Incidental Mutation 'R9196:Fzd6'
| ID |
697960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd6
|
| Ensembl Gene |
ENSMUSG00000022297 |
| Gene Name |
frizzled class receptor 6 |
| Synonyms |
rst, Fz6 |
| MMRRC Submission |
068955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
38869673-38901587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38895102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 423
(L423M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022906]
[ENSMUST00000179165]
|
| AlphaFold |
Q61089 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022906
AA Change: L423M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: L423M
| 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 |
probably damaging
Transcript: ENSMUST00000179165
AA Change: L423M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: L423M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
92% (35/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,605,644 (GRCm39) |
L176P |
probably benign |
Het |
| Abtb2 |
A |
T |
2: 103,513,647 (GRCm39) |
H352L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,755,995 (GRCm39) |
V651A |
possibly damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,485,134 (GRCm39) |
L519Q |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpn |
G |
A |
8: 117,658,344 (GRCm39) |
D97N |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,873,753 (GRCm39) |
C576R |
probably benign |
Het |
| Col8a1 |
A |
T |
16: 57,447,730 (GRCm39) |
D593E |
unknown |
Het |
| Dsel |
C |
T |
1: 111,787,863 (GRCm39) |
E891K |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,150,689 (GRCm39) |
Y255H |
probably benign |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hepacam |
A |
T |
9: 37,279,052 (GRCm39) |
Q27L |
probably benign |
Het |
| Hibadh |
C |
T |
6: 52,525,865 (GRCm39) |
V262I |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,771,962 (GRCm39) |
D227V |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,833,778 (GRCm39) |
L106P |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Jmy |
T |
A |
13: 93,601,209 (GRCm39) |
D399V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,371,855 (GRCm39) |
I332N |
probably benign |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,805,716 (GRCm39) |
I1699N |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,455,316 (GRCm39) |
Q439R |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,621,003 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Reln |
A |
C |
5: 22,357,471 (GRCm39) |
S198R |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,068,877 (GRCm39) |
S41G |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,872 (GRCm39) |
S213G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,078,613 (GRCm39) |
I1593V |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,563,699 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 44,988,464 (GRCm39) |
F717L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
Het |
| Zfp764l1 |
T |
C |
7: 126,990,761 (GRCm39) |
T409A |
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 |
|
R0314:Fzd6
|
UTSW |
15 |
38,889,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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'- AGACAACATTAGCGGCGTTTG -3'
(R):5'- AGTGCACTTCTAGGAACATGAAGG -3'
Sequencing Primer
(F):5'- TGTATGACCTGGACGCCTC -3'
(R):5'- CATGAAGGTAAAGAGTGGCATATTCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation