Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Flot2'

380920

Institutional Source

Beutler Lab

Gene Symbol

Flot2

Ensembl Gene

ENSMUSG00000061981

Gene Name

flotillin 2

Synonyms

Esa, reggie-2

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77928757-77951260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77949888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 406 (V406M)

Ref Sequence

ENSEMBL: ENSMUSP00000072136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072289] [ENSMUST00000073660] [ENSMUST00000100784] [ENSMUST00000148162]

AlphaFold

Q60634

PDB Structure

Solution Structure of the Band 7 Domain of the mouse Flotillin 2 Protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072289
AA Change: V406M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981
AA Change: V406M

Domain	Start	End	E-Value	Type
PHB	87	269	1.34e-10	SMART
Pfam:Flot	311	422	6.3e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073660
AA Change: V406M

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981
AA Change: V406M

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
AA Change: V357M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000098347
Gene: ENSMUSG00000061981
AA Change: V357M

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

probably benign
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

Meta Mutation Damage Score

0.3840

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	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
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
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'- AAAACCCTCAGCAGGTAGGC -3'
(R):5'- TGACGTTAAAACAGGCGCTG -3'

Sequencing Primer
(F):5'- CTCAGCAGGTAGGCAGGATC -3'
(R):5'- TGAGTGTGCAGGAGCCTCAC -3'

Posted On

2016-04-15