Incidental Mutation 'R0314:Fzd6'
| ID |
25386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd6
|
| Ensembl Gene |
ENSMUSG00000022297 |
| Gene Name |
frizzled class receptor 6 |
| Synonyms |
rst, Fz6 |
| MMRRC Submission |
038524-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0314 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
38869673-38901587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38889128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 82
(I82K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022906]
[ENSMUST00000179165]
|
| AlphaFold |
Q61089 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022906
AA Change: I82K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: I82K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FRI
|
23 |
134 |
9.66e-59 |
SMART |
|
Frizzled
|
188 |
513 |
4.88e-184 |
SMART |
|
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179165
AA Change: I82K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: I82K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FRI
|
23 |
134 |
9.66e-59 |
SMART |
|
Frizzled
|
188 |
513 |
4.88e-184 |
SMART |
|
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.7%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mice for one mutation display abnormal hair follicle orientation. Another mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih2 |
T |
C |
9: 108,485,878 (GRCm39) |
N345D |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,514,095 (GRCm39) |
S298L |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,317,997 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Car9 |
T |
C |
4: 43,509,212 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
T |
5: 86,185,230 (GRCm39) |
M427K |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,624,262 (GRCm39) |
C57S |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,397,342 (GRCm39) |
Y77C |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,919,865 (GRCm39) |
K1187E |
possibly damaging |
Het |
| Fkbpl |
C |
T |
17: 34,865,026 (GRCm39) |
H265Y |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,687,031 (GRCm39) |
E32A |
probably damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,496 (GRCm39) |
T715I |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,163 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,880,553 (GRCm39) |
Y115C |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,438 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
G |
9: 123,345,892 (GRCm39) |
I557S |
probably benign |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,343 (GRCm39) |
D3398E |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,176,736 (GRCm39) |
S1005P |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,519 (GRCm39) |
D11E |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,388 (GRCm39) |
D72G |
probably damaging |
Het |
| Pebp4 |
G |
T |
14: 70,297,103 (GRCm39) |
S214I |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,161,443 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,848,875 (GRCm39) |
Q230L |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,753,525 (GRCm39) |
T784M |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,303,995 (GRCm39) |
I270T |
probably benign |
Het |
| Spag4 |
C |
T |
2: 155,909,229 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,660,841 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,096,331 (GRCm39) |
E1430K |
possibly damaging |
Het |
| Timd5 |
G |
A |
11: 46,419,364 (GRCm39) |
C60Y |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,265,946 (GRCm39) |
V956E |
probably damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,043,991 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,997,431 (GRCm39) |
S1741P |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,980 (GRCm39) |
T109A |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,784,985 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,318,388 (GRCm39) |
|
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,094,076 (GRCm39) |
K195N |
probably damaging |
Het |
| Zfp683 |
A |
G |
4: 133,786,052 (GRCm39) |
Y393C |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,133,085 (GRCm39) |
S48P |
probably benign |
Het |
|
| Other mutations in Fzd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02470:Fzd6
|
APN |
15 |
38,899,952 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02500:Fzd6
|
APN |
15 |
38,894,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Fzd6
|
APN |
15 |
38,897,285 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03219:Fzd6
|
APN |
15 |
38,894,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Fzd6
|
UTSW |
15 |
38,894,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0478:Fzd6
|
UTSW |
15 |
38,897,429 (GRCm39) |
splice site |
probably null |
|
|
R0961:Fzd6
|
UTSW |
15 |
38,889,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Fzd6
|
UTSW |
15 |
38,894,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Fzd6
|
UTSW |
15 |
38,894,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Fzd6
|
UTSW |
15 |
38,895,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Fzd6
|
UTSW |
15 |
38,894,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Fzd6
|
UTSW |
15 |
38,897,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Fzd6
|
UTSW |
15 |
38,894,931 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5089:Fzd6
|
UTSW |
15 |
38,870,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Fzd6
|
UTSW |
15 |
38,894,559 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5666:Fzd6
|
UTSW |
15 |
38,894,510 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5670:Fzd6
|
UTSW |
15 |
38,894,510 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5903:Fzd6
|
UTSW |
15 |
38,870,783 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6221:Fzd6
|
UTSW |
15 |
38,894,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6944:Fzd6
|
UTSW |
15 |
38,889,212 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7731:Fzd6
|
UTSW |
15 |
38,897,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Fzd6
|
UTSW |
15 |
38,894,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Fzd6
|
UTSW |
15 |
38,894,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Fzd6
|
UTSW |
15 |
38,895,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Fzd6
|
UTSW |
15 |
38,895,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Fzd6
|
UTSW |
15 |
38,895,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Fzd6
|
UTSW |
15 |
38,898,289 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9276:Fzd6
|
UTSW |
15 |
38,870,962 (GRCm39) |
splice site |
probably benign |
|
|
R9350:Fzd6
|
UTSW |
15 |
38,895,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Fzd6
|
UTSW |
15 |
38,895,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Fzd6
|
UTSW |
15 |
38,895,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Fzd6
|
UTSW |
15 |
38,894,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fzd6
|
UTSW |
15 |
38,894,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fzd6
|
UTSW |
15 |
38,870,956 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATAGCTGCACAGGCATCCTCTAC -3'
(R):5'- TGAGTCGTAAGTTGACGCGCTAAC -3'
Sequencing Primer
(F):5'- ttaaattaaaggaagaaggacctctg -3'
(R):5'- GTAAGTTGACGCGCTAACAATAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation