Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:Sfrp5'

545877

Institutional Source

Beutler Lab

Gene Symbol

Sfrp5

Ensembl Gene

ENSMUSG00000018822

Gene Name

secreted frizzled-related sequence protein 5

Synonyms

SARP3

MMRRC Submission

045125-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42186410-42190691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42190204 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018966
AA Change: K83E

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: K83E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
En1	C	T	1: 120,531,051 (GRCm39)	P97L	unknown	Het
Esd	T	A	14: 74,982,102 (GRCm39)	F172L	probably damaging	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Optn	T	C	2: 5,057,648 (GRCm39)		probably null	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Snx15	T	A	19: 6,170,626 (GRCm39)	Q271L	probably damaging	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Tbc1d7	A	T	13: 43,308,211 (GRCm39)	F85I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Trpv2	C	A	11: 62,475,287 (GRCm39)	S233R	probably benign	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	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
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
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'- TTGTGGCAGTGCAGCATCTC -3'
(R):5'- ACTTGGACGACCCTAGTAGCAG -3'

Sequencing Primer
(F):5'- CATCTCGGGCCAAGGGAAAC -3'
(R):5'- AACATCCAGCCATGTGGG -3'

Posted On

2019-05-13