Incidental Mutation 'R4306:Fzd7'
| ID |
371096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd7
|
| Ensembl Gene |
ENSMUSG00000041075 |
| Gene Name |
frizzled class receptor 7 |
| Synonyms |
Fz7 |
| MMRRC Submission |
041092-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R4306 (G1)
|
| Quality Score |
40 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59521583-59526114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59523566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 483
(V483A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114246]
|
| AlphaFold |
Q61090 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114246
AA Change: V483A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: V483A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
FRI
|
48 |
165 |
6.21e-71 |
SMART |
|
Frizzled
|
241 |
565 |
1.64e-217 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180778
|
| Meta Mutation Damage Score |
0.7383 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a shorter tail with a distal kink with full penetrance as well as cardiac defects with low penetrance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Chst12 |
T |
C |
5: 140,510,401 (GRCm39) |
F343L |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,392,578 (GRCm39) |
|
probably benign |
Het |
| Cyp27b1 |
A |
G |
10: 126,886,957 (GRCm39) |
D391G |
probably benign |
Het |
| Dll3 |
T |
C |
7: 28,001,082 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,260,932 (GRCm39) |
I2030N |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,361,051 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,492,735 (GRCm39) |
H539R |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,265,685 (GRCm39) |
A844T |
probably benign |
Het |
| Myo1a |
T |
G |
10: 127,549,950 (GRCm39) |
S477A |
probably benign |
Het |
| Naga |
C |
T |
15: 82,221,095 (GRCm39) |
W67* |
probably null |
Het |
| Or51ah3 |
G |
C |
7: 103,210,380 (GRCm39) |
R232T |
possibly damaging |
Het |
| Or51ah3 |
A |
T |
7: 103,210,379 (GRCm39) |
R232* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 12,952,652 (GRCm39) |
E87G |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Rb1 |
G |
A |
14: 73,500,135 (GRCm39) |
T504I |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,460,125 (GRCm39) |
N1385K |
possibly damaging |
Het |
| Spaca7b |
T |
A |
8: 11,728,590 (GRCm39) |
N27I |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,853,198 (GRCm39) |
F465L |
probably benign |
Het |
| Usp31 |
G |
A |
7: 121,306,152 (GRCm39) |
P109S |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Zfp459 |
T |
C |
13: 67,561,307 (GRCm39) |
K47R |
probably damaging |
Het |
|
| Other mutations in Fzd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Fzd7
|
APN |
1 |
59,523,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Fzd7
|
APN |
1 |
59,523,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02647:Fzd7
|
APN |
1 |
59,523,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Fzd7
|
UTSW |
1 |
59,523,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0479:Fzd7
|
UTSW |
1 |
59,522,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Fzd7
|
UTSW |
1 |
59,522,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Fzd7
|
UTSW |
1 |
59,523,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Fzd7
|
UTSW |
1 |
59,522,165 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2056:Fzd7
|
UTSW |
1 |
59,523,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2566:Fzd7
|
UTSW |
1 |
59,523,695 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2890:Fzd7
|
UTSW |
1 |
59,523,593 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4078:Fzd7
|
UTSW |
1 |
59,522,948 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4744:Fzd7
|
UTSW |
1 |
59,523,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5249:Fzd7
|
UTSW |
1 |
59,522,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Fzd7
|
UTSW |
1 |
59,522,839 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5997:Fzd7
|
UTSW |
1 |
59,523,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6136:Fzd7
|
UTSW |
1 |
59,522,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Fzd7
|
UTSW |
1 |
59,523,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Fzd7
|
UTSW |
1 |
59,523,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Fzd7
|
UTSW |
1 |
59,522,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7753:Fzd7
|
UTSW |
1 |
59,522,641 (GRCm39) |
missense |
probably benign |
|
|
R8322:Fzd7
|
UTSW |
1 |
59,522,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9066:Fzd7
|
UTSW |
1 |
59,521,991 (GRCm39) |
start gained |
probably benign |
|
|
R9188:Fzd7
|
UTSW |
1 |
59,523,797 (GRCm39) |
missense |
probably benign |
|
|
R9255:Fzd7
|
UTSW |
1 |
59,522,495 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9326:Fzd7
|
UTSW |
1 |
59,522,837 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9458:Fzd7
|
UTSW |
1 |
59,523,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fzd7
|
UTSW |
1 |
59,523,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATGGTGACCTACTCAGTGG -3'
(R):5'- CCACGATCATGGTCATCAGG -3'
Sequencing Primer
(F):5'- GCTACGTGGGCCTGTCTAG -3'
(R):5'- CACGATCATGGTCATCAGGTACTTG -3'
|
| Posted On |
2016-02-17 |
Incidental Mutation