Incidental Mutation 'R5526:Fzd6'
| ID |
431877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd6
|
| Ensembl Gene |
ENSMUSG00000022297 |
| Gene Name |
frizzled class receptor 6 |
| Synonyms |
rst, Fz6 |
| MMRRC Submission |
043084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
38869673-38901587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38894559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 242
(S242C)
|
| 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: S242C
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: S242C
| 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: S242C
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: S242C
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abca12 |
A |
T |
1: 71,331,605 (GRCm39) |
M1315K |
probably benign |
Het |
| Abcc4 |
C |
T |
14: 118,868,449 (GRCm39) |
V168I |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
A |
G |
15: 42,375,737 (GRCm39) |
L173P |
probably damaging |
Het |
| Crls1 |
T |
A |
2: 132,703,165 (GRCm39) |
M205K |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,504,427 (GRCm39) |
V1852A |
probably benign |
Het |
| Dhtkd1 |
A |
T |
2: 5,916,662 (GRCm39) |
N671K |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,642,920 (GRCm39) |
D246V |
probably damaging |
Het |
| Dolk |
G |
A |
2: 30,175,820 (GRCm39) |
A75V |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,779,287 (GRCm39) |
V623E |
probably damaging |
Het |
| Elavl3 |
T |
C |
9: 21,947,622 (GRCm39) |
T106A |
probably benign |
Het |
| Ergic1 |
T |
C |
17: 26,843,652 (GRCm39) |
C41R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,160,187 (GRCm39) |
I3309F |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,207,559 (GRCm39) |
R978L |
possibly damaging |
Het |
| Galntl6 |
T |
A |
8: 58,926,004 (GRCm39) |
H87L |
probably benign |
Het |
| Gatad2a |
T |
C |
8: 70,388,591 (GRCm39) |
E32G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm11541 |
G |
T |
11: 94,594,944 (GRCm39) |
H41Q |
unknown |
Het |
| Has3 |
A |
G |
8: 107,600,579 (GRCm39) |
T14A |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,869 (GRCm39) |
L1377P |
probably damaging |
Het |
| Lcorl |
T |
C |
5: 45,891,069 (GRCm39) |
N428S |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,445,284 (GRCm39) |
V95D |
unknown |
Het |
| Lrp1 |
A |
T |
10: 127,391,593 (GRCm39) |
V2942D |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,143 (GRCm39) |
S2082P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,723 (GRCm39) |
S852G |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,316,147 (GRCm39) |
L13* |
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,081,791 (GRCm39) |
N645I |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,778,003 (GRCm39) |
L302Q |
unknown |
Het |
| Or12e7 |
T |
C |
2: 87,288,109 (GRCm39) |
I200T |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,235,383 (GRCm39) |
*309K |
probably null |
Het |
| Or7e166 |
C |
A |
9: 19,624,994 (GRCm39) |
Y290* |
probably null |
Het |
| Or8g52 |
A |
T |
9: 39,630,892 (GRCm39) |
Y123F |
possibly damaging |
Het |
| Pex12 |
A |
G |
11: 83,187,090 (GRCm39) |
V286A |
possibly damaging |
Het |
| Phax |
C |
T |
18: 56,717,382 (GRCm39) |
T275I |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,676,006 (GRCm39) |
V335A |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,273 (GRCm39) |
L173H |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,834 (GRCm39) |
T209A |
possibly damaging |
Het |
| Ralgapb |
T |
C |
2: 158,274,705 (GRCm39) |
V202A |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,165,187 (GRCm39) |
L611P |
probably damaging |
Het |
| Runx2 |
T |
G |
17: 45,035,749 (GRCm39) |
T148P |
probably damaging |
Het |
| Sbpl |
C |
A |
17: 24,173,623 (GRCm39) |
D50Y |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,350,237 (GRCm39) |
P879L |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,915 (GRCm39) |
R56G |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,125 (GRCm39) |
V486A |
possibly damaging |
Het |
| Tas2r138 |
C |
T |
6: 40,589,914 (GRCm39) |
A111T |
probably benign |
Het |
| Tasp1 |
A |
T |
2: 139,850,709 (GRCm39) |
S105T |
probably damaging |
Het |
| Tmem225 |
T |
G |
9: 40,062,002 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Tmprss7 |
A |
G |
16: 45,481,267 (GRCm39) |
S640P |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,644,265 (GRCm39) |
A535T |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,273 (GRCm39) |
D18V |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,522,069 (GRCm39) |
L9P |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,984 (GRCm39) |
C420* |
probably null |
Het |
| Zfp804a |
A |
G |
2: 82,088,934 (GRCm39) |
D921G |
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 |
|
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'- AATTGAACAGTGTGCCCCTCC -3'
(R):5'- GCAGCTAAGAACCACGTAATG -3'
Sequencing Primer
(F):5'- CCGTGCCCCAATATGTATTTTAAAAG -3'
(R):5'- GTGAGAATCACCCACCACACG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation