Incidental Mutation 'R1323:Frzb'
| ID |
172445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frzb
|
| Ensembl Gene |
ENSMUSG00000027004 |
| Gene Name |
frizzled-related protein |
| Synonyms |
fritz, Frp, frzb-1, Sfrp3 |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
80242314-80277740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80243720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 320
(P320S)
|
| 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
AA Change: P320S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
AA Change: P320S
| 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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,783,030 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
| Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGGAAGTAACTTCGGTAGCCAC -3'
(R):5'- GCTGTAGATACACACCCAGATGCTC -3'
Sequencing Primer
(F):5'- TAGCCACGCGGTGTCTG -3'
(R):5'- TAGAGATCTGACCCTGGACTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation