Incidental Mutation 'IGL03347:Sfrp5'
ID419527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfrp5
Ensembl Gene ENSMUSG00000018822
Gene Namesecreted frizzled-related sequence protein 5
SynonymsSARP3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03347
Quality Score
Status
Chromosome19
Chromosomal Location42197971-42202252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42198768 bp
ZygosityHeterozygous
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]
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: 30,959,238 S670T possibly damaging Het
Adamts9 G T 6: 92,887,432 Y185* probably null Het
Arid3a T A 10: 79,951,279 S512R possibly damaging Het
Atf6b T C 17: 34,653,240 V524A probably damaging Het
B230118H07Rik A G 2: 101,583,519 probably null Het
Camk2d A G 3: 126,796,901 T254A probably damaging Het
Camsap2 G T 1: 136,280,986 Q923K possibly damaging Het
Car10 G A 11: 93,100,296 probably benign Het
Ccdc39 A G 3: 33,837,843 L160P probably damaging Het
Cdh7 A T 1: 110,138,243 D749V possibly damaging Het
Cox6a2 A T 7: 128,205,728 probably benign Het
Cpne1 A T 2: 156,079,176 Y65N probably damaging Het
Dnm1 T C 2: 32,353,187 D8G probably benign Het
Emsy A G 7: 98,610,685 S140P probably damaging Het
Fam13b G A 18: 34,462,051 probably benign Het
Fbn2 T C 18: 58,013,665 R2720G probably damaging Het
Fkbpl A G 17: 34,646,313 probably benign Het
Gm4737 A G 16: 46,154,489 V175A probably benign Het
Gpr179 A G 11: 97,351,838 L60P probably damaging Het
Igsf10 A T 3: 59,331,900 S287T possibly damaging Het
Kat2b G A 17: 53,624,351 probably null Het
Kazald1 A G 19: 45,078,416 D218G possibly damaging Het
Mbtd1 A G 11: 93,923,179 E216G probably benign Het
Mtmr9 C A 14: 63,543,567 V25L probably benign Het
Myo16 A G 8: 10,376,120 probably null Het
Nfkbil1 A T 17: 35,220,583 V318E probably damaging Het
Olfr1009 T C 2: 85,721,807 V134A probably benign Het
Olfr697 A T 7: 106,740,970 probably benign Het
Pidd1 A G 7: 141,439,168 V800A probably damaging Het
Ptprs G A 17: 56,435,972 S390L probably benign Het
Ralgapb G A 2: 158,465,960 V729I possibly damaging Het
Slc26a1 C A 5: 108,673,810 G71V probably damaging Het
Srcin1 A T 11: 97,525,344 S1021T probably damaging Het
Supt6 A T 11: 78,232,185 M124K possibly damaging Het
Thada A G 17: 84,398,205 F1157S probably damaging Het
Tmcc2 A G 1: 132,357,652 S424P probably damaging Het
Trim37 G A 11: 87,201,621 R752Q possibly damaging Het
Unc80 A T 1: 66,695,466 Q238L probably damaging Het
Vmn2r23 C A 6: 123,704,374 H80Q probably benign Het
Wnt9a A T 11: 59,330,914 T213S probably damaging Het
Zfp953 T A 13: 67,343,426 Q154L probably benign Het
Other mutations in Sfrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02387:Sfrp5 APN 19 42199029 missense probably benign 0.00
R1686:Sfrp5 UTSW 19 42201704 missense possibly damaging 0.88
R1911:Sfrp5 UTSW 19 42198798 missense probably benign
R2005:Sfrp5 UTSW 19 42198836 missense probably benign 0.03
R3815:Sfrp5 UTSW 19 42198791 missense probably benign 0.06
R3930:Sfrp5 UTSW 19 42201818 missense probably damaging 1.00
R5829:Sfrp5 UTSW 19 42201656 missense probably damaging 1.00
R5980:Sfrp5 UTSW 19 42201972 missense unknown
R6351:Sfrp5 UTSW 19 42201824 missense possibly damaging 0.91
R6702:Sfrp5 UTSW 19 42201827 missense probably benign 0.02
R6764:Sfrp5 UTSW 19 42199799 missense probably benign 0.00
R6836:Sfrp5 UTSW 19 42201710 missense probably damaging 0.97
R6895:Sfrp5 UTSW 19 42199788 missense probably damaging 1.00
R7024:Sfrp5 UTSW 19 42201765 missense possibly damaging 0.56
R7543:Sfrp5 UTSW 19 42198863 missense possibly damaging 0.67
R8442:Sfrp5 UTSW 19 42198797 missense probably benign 0.01
Posted On2016-08-02