Incidental Mutation 'IGL02035:Fzd2'
| ID |
184488 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzd2
|
| Ensembl Gene |
ENSMUSG00000050288 |
| Gene Name |
frizzled class receptor 2 |
| Synonyms |
Fz10, Mfz10a, Mfz10 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
IGL02035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102495257-102498884 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 102497270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 571
(*571W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057893]
|
| AlphaFold |
Q9JIP6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057893
AA Change: *571W
|
| SMART Domains |
Protein: ENSMUSP00000091463
Gene: ENSMUSG00000050288
AA Change: *571W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
FRI
|
43 |
160 |
7.47e-74 |
SMART |
|
low complexity region
|
176 |
195 |
N/A |
INTRINSIC |
|
Frizzled
|
239 |
563 |
3.32e-218 |
SMART |
|
| Coding Region Coverage |
|
| 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. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
PHENOTYPE: About 50% of mice homozygous for a reporter allele display a cleft palate and die as neonates; the remaining 50% survive exhibiting a variable degree of postnatal runting and reduced olfactory sensitivity to various odorants. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
| Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
| Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
| Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
| Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
| Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
| Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
| Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
| Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
| Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fzd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01667:Fzd2
|
APN |
11 |
102,496,608 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02034:Fzd2
|
APN |
11 |
102,495,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
frowzy
|
UTSW |
11 |
102,495,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Fzd2
|
UTSW |
11 |
102,496,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0201:Fzd2
|
UTSW |
11 |
102,496,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Fzd2
|
UTSW |
11 |
102,496,206 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1146:Fzd2
|
UTSW |
11 |
102,496,206 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1530:Fzd2
|
UTSW |
11 |
102,496,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Fzd2
|
UTSW |
11 |
102,497,154 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1676:Fzd2
|
UTSW |
11 |
102,496,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Fzd2
|
UTSW |
11 |
102,496,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Fzd2
|
UTSW |
11 |
102,496,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2410:Fzd2
|
UTSW |
11 |
102,496,453 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5058:Fzd2
|
UTSW |
11 |
102,495,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5296:Fzd2
|
UTSW |
11 |
102,496,981 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5580:Fzd2
|
UTSW |
11 |
102,496,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5788:Fzd2
|
UTSW |
11 |
102,496,293 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6104:Fzd2
|
UTSW |
11 |
102,497,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Fzd2
|
UTSW |
11 |
102,495,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Fzd2
|
UTSW |
11 |
102,495,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Fzd2
|
UTSW |
11 |
102,496,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9129:Fzd2
|
UTSW |
11 |
102,496,465 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9246:Fzd2
|
UTSW |
11 |
102,496,749 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9631:Fzd2
|
UTSW |
11 |
102,496,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation