Incidental Mutation 'IGL01667:Fzd2'
| ID |
103329 |
| 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? |
Possibly essential
(E-score: 0.737)
|
| Stock # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102495257-102498884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102496608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 351
(V351L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057893]
|
| AlphaFold |
Q9JIP6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057893
AA Change: V351L
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091463
Gene: ENSMUSG00000050288
AA Change: V351L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
| Other mutations in Fzd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02034:Fzd2
|
APN |
11 |
102,495,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02035:Fzd2
|
APN |
11 |
102,497,270 (GRCm39) |
makesense |
probably null |
|
|
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 |
2014-01-21 |
Incidental Mutation