Incidental Mutation 'R3968:Fzd8'
ID |
312462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fzd8
|
Ensembl Gene |
ENSMUSG00000036904 |
Gene Name |
frizzled class receptor 8 |
Synonyms |
Fz8, mFZ8 |
MMRRC Submission |
040936-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3968 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
9212856-9216201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9214070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 384
(V384A)
|
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: V384A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039660 Gene: ENSMUSG00000036904 AA Change: V384A
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 |
|
Meta Mutation Damage Score |
0.3207 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
Cela1 |
C |
T |
15: 100,582,534 (GRCm39) |
G93S |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cysltr2 |
A |
G |
14: 73,267,614 (GRCm39) |
I32T |
probably damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
H2-M2 |
C |
T |
17: 37,792,197 (GRCm39) |
G318S |
possibly damaging |
Het |
Il21r |
G |
T |
7: 125,227,215 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
C |
7: 127,712,205 (GRCm39) |
Y697H |
probably damaging |
Het |
Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Net1 |
A |
G |
13: 3,957,795 (GRCm39) |
|
probably null |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Oard1 |
T |
C |
17: 48,722,282 (GRCm39) |
Y93H |
probably damaging |
Het |
Or4n5 |
A |
T |
14: 50,132,983 (GRCm39) |
I92N |
probably damaging |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,778,867 (GRCm39) |
L1825P |
probably damaging |
Het |
Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,742,382 (GRCm39) |
D1058E |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
T |
C |
10: 76,877,680 (GRCm39) |
Y72H |
probably damaging |
Het |
Sntb2 |
T |
A |
8: 107,723,772 (GRCm39) |
Y340* |
probably null |
Het |
Srrm4 |
A |
G |
5: 116,582,803 (GRCm39) |
|
probably benign |
Het |
Ssb |
C |
T |
2: 69,697,793 (GRCm39) |
|
probably benign |
Het |
Sval2 |
T |
A |
6: 41,838,861 (GRCm39) |
V14E |
probably damaging |
Het |
Tmc2 |
T |
G |
2: 130,043,991 (GRCm39) |
V75G |
probably benign |
Het |
Tnnc2 |
T |
C |
2: 164,619,457 (GRCm39) |
E129G |
possibly damaging |
Het |
Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
Yap1 |
C |
T |
9: 7,973,877 (GRCm39) |
R188Q |
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 |
R2892:Fzd8
|
UTSW |
18 |
9,214,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R3897:Fzd8
|
UTSW |
18 |
9,214,939 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- GAACGGCCCATCATATTCCTC -3'
(R):5'- AAGCCGCGTAGGTTGTCAAG -3'
Sequencing Primer
(F):5'- ACCTCTTCGTGTCTGTCGGG -3'
(R):5'- TTGCCCACGTAGCAGATG -3'
|
Posted On |
2015-04-29 |