Incidental Mutation 'R6865:Flot2'
| ID |
535873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flot2
|
| Ensembl Gene |
ENSMUSG00000061981 |
| Gene Name |
flotillin 2 |
| Synonyms |
Esa, reggie-2 |
| MMRRC Submission |
045027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R6865 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77928757-77951260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77940318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072289]
[ENSMUST00000073660]
[ENSMUST00000100784]
[ENSMUST00000148162]
|
| AlphaFold |
Q60634 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072289
AA Change: S22P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981
AA Change: S22P
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
87 |
269 |
1.34e-10 |
SMART |
|
Pfam:Flot
|
311 |
422 |
6.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073660
AA Change: S22P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981
AA Change: S22P
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
87 |
269 |
1.34e-10 |
SMART |
|
Pfam:Flot
|
311 |
422 |
5.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100784
|
| SMART Domains |
Protein: ENSMUSP00000098347
Gene: ENSMUSG00000061981
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
38 |
220 |
1.34e-10 |
SMART |
|
Blast:PHB
|
277 |
347 |
2e-35 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148162
AA Change: S22P
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981
AA Change: S22P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PHB
|
2 |
74 |
2e-34 |
BLAST |
|
PDB:1WIN|A
|
40 |
74 |
2e-8 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced metastase into the lungs in a breast cancer model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
| Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
| Card10 |
G |
T |
15: 78,686,822 (GRCm39) |
D47E |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,075,354 (GRCm39) |
Y500* |
probably null |
Het |
| Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
| Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
| Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
| Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
| Foxc1 |
A |
G |
13: 31,992,836 (GRCm39) |
D549G |
unknown |
Het |
| Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
| Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
| Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
| Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
| Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
| Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
| Rab44 |
A |
T |
17: 29,358,201 (GRCm39) |
I130F |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
| Slco1c1 |
A |
T |
6: 141,485,778 (GRCm39) |
Y136F |
probably damaging |
Het |
| Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
| Uckl1 |
T |
C |
2: 181,216,286 (GRCm39) |
N138S |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
| Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
probably benign |
Het |
|
| Other mutations in Flot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Flot2
|
APN |
11 |
77,940,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Flot2
|
APN |
11 |
77,950,031 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
PIT4382001:Flot2
|
UTSW |
11 |
77,944,193 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0330:Flot2
|
UTSW |
11 |
77,949,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1200:Flot2
|
UTSW |
11 |
77,945,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Flot2
|
UTSW |
11 |
77,940,373 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1701:Flot2
|
UTSW |
11 |
77,940,373 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1735:Flot2
|
UTSW |
11 |
77,948,831 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1992:Flot2
|
UTSW |
11 |
77,949,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4812:Flot2
|
UTSW |
11 |
77,944,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4840:Flot2
|
UTSW |
11 |
77,948,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Flot2
|
UTSW |
11 |
77,949,888 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5396:Flot2
|
UTSW |
11 |
77,940,314 (GRCm39) |
nonsense |
probably null |
|
|
R7085:Flot2
|
UTSW |
11 |
77,948,900 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7262:Flot2
|
UTSW |
11 |
77,948,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7286:Flot2
|
UTSW |
11 |
77,945,612 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7350:Flot2
|
UTSW |
11 |
77,948,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Flot2
|
UTSW |
11 |
77,949,383 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7498:Flot2
|
UTSW |
11 |
77,944,188 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7701:Flot2
|
UTSW |
11 |
77,928,942 (GRCm39) |
splice site |
probably null |
|
|
R7755:Flot2
|
UTSW |
11 |
77,940,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7955:Flot2
|
UTSW |
11 |
77,949,769 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8273:Flot2
|
UTSW |
11 |
77,950,021 (GRCm39) |
missense |
probably benign |
|
|
R8961:Flot2
|
UTSW |
11 |
77,945,632 (GRCm39) |
intron |
probably benign |
|
|
R9021:Flot2
|
UTSW |
11 |
77,949,805 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9045:Flot2
|
UTSW |
11 |
77,950,023 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9329:Flot2
|
UTSW |
11 |
77,949,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTACATAGTAAGCCCTAGATTC -3'
(R):5'- GGAGATGCTCAATCTGGCTATG -3'
Sequencing Primer
(F):5'- GCCTGATAACCTGAGTTAGATCC -3'
(R):5'- CTCAATCTGGCTATGTGGTGAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation