Incidental Mutation 'R3859:Fzd3'
| ID |
276307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd3
|
| Ensembl Gene |
ENSMUSG00000007989 |
| Gene Name |
frizzled class receptor 3 |
| Synonyms |
D930050A07Rik, Fz3 |
| MMRRC Submission |
040787-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65429898-65499912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65477288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 89
(C89S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131309]
|
| AlphaFold |
Q61086 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131309
AA Change: C89S
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115325
Gene: ENSMUSG00000007989
AA Change: C89S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FRI
|
27 |
138 |
3.39e-63 |
SMART |
|
Frizzled
|
192 |
517 |
5.6e-184 |
SMART |
|
| Meta Mutation Damage Score |
0.9749 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
95% (36/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruption of this gene die within 30 minutes of birth. Breathing is irregular. Brain development is abnormal with occasion falure of the cephalic neural tube to close. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,090,218 (GRCm39) |
N305S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,281,462 (GRCm39) |
D35Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,857 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Dnajc5b |
G |
T |
3: 19,628,966 (GRCm39) |
G87* |
probably null |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,908,524 (GRCm39) |
Q2493* |
probably null |
Het |
| Fbl |
G |
A |
7: 27,873,935 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,012,930 (GRCm39) |
G88S |
probably damaging |
Het |
| Gnao1 |
C |
T |
8: 94,538,273 (GRCm39) |
|
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,495,616 (GRCm39) |
C304* |
probably null |
Het |
| Itih4 |
T |
C |
14: 30,614,286 (GRCm39) |
L412P |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,290 (GRCm39) |
L995P |
probably damaging |
Het |
| Krt12 |
G |
A |
11: 99,309,319 (GRCm39) |
L314F |
possibly damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,405 (GRCm39) |
M1T |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,313,096 (GRCm39) |
L349Q |
probably benign |
Het |
| Pcdha6 |
C |
T |
18: 37,102,984 (GRCm39) |
P6S |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,630 (GRCm39) |
E487G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,797,066 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
C |
T |
13: 27,742,147 (GRCm39) |
G238E |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,587 (GRCm39) |
F75S |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,990,286 (GRCm39) |
T719A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,646 (GRCm39) |
P391L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,976,558 (GRCm39) |
L1241P |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,193,245 (GRCm39) |
F402L |
possibly damaging |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,074,204 (GRCm39) |
F245V |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,487 (GRCm39) |
E123G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,790,923 (GRCm39) |
I373M |
possibly damaging |
Het |
|
| Other mutations in Fzd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01987:Fzd3
|
APN |
14 |
65,477,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Fzd3
|
APN |
14 |
65,490,555 (GRCm39) |
missense |
probably benign |
|
|
IGL02568:Fzd3
|
APN |
14 |
65,473,389 (GRCm39) |
splice site |
probably benign |
|
|
R1161:Fzd3
|
UTSW |
14 |
65,449,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Fzd3
|
UTSW |
14 |
65,473,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Fzd3
|
UTSW |
14 |
65,472,956 (GRCm39) |
missense |
probably benign |
|
|
R1636:Fzd3
|
UTSW |
14 |
65,490,555 (GRCm39) |
missense |
probably benign |
|
|
R1826:Fzd3
|
UTSW |
14 |
65,490,555 (GRCm39) |
missense |
probably benign |
|
|
R2071:Fzd3
|
UTSW |
14 |
65,473,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Fzd3
|
UTSW |
14 |
65,449,680 (GRCm39) |
splice site |
probably benign |
|
|
R3857:Fzd3
|
UTSW |
14 |
65,477,288 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3917:Fzd3
|
UTSW |
14 |
65,473,379 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4110:Fzd3
|
UTSW |
14 |
65,472,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4396:Fzd3
|
UTSW |
14 |
65,473,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Fzd3
|
UTSW |
14 |
65,473,193 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4796:Fzd3
|
UTSW |
14 |
65,472,607 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4838:Fzd3
|
UTSW |
14 |
65,477,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5916:Fzd3
|
UTSW |
14 |
65,440,178 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6240:Fzd3
|
UTSW |
14 |
65,447,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Fzd3
|
UTSW |
14 |
65,473,252 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6892:Fzd3
|
UTSW |
14 |
65,447,330 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7819:Fzd3
|
UTSW |
14 |
65,472,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Fzd3
|
UTSW |
14 |
65,440,262 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8974:Fzd3
|
UTSW |
14 |
65,472,440 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9128:Fzd3
|
UTSW |
14 |
65,449,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGCTAAAATGTTTTGAGC -3'
(R):5'- TGGATCTAACCAAAATAAGCCCTTG -3'
Sequencing Primer
(F):5'- GCAAACCAGTATTTGTATACACACTC -3'
(R):5'- ACCAAAATAAGCCCTTGAGAAATATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation