Incidental Mutation 'R2373:Fzd5'
| ID |
248188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd5
|
| Ensembl Gene |
ENSMUSG00000045005 |
| Gene Name |
frizzled class receptor 5 |
| Synonyms |
Fz5, 5330434N09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2373 (G1)
|
| Quality Score |
169 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
64769717-64776907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64774066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 565
(G565D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063982]
[ENSMUST00000116133]
|
| AlphaFold |
Q9EQD0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063982
AA Change: G565D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067783
Gene: ENSMUSG00000045005
AA Change: G565D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
FRI
|
32 |
152 |
1.28e-72 |
SMART |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
Frizzled
|
225 |
540 |
2.48e-217 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116133
AA Change: G565D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111828
Gene: ENSMUSG00000045005
AA Change: G565D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
FRI
|
32 |
152 |
1.28e-72 |
SMART |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
Frizzled
|
225 |
540 |
2.48e-217 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194323
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos. Extra embryonic vascular development is abnormal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
| 9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
| Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
| Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
| Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
| Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
| Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
Het |
|
| Other mutations in Fzd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Fzd5
|
APN |
1 |
64,775,105 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02015:Fzd5
|
APN |
1 |
64,775,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02673:Fzd5
|
APN |
1 |
64,774,265 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0060:Fzd5
|
UTSW |
1 |
64,774,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1860:Fzd5
|
UTSW |
1 |
64,774,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Fzd5
|
UTSW |
1 |
64,774,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3114:Fzd5
|
UTSW |
1 |
64,774,739 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3725:Fzd5
|
UTSW |
1 |
64,775,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Fzd5
|
UTSW |
1 |
64,775,171 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5154:Fzd5
|
UTSW |
1 |
64,775,131 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5441:Fzd5
|
UTSW |
1 |
64,774,576 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6122:Fzd5
|
UTSW |
1 |
64,774,815 (GRCm39) |
nonsense |
probably null |
|
|
R6748:Fzd5
|
UTSW |
1 |
64,774,723 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7322:Fzd5
|
UTSW |
1 |
64,774,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Fzd5
|
UTSW |
1 |
64,775,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7543:Fzd5
|
UTSW |
1 |
64,774,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8163:Fzd5
|
UTSW |
1 |
64,774,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Fzd5
|
UTSW |
1 |
64,775,110 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAATCTCTTGAAACCGCCCC -3'
(R):5'- AAGTACTTCATGTGCCTGGTGG -3'
Sequencing Primer
(F):5'- TCCAAGCCACTCTGGGAG -3'
(R):5'- TGGTGGGCATCACGTCG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation