Incidental Mutation 'IGL02492:Frzb'
| ID |
295704 |
| 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: 0.561)
|
| Stock # |
IGL02492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
80242314-80277740 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 80254935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000028389
|
| SMART Domains |
Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
G |
9: 53,367,159 (GRCm39) |
L2482P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,881,945 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,262 (GRCm39) |
E1320G |
probably benign |
Het |
| Ccrl2 |
A |
G |
9: 110,884,871 (GRCm39) |
I209T |
probably benign |
Het |
| Cd200r2 |
A |
G |
16: 44,729,903 (GRCm39) |
K149R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,907,855 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
T |
A |
1: 10,097,377 (GRCm39) |
T291S |
probably benign |
Het |
| Csmd1 |
C |
A |
8: 16,052,597 (GRCm39) |
V2176F |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,595,972 (GRCm39) |
S221R |
probably damaging |
Het |
| Cxcl3 |
A |
G |
5: 90,934,199 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
C |
T |
5: 4,154,304 (GRCm39) |
V2I |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,532,844 (GRCm39) |
F285L |
probably benign |
Het |
| Dst |
T |
G |
1: 34,191,274 (GRCm39) |
|
probably benign |
Het |
| Gm5070 |
A |
T |
3: 95,318,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,402,182 (GRCm38) |
|
noncoding transcript |
Het |
| Grip1 |
A |
G |
10: 119,765,945 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,086,001 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,439 (GRCm39) |
I675N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,060 (GRCm39) |
K235N |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,453 (GRCm39) |
V660L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,194,069 (GRCm39) |
L484R |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,701,602 (GRCm39) |
V305D |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,365,023 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
C |
T |
16: 17,457,215 (GRCm39) |
A391V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,252 (GRCm39) |
L711P |
probably benign |
Het |
| Spag16 |
T |
G |
1: 69,926,688 (GRCm39) |
M261R |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,790,561 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tbcd |
A |
T |
11: 121,387,960 (GRCm39) |
I364L |
probably benign |
Het |
| Trmt13 |
C |
T |
3: 116,376,192 (GRCm39) |
D400N |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,625,001 (GRCm39) |
S2753P |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,346,511 (GRCm39) |
S2917R |
probably damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Frzb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01902:Frzb
|
APN |
2 |
80,243,711 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation