Mutagenetix > Incidental Mutations

Incidental Mutation 'R6702:Sfrp5'

528843

Institutional Source

Beutler Lab

Gene Symbol

Sfrp5

Ensembl Gene

ENSMUSG00000018822

Gene Name

secreted frizzled-related sequence protein 5

Synonyms

SARP3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

85.0076

Status

Validated

Chromosome

Chromosomal Location

42197971-42202252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42201827 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 62 (T62K)

Ref Sequence

ENSEMBL: ENSMUSP00000018966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018966]

Predicted Effect

probably benign
Transcript: ENSMUST00000018966
AA Change: T62K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: T62K

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Sfrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Sfrp5	APN	19	42199029	missense	probably benign	0.00
IGL03347:Sfrp5	APN	19	42198768	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGTGGCAGTGCAGCATC -3'
(R):5'- ACTTGGACGACCCTAGTAGCAG -3'

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

Posted On

2018-07-24