Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02387:Sfrp5'

291579

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 #

IGL02387

Quality Score

Status

Chromosome

Chromosomal Location

42186410-42190691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42187468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 201 (V201I)

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: V201I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: V201I

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acap3	T	G	4: 155,986,617 (GRCm39)	L311R	probably damaging	Het
Actr6	T	A	10: 89,550,846 (GRCm39)	N316I	probably damaging	Het
Adarb2	T	A	13: 8,619,994 (GRCm39)	V160E	probably damaging	Het
Atm	A	T	9: 53,391,066 (GRCm39)		probably null	Het
Atp2b4	T	C	1: 133,659,627 (GRCm39)	N445S	probably damaging	Het
Clic6	A	G	16: 92,326,807 (GRCm39)	D464G	probably damaging	Het
Clk2	C	T	3: 89,083,698 (GRCm39)		probably benign	Het
Cyp4f40	A	C	17: 32,886,984 (GRCm39)	T152P	probably damaging	Het
Dpp8	A	T	9: 64,952,998 (GRCm39)	I225F	probably damaging	Het
Dspp	A	G	5: 104,323,490 (GRCm39)	Q211R	possibly damaging	Het
Gja1	T	A	10: 56,263,902 (GRCm39)	V87E	possibly damaging	Het
Gm8165	T	C	14: 43,913,696 (GRCm39)	E56G	possibly damaging	Het
Gstp2	T	A	19: 4,091,094 (GRCm39)		probably benign	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Insrr	G	A	3: 87,720,434 (GRCm39)	R1024H	probably damaging	Het
Iqgap2	A	G	13: 95,826,209 (GRCm39)	W538R	probably benign	Het
Lrrc71	T	C	3: 87,650,378 (GRCm39)	I232V	probably damaging	Het
Mphosph8	T	A	14: 56,933,178 (GRCm39)	N808K	probably damaging	Het
Or8h10	T	A	2: 86,808,193 (GRCm39)	R316*	probably null	Het
Pak6	T	C	2: 118,523,714 (GRCm39)	S290P	probably benign	Het
Ptpro	C	T	6: 137,387,978 (GRCm39)	A734V	probably damaging	Het
Reg1	A	T	6: 78,404,321 (GRCm39)	N65I	probably damaging	Het
Rnf17	T	G	14: 56,738,044 (GRCm39)	I1275S	probably damaging	Het
Sgsm1	T	A	5: 113,400,929 (GRCm39)	H987L	possibly damaging	Het
Shank1	A	T	7: 44,006,361 (GRCm39)	Y2026F	possibly damaging	Het
Slc15a2	T	C	16: 36,572,137 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Taar8a	T	A	10: 23,953,260 (GRCm39)	I288N	possibly damaging	Het
Tpbpb	T	G	13: 61,049,668 (GRCm39)	*121C	probably null	Het
Trim29	A	T	9: 43,236,149 (GRCm39)	N460I	probably benign	Het
Trp53tg5	T	A	2: 164,313,376 (GRCm39)	I100F	possibly damaging	Het
Ubr2	T	C	17: 47,274,076 (GRCm39)	T871A	probably benign	Het
Vrk1	A	G	12: 106,036,803 (GRCm39)	E363G	probably damaging	Het
Zfyve19	C	T	2: 119,046,907 (GRCm39)		probably benign	Het

Other mutations in Sfrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16