Incidental Mutation 'IGL02015:Fzd5'
| ID |
183706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
64769717-64776907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64775501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 87
(C87S)
|
| 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: C87S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067783
Gene: ENSMUSG00000045005
AA Change: C87S
| 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: C87S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111828
Gene: ENSMUSG00000045005
AA Change: C87S
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9l |
C |
A |
9: 44,420,098 (GRCm39) |
|
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,047,201 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,060,749 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,399 (GRCm39) |
M118L |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,439 (GRCm39) |
V361A |
possibly damaging |
Het |
| Inpp4a |
T |
G |
1: 37,428,793 (GRCm39) |
F700V |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,753,782 (GRCm39) |
Q22L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,922 (GRCm39) |
Q369L |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,624,570 (GRCm39) |
Q2117* |
probably null |
Het |
| Naip2 |
A |
T |
13: 100,298,115 (GRCm39) |
S640R |
possibly damaging |
Het |
| Nt5e |
T |
C |
9: 88,249,290 (GRCm39) |
I408T |
probably damaging |
Het |
| Or10ab5 |
T |
A |
7: 108,245,220 (GRCm39) |
N188Y |
probably damaging |
Het |
| Or51h5 |
G |
A |
7: 102,577,399 (GRCm39) |
R188H |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,760,090 (GRCm39) |
S227P |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,433 (GRCm39) |
L590P |
probably damaging |
Het |
| Ppp1r35 |
T |
C |
5: 137,778,293 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Ptprg |
A |
T |
14: 12,237,782 (GRCm38) |
N1413I |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,506,622 (GRCm39) |
G233C |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,371 (GRCm39) |
|
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,734 (GRCm39) |
S108G |
unknown |
Het |
| Scn10a |
C |
T |
9: 119,494,017 (GRCm39) |
V430M |
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,325 (GRCm39) |
R63* |
probably null |
Het |
| Slc35b4 |
A |
T |
6: 34,147,483 (GRCm39) |
V35D |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,692,833 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Susd1 |
G |
A |
4: 59,315,745 (GRCm39) |
T689I |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,989,740 (GRCm39) |
D484G |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,268,721 (GRCm39) |
|
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,174 (GRCm39) |
N242S |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,072 (GRCm39) |
Y790H |
probably damaging |
Het |
| Xiap |
T |
A |
X: 41,185,487 (GRCm39) |
|
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 |
|
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 |
|
R2373:Fzd5
|
UTSW |
1 |
64,774,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation