Incidental Mutation 'R3857:Fzd3'
| ID |
276230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd3
|
| Ensembl Gene |
ENSMUSG00000007989 |
| Gene Name |
frizzled class receptor 3 |
| Synonyms |
D930050A07Rik, Fz3 |
| MMRRC Submission |
040785-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3857 (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: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably 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 |
|
|
R3859: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'- GATCTAACCAAAATAAGCCCTTGAG -3'
Sequencing Primer
(F):5'- GCAAACCAGTATTTGTATACACACTC -3'
(R):5'- ACCAAAATAAGCCCTTGAGAAATATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation