|Institutional Source||Beutler Lab|
|Gene Name||secreted frizzled-related sequence protein 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7024 (G1)|
|Chromosomal Location||42197971-42202252 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 42201765 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 83 (K83E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018966 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018966]|
|Predicted Effect||possibly damaging
AA Change: K83E
PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: K83E
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
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||
|Other mutations in Sfrp5||
(F):5'- TTGTGGCAGTGCAGCATCTC -3'
(R):5'- ACTTGGACGACCCTAGTAGCAG -3'
(F):5'- CATCTCGGGCCAAGGGAAAC -3'
(R):5'- AACATCCAGCCATGTGGG -3'