mbtd1 A G 11: 93,814,005 (GRCm39) E216G probably benign Het
Mtmr9 C A 14: 63,781,016 (GRCm39) V25L probably benign Het
Myo16 A G 8: 10,426,120 (GRCm39) probably null Het
Nfkbil1 A T 17: 35,439,559 (GRCm39) V318E probably damaging Het
Or2ag15 A T 7: 106,340,177 (GRCm39) probably benign Het
Or5g9 T C 2: 85,552,151 (GRCm39) V134A probably benign Het
Pidd1 A G 7: 141,019,081 (GRCm39) V800A probably damaging Het
Ptprs G A 17: 56,742,972 (GRCm39) S390L probably benign Het
Ralgapb G A 2: 158,307,880 (GRCm39) V729I possibly damaging Het
Slc26a1 C A 5: 108,821,676 (GRCm39) G71V probably damaging Het
Srcin1 A T 11: 97,416,170 (GRCm39) S1021T probably damaging Het
Supt6 A T 11: 78,123,011 (GRCm39) M124K possibly damaging Het
Thada A G 17: 84,705,633 (GRCm39) F1157S probably damaging Het
Tmcc2 A G 1: 132,285,390 (GRCm39) S424P probably damaging Het
Trim37 G A 11: 87,092,447 (GRCm39) R752Q possibly damaging Het
Unc80 A T 1: 66,734,625 (GRCm39) Q238L probably damaging Het
Vmn2r23 C A 6: 123,681,333 (GRCm39) H80Q probably benign Het
Wnt9a A T 11: 59,221,740 (GRCm39) T213S probably damaging Het
Zfp953 T A 13: 67,491,490 (GRCm39) Q154L probably benign Het
Other mutations in Sfrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02387:Sfrp5 APN 19 42,187,468 (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
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
Posted On 2016-08-02