Incidental Mutation 'R5829:Sfrp5'
| ID |
450346 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
R5829 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
42186410-42190691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42190095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018966]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018966
AA Change: Y119C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018966
Gene: ENSMUSG00000018822
AA Change: Y119C
| 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: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atp6v1e2 |
T |
C |
17: 87,252,144 (GRCm39) |
R85G |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,550,918 (GRCm39) |
H391R |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,647,899 (GRCm39) |
H69R |
probably damaging |
Het |
| Cimip2a |
G |
A |
2: 25,108,869 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
| Dab2ip |
ATCCT |
ATCCTCCT |
2: 35,597,787 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
G |
A |
1: 77,421,631 (GRCm39) |
L284F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,061,454 (GRCm39) |
S4346P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,125,596 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
C |
A |
6: 28,419,690 (GRCm39) |
|
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,654,674 (GRCm39) |
S394P |
probably damaging |
Het |
| Gdf9 |
C |
T |
11: 53,324,516 (GRCm39) |
T95M |
probably benign |
Het |
| Gpr179 |
G |
A |
11: 97,226,524 (GRCm39) |
S1877L |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,292,547 (GRCm39) |
V380A |
probably damaging |
Het |
| Il17c |
G |
A |
8: 123,148,970 (GRCm39) |
R38Q |
probably damaging |
Het |
| Il17rd |
G |
A |
14: 26,814,042 (GRCm39) |
|
probably null |
Het |
| Iqch |
C |
T |
9: 63,332,639 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
C |
T |
11: 103,432,712 (GRCm39) |
E1310K |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,168,101 (GRCm39) |
S456R |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,865,404 (GRCm38) |
Y601H |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,540,879 (GRCm39) |
P936L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,545 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,942 (GRCm39) |
V312A |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,060,139 (GRCm39) |
T211A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,171,893 (GRCm39) |
F710L |
possibly damaging |
Het |
| Repin1 |
A |
T |
6: 48,571,766 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,682,902 (GRCm39) |
E340V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,076 (GRCm39) |
S1158P |
probably damaging |
Het |
| S100a16 |
A |
T |
3: 90,449,454 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Scg2 |
A |
G |
1: 79,414,637 (GRCm39) |
S29P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,986 (GRCm39) |
T916A |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,991,512 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem212 |
C |
A |
3: 27,939,081 (GRCm39) |
C135F |
possibly damaging |
Het |
| Unc13c |
T |
A |
9: 73,600,650 (GRCm39) |
N1365Y |
probably benign |
Het |
| Usp13 |
G |
T |
3: 32,940,672 (GRCm39) |
G395C |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,812 (GRCm39) |
N34S |
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 |
|
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 |
|
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'- TTTGGGGAGAGGATCAGTCC -3'
(R):5'- GTACGACTACTACGGTTGGCAG -3'
Sequencing Primer
(F):5'- ATCAGTCCGAGGCGCTCTG -3'
(R):5'- CTCTGTCACACGGTGGGCTAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation