Incidental Mutation 'R2892:Fzd8'
| ID |
260145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd8
|
| Ensembl Gene |
ENSMUSG00000036904 |
| Gene Name |
frizzled class receptor 8 |
| Synonyms |
Fz8, mFZ8 |
| MMRRC Submission |
040480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
9212856-9216201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 9214514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 532
(G532V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041080]
|
| AlphaFold |
Q61091 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MOUSE FRIZZLED 8 (MFZ8) [X-RAY DIFFRACTION]
Crystal structure of XWnt8 in complex with the cysteine-rich domain of Frizzled 8 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041080
AA Change: G532V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: G532V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
FRI
|
34 |
153 |
9.06e-73 |
SMART |
|
low complexity region
|
161 |
228 |
N/A |
INTRINSIC |
|
Frizzled
|
264 |
621 |
1.47e-219 |
SMART |
|
low complexity region
|
624 |
655 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,751,661 (GRCm39) |
D232G |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,668,473 (GRCm39) |
V379A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,182 (GRCm39) |
D55G |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
| Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
| Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,809 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Zfp82 |
G |
A |
7: 29,755,864 (GRCm39) |
T406I |
probably damaging |
Het |
|
| Other mutations in Fzd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Fzd8
|
APN |
18 |
9,213,068 (GRCm39) |
missense |
unknown |
|
|
IGL01511:Fzd8
|
APN |
18 |
9,213,293 (GRCm39) |
missense |
unknown |
|
|
IGL03129:Fzd8
|
APN |
18 |
9,214,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stilt
|
UTSW |
18 |
9,213,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Fzd8
|
UTSW |
18 |
9,213,985 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0715:Fzd8
|
UTSW |
18 |
9,212,947 (GRCm39) |
missense |
unknown |
|
|
R0966:Fzd8
|
UTSW |
18 |
9,214,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1717:Fzd8
|
UTSW |
18 |
9,214,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Fzd8
|
UTSW |
18 |
9,213,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1761:Fzd8
|
UTSW |
18 |
9,213,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1905:Fzd8
|
UTSW |
18 |
9,213,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Fzd8
|
UTSW |
18 |
9,214,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3897:Fzd8
|
UTSW |
18 |
9,214,939 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3968:Fzd8
|
UTSW |
18 |
9,214,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Fzd8
|
UTSW |
18 |
9,214,492 (GRCm39) |
frame shift |
probably null |
|
|
R5366:Fzd8
|
UTSW |
18 |
9,213,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Fzd8
|
UTSW |
18 |
9,213,268 (GRCm39) |
missense |
unknown |
|
|
R6261:Fzd8
|
UTSW |
18 |
9,214,598 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6757:Fzd8
|
UTSW |
18 |
9,213,238 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6758:Fzd8
|
UTSW |
18 |
9,213,238 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6899:Fzd8
|
UTSW |
18 |
9,214,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7242:Fzd8
|
UTSW |
18 |
9,214,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Fzd8
|
UTSW |
18 |
9,213,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Fzd8
|
UTSW |
18 |
9,214,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Fzd8
|
UTSW |
18 |
9,213,686 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8818:Fzd8
|
UTSW |
18 |
9,214,474 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8820:Fzd8
|
UTSW |
18 |
9,213,247 (GRCm39) |
missense |
unknown |
|
|
R8913:Fzd8
|
UTSW |
18 |
9,213,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Fzd8
|
UTSW |
18 |
9,214,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Fzd8
|
UTSW |
18 |
9,213,205 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGCAGTACTTCCACCTG -3'
(R):5'- ACTTGAGCATGAAGACCGC -3'
Sequencing Primer
(F):5'- ATCTGCTACGTGGGCAAC -3'
(R):5'- CTTGAGCATGAAGACCGCGTAATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation