Incidental Mutation 'R2410:Fzd2'
ID |
249957 |
Institutional Source |
Beutler Lab
|
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 # |
R2410 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
102495257-102498884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102496453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 299
(Y299C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057893]
|
AlphaFold |
Q9JIP6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057893
AA Change: Y299C
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000091463 Gene: ENSMUSG00000050288 AA Change: Y299C
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
Ero1a |
C |
T |
14: 45,542,723 (GRCm39) |
V101I |
possibly damaging |
Het |
Fbxl7 |
A |
G |
15: 26,895,111 (GRCm39) |
Y9H |
possibly damaging |
Het |
Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
Mlxip |
T |
A |
5: 123,581,132 (GRCm39) |
W260R |
probably damaging |
Het |
Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
Pi4k2a |
A |
G |
19: 42,093,316 (GRCm39) |
E219G |
possibly damaging |
Het |
Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
Tmem255b |
A |
G |
8: 13,491,278 (GRCm39) |
I66V |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCTATGTTCTTCTCGCAAG -3'
(R):5'- ACTGCGAATTGGCCTCGATG -3'
Sequencing Primer
(F):5'- TCACGGTCACCACCTATT -3'
(R):5'- TCATTCCGGCTGCCAGGAAC -3'
|
Posted On |
2014-11-12 |