Incidental Mutation 'R5089:Fzd6'
| ID |
387656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd6
|
| Ensembl Gene |
ENSMUSG00000022297 |
| Gene Name |
frizzled class receptor 6 |
| Synonyms |
rst, Fz6 |
| MMRRC Submission |
042678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
38869673-38901587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38870875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 32
(C32S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022906]
[ENSMUST00000179165]
[ENSMUST00000228491]
[ENSMUST00000228922]
|
| AlphaFold |
Q61089 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022906
AA Change: C32S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: C32S
| 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: C32S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: C32S
| 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 |
noncoding transcript
Transcript: ENSMUST00000181362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227606
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228491
AA Change: C32S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228922
AA Change: C32S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.9750 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
98% (65/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,698,672 (GRCm39) |
N145S |
possibly damaging |
Het |
| Acp2 |
T |
C |
2: 91,042,267 (GRCm39) |
|
probably benign |
Het |
| Adgrf2 |
G |
A |
17: 43,020,988 (GRCm39) |
A612V |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,651 (GRCm39) |
D2676E |
probably benign |
Het |
| Cct3 |
T |
G |
3: 88,208,150 (GRCm39) |
M46R |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,809,811 (GRCm39) |
D200G |
probably benign |
Het |
| Cdh9 |
T |
A |
15: 16,778,362 (GRCm39) |
F59Y |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,551,198 (GRCm39) |
E349G |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,758,679 (GRCm39) |
H381R |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,681,519 (GRCm39) |
D991G |
probably damaging |
Het |
| Dhx16 |
A |
T |
17: 36,194,981 (GRCm39) |
M503L |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 63,007,248 (GRCm39) |
T650A |
probably benign |
Het |
| Etfa |
T |
A |
9: 55,396,150 (GRCm39) |
K139* |
probably null |
Het |
| Flnc |
T |
C |
6: 29,447,812 (GRCm39) |
I1205T |
probably damaging |
Het |
| Gm1110 |
T |
A |
9: 26,793,683 (GRCm39) |
D515V |
probably damaging |
Het |
| Gm7676 |
T |
C |
8: 13,946,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr157 |
T |
C |
4: 150,186,750 (GRCm39) |
S293P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,914,902 (GRCm39) |
D810G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,942 (GRCm39) |
H1184R |
probably benign |
Het |
| Hoxc5 |
A |
T |
15: 102,922,487 (GRCm39) |
|
probably benign |
Het |
| Iah1 |
C |
T |
12: 21,373,309 (GRCm39) |
S196L |
possibly damaging |
Het |
| Il5 |
C |
T |
11: 53,612,655 (GRCm39) |
T55I |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,170,869 (GRCm39) |
K169E |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,693 (GRCm39) |
T492K |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,328 (GRCm39) |
D203G |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,606,071 (GRCm39) |
V241M |
probably damaging |
Het |
| Mpeg1 |
G |
A |
19: 12,440,361 (GRCm39) |
M606I |
probably benign |
Het |
| Ms4a1 |
G |
A |
19: 11,236,176 (GRCm39) |
P4S |
probably benign |
Het |
| Nat10 |
A |
T |
2: 103,587,488 (GRCm39) |
|
probably benign |
Het |
| Ncaph2 |
T |
A |
15: 89,240,148 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
A |
8: 108,078,070 (GRCm39) |
V403D |
probably damaging |
Het |
| Or2y10 |
T |
A |
11: 49,455,240 (GRCm39) |
M164K |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,516 (GRCm39) |
F10S |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,557,576 (GRCm39) |
H65R |
probably damaging |
Het |
| Phf20 |
C |
A |
2: 156,144,782 (GRCm39) |
H797N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,283 (GRCm39) |
S4015T |
probably benign |
Het |
| Prdm5 |
C |
T |
6: 65,833,074 (GRCm39) |
H148Y |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,054 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,129,625 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
G |
A |
13: 33,162,133 (GRCm39) |
E192K |
probably benign |
Het |
| Shfl |
A |
T |
9: 20,780,212 (GRCm39) |
M1L |
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,205 (GRCm39) |
S216P |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,296,364 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
T |
C |
10: 75,751,013 (GRCm39) |
T74A |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,945,198 (GRCm39) |
Y107* |
probably null |
Het |
| Spmip5 |
A |
T |
19: 58,774,678 (GRCm39) |
L176H |
probably damaging |
Het |
| Stk25 |
T |
A |
1: 93,552,330 (GRCm39) |
K350M |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,355,444 (GRCm39) |
W379* |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,960,437 (GRCm39) |
E126V |
probably benign |
Het |
| Tbc1d12 |
T |
A |
19: 38,905,232 (GRCm39) |
L649* |
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,744,120 (GRCm39) |
G238R |
probably damaging |
Het |
| Yy1 |
C |
A |
12: 108,759,663 (GRCm39) |
Q109K |
probably damaging |
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 |
|
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'- CAGCAGTTGCCCCAGAATTC -3'
(R):5'- TTAACTAACCGTCCAACTGTAGAC -3'
Sequencing Primer
(F):5'- AGTTGCCCCAGAATTCATTTTCAGG -3'
(R):5'- GTCCAACTGTAGACAAAATATGACAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation