Incidental Mutation 'IGL01902:Frzb'
| ID |
179557 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Frzb
|
| Ensembl Gene |
ENSMUSG00000027004 |
| Gene Name |
frizzled-related protein |
| Synonyms |
fritz, Frp, frzb-1, Sfrp3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
IGL01902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
80242314-80277740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80243711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 323
(S323C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028389]
|
| AlphaFold |
P97401 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF SECRETED FRIZZLED-RELATED PROTEIN 3 (SFRP-3;FZB) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028389
AA Change: S323C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
AA Change: S323C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
FRI
|
34 |
152 |
1.44e-66 |
SMART |
|
C345C
|
187 |
292 |
3.8e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142459
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for one null allele display defects in motor coordination and capability and a decrease in thermal pain sensation. Mice homozygous for another null allele display enhanced reactive bone formation and cortical bone abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,147,267 (GRCm39) |
S228P |
probably damaging |
Het |
| Adamtsl2 |
A |
T |
2: 26,977,264 (GRCm39) |
I242F |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,789,933 (GRCm39) |
L284P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,309,181 (GRCm39) |
I138T |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,731 (GRCm39) |
L2704S |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,806,895 (GRCm39) |
P2442T |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,750,207 (GRCm39) |
T113S |
possibly damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,766,632 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
A |
19: 39,637,470 (GRCm39) |
D2V |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ins2 |
C |
T |
7: 142,233,179 (GRCm39) |
C31Y |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,948,179 (GRCm39) |
N234Y |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,698,720 (GRCm39) |
F73L |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,395,919 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
A |
G |
12: 82,025,868 (GRCm39) |
T1538A |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,940,732 (GRCm39) |
V47D |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,002 (GRCm39) |
E502G |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,156,934 (GRCm39) |
V1886M |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,648,181 (GRCm39) |
H676L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,829,422 (GRCm39) |
N607Y |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,132 (GRCm39) |
T233I |
possibly damaging |
Het |
| Snx13 |
A |
T |
12: 35,183,306 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,916,776 (GRCm39) |
C510S |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,795,756 (GRCm39) |
M242K |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,103,548 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Frzb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02492:Frzb
|
APN |
2 |
80,254,935 (GRCm39) |
splice site |
probably benign |
|
|
IGL02680:Frzb
|
APN |
2 |
80,254,970 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1171:Frzb
|
UTSW |
2 |
80,268,834 (GRCm39) |
splice site |
probably null |
|
|
R1323:Frzb
|
UTSW |
2 |
80,243,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1323:Frzb
|
UTSW |
2 |
80,243,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1797:Frzb
|
UTSW |
2 |
80,276,872 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1854:Frzb
|
UTSW |
2 |
80,276,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1920:Frzb
|
UTSW |
2 |
80,276,772 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1961:Frzb
|
UTSW |
2 |
80,254,945 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3086:Frzb
|
UTSW |
2 |
80,248,858 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4738:Frzb
|
UTSW |
2 |
80,254,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4916:Frzb
|
UTSW |
2 |
80,276,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Frzb
|
UTSW |
2 |
80,248,259 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6701:Frzb
|
UTSW |
2 |
80,277,163 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7211:Frzb
|
UTSW |
2 |
80,248,669 (GRCm39) |
nonsense |
probably null |
|
|
R7354:Frzb
|
UTSW |
2 |
80,277,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7687:Frzb
|
UTSW |
2 |
80,254,979 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8705:Frzb
|
UTSW |
2 |
80,277,241 (GRCm39) |
start gained |
probably benign |
|
|
R9064:Frzb
|
UTSW |
2 |
80,277,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation