Incidental Mutation 'R1200:Flot2'
| ID |
101309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flot2
|
| Ensembl Gene |
ENSMUSG00000061981 |
| Gene Name |
flotillin 2 |
| Synonyms |
Esa, reggie-2 |
| MMRRC Submission |
039270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R1200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77928757-77951260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77945631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 2
(T2M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072289]
[ENSMUST00000073660]
[ENSMUST00000100784]
[ENSMUST00000148162]
|
| AlphaFold |
Q60634 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072289
AA Change: T51M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981
AA Change: T51M
| 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
|
| SMART Domains |
Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
87 |
269 |
1.34e-10 |
SMART |
|
Pfam:Flot
|
311 |
422 |
5.1e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100784
AA Change: T2M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098347
Gene: ENSMUSG00000061981
AA Change: T2M
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
38 |
220 |
1.34e-10 |
SMART |
|
Blast:PHB
|
277 |
347 |
2e-35 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136353
|
| Predicted Effect |
silent
Transcript: ENSMUST00000148162
|
| SMART Domains |
Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,810 (GRCm39) |
I361F |
possibly damaging |
Het |
| Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,341,806 (GRCm39) |
V309L |
possibly damaging |
Het |
| Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
| Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
| Prdm1 |
A |
G |
10: 44,326,126 (GRCm39) |
Y148H |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,722,087 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,239 (GRCm39) |
H94Q |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,370,675 (GRCm39) |
E402G |
probably damaging |
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 |
|
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 |
|
|
R6865:Flot2
|
UTSW |
11 |
77,940,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- CGGTTCAAGCCAGGATGATGAACAG -3'
(R):5'- GGGCCAAGTGGTCATGTTCCAATG -3'
Sequencing Primer
(F):5'- TAGAGCCACCTGCTCCTAC -3'
(R):5'- GTTCCAATGATGATGATCCTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation