Incidental Mutation 'R5740:Fzd7'
| ID |
444731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd7
|
| Ensembl Gene |
ENSMUSG00000041075 |
| Gene Name |
frizzled class receptor 7 |
| Synonyms |
Fz7 |
| MMRRC Submission |
043196-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
R5740 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59521583-59526114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59522839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 241
(M241V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114246]
|
| AlphaFold |
Q61090 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114246
AA Change: M241V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: M241V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,413 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
A |
17: 56,604,838 (GRCm39) |
N150Y |
probably benign |
Het |
| Bag1 |
T |
C |
4: 40,941,526 (GRCm39) |
Q269R |
probably null |
Het |
| C7 |
T |
C |
15: 5,086,522 (GRCm39) |
N40D |
probably benign |
Het |
| Ccnt1 |
T |
C |
15: 98,442,381 (GRCm39) |
I296V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,178 (GRCm39) |
T509A |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,918,832 (GRCm39) |
T282S |
probably benign |
Het |
| Gja1 |
G |
A |
10: 56,264,285 (GRCm39) |
V215M |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,362 (GRCm39) |
L2567P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 48,989,573 (GRCm39) |
N819D |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,719,863 (GRCm39) |
R3H |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,926,762 (GRCm39) |
Y1079C |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,220 (GRCm39) |
E512G |
possibly damaging |
Het |
| Ino80 |
T |
C |
2: 119,261,510 (GRCm39) |
D718G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,239,824 (GRCm39) |
K73E |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,235,649 (GRCm39) |
I918V |
probably damaging |
Het |
| M1ap |
T |
C |
6: 82,958,903 (GRCm39) |
V178A |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,374 (GRCm39) |
M167K |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,182 (GRCm39) |
K465N |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,569,009 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Npepps |
A |
T |
11: 97,126,894 (GRCm39) |
D455E |
possibly damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,926 (GRCm39) |
M256V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,144,033 (GRCm39) |
G128S |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,551,664 (GRCm39) |
I489N |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,658,716 (GRCm39) |
T134A |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,399 (GRCm39) |
E596G |
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,164 (GRCm39) |
S1619P |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,816,643 (GRCm39) |
C387* |
probably null |
Het |
| Slc5a5 |
G |
T |
8: 71,341,561 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,721,718 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,091,450 (GRCm39) |
D212G |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,176 (GRCm39) |
I160N |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,900,103 (GRCm39) |
M600I |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,654 (GRCm39) |
I387V |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,581 (GRCm39) |
R575G |
probably benign |
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 |
|
R4306:Fzd7
|
UTSW |
1 |
59,523,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACAAGTTCGGCTTCCAGTG -3'
(R):5'- ATGAAGTAGCAACCCGACAG -3'
Sequencing Primer
(F):5'- TTGCGCTGCGAGAACTTC -3'
(R):5'- CAGGAAGATGATGGGTCGCTCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation