Mutagenetix > Incidental Mutation

Incidental Mutation 'R3815:Sfrp5'

359694

Institutional Source

Beutler Lab

Gene Symbol

Sfrp5

Ensembl Gene

ENSMUSG00000018822

Gene Name

secreted frizzled-related sequence protein 5

Synonyms

SARP3

MMRRC Submission

040770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3815 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

42186410-42190691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42187230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 280 (R280H)

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: R280H

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: R280H

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

Meta Mutation Damage Score

0.1124

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,558,944 (GRCm39)	S299P	probably damaging	Het
Ankrd6	A	C	4: 32,806,206 (GRCm39)	S618R	probably benign	Het
Apobec3	G	T	15: 79,783,301 (GRCm39)	R126M	possibly damaging	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
AW554918	C	T	18: 25,533,104 (GRCm39)	R253C	probably benign	Het
Cd177	A	G	7: 24,453,817 (GRCm39)	V358A	probably benign	Het
Cdca7l	G	A	12: 117,835,948 (GRCm39)	V95I	probably damaging	Het
Ces1e	A	G	8: 93,928,467 (GRCm39)		probably null	Het
Cfap90	A	G	13: 68,759,344 (GRCm39)	H106R	probably damaging	Het
Coq5	T	G	5: 115,433,957 (GRCm39)	F306V	probably damaging	Het
Cpsf1	A	G	15: 76,485,349 (GRCm39)	V501A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cul5	T	A	9: 53,534,243 (GRCm39)	I630L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dedd	A	G	1: 171,166,469 (GRCm39)	E135G	probably benign	Het
Ecel1	A	G	1: 87,080,622 (GRCm39)	F368S	probably damaging	Het
Ext1	A	C	15: 53,208,485 (GRCm39)	I92S	probably benign	Het
Fbxw5	A	T	2: 25,393,576 (GRCm39)	D268V	possibly damaging	Het
Flacc1	T	G	1: 58,698,164 (GRCm39)	N379T	probably damaging	Het
Gen1	A	T	12: 11,302,034 (GRCm39)	V192E	possibly damaging	Het
Gm11077	T	G	6: 140,675,041 (GRCm39)	V11G	unknown	Het
Ift88	A	T	14: 57,678,438 (GRCm39)	E150V	possibly damaging	Het
Kcna1	T	C	6: 126,620,009 (GRCm39)	R104G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt82	A	G	15: 101,459,035 (GRCm39)	S2P	probably damaging	Het
Luc7l2	T	C	6: 38,547,526 (GRCm39)	S69P	possibly damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Mamstr	G	T	7: 45,293,956 (GRCm39)	R20L	probably damaging	Het
Nav1	C	A	1: 135,398,862 (GRCm39)	K573N	possibly damaging	Het
Or5b104	T	C	19: 13,072,277 (GRCm39)	H245R	probably damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Palld	T	A	8: 62,002,871 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,883,359 (GRCm39)	E329V	probably damaging	Het
Rarres1	T	A	3: 67,422,654 (GRCm39)	D32V	probably benign	Het
Rhobtb1	A	G	10: 69,121,523 (GRCm39)	H53R	possibly damaging	Het
Ryr1	A	T	7: 28,772,327 (GRCm39)	S2494T	probably damaging	Het
Sapcd2	G	A	2: 25,263,518 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp1	A	C	15: 97,954,713 (GRCm39)	D490E	probably damaging	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,703,496 (GRCm39)	T499I	possibly damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Spire1	G	T	18: 67,639,733 (GRCm39)	T273K	probably benign	Het
Tep1	T	C	14: 51,105,772 (GRCm39)	T83A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttn	T	A	2: 76,552,077 (GRCm39)	R29441*	probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het

Other mutations in Sfrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTTTGGAGCCTGTGCAGTAG -3'
(R):5'- ACCGAAAGTTGATTGGAGCCC -3'

Sequencing Primer
(F):5'- TGAAGCCATCCTTGGGGG -3'
(R):5'- AGTTGATTGGAGCCCAGAAG -3'

Posted On

2015-11-23