Mutagenetix > Incidental Mutation

Incidental Mutation 'R7755:Flot2'

597512

Institutional Source

Beutler Lab

Gene Symbol

Flot2

Ensembl Gene

ENSMUSG00000061981

Gene Name

flotillin 2

Synonyms

Esa, reggie-2

MMRRC Submission

045811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7755 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77928757-77951260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77940339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 29 (F29L)

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 benign
Transcript: ENSMUST00000072289
AA Change: F29L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981
AA Change: F29L

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: F29L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981
AA Change: F29L

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: F29L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981
AA Change: F29L

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

0.0575

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,236,187 (GRCm39)	M1179I	probably benign	Het
4930402F06Rik	T	C	2: 35,266,349 (GRCm39)	Y107C	probably damaging	Het
Aff4	T	C	11: 53,289,206 (GRCm39)	S452P	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Begain	A	G	12: 109,018,802 (GRCm39)	L215P	probably benign	Het
Carf	T	A	1: 60,187,214 (GRCm39)	S606T	probably benign	Het
Cngb3	A	T	4: 19,461,684 (GRCm39)	T522S	probably benign	Het
Ctsll3	A	T	13: 60,948,219 (GRCm39)	F153I	probably damaging	Het
Cubn	G	A	2: 13,284,889 (GRCm39)	T3509I	probably benign	Het
Dmrta1	T	C	4: 89,580,170 (GRCm39)	S377P	probably benign	Het
Dnmbp	G	A	19: 43,838,525 (GRCm39)	A659V	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Dync2h1	T	C	9: 7,015,490 (GRCm39)	D3598G	probably benign	Het
Elp1	T	C	4: 56,774,552 (GRCm39)	N779S	possibly damaging	Het
Hectd1	A	T	12: 51,849,003 (GRCm39)	I367K	possibly damaging	Het
Ivl	T	A	3: 92,479,317 (GRCm39)	K249N	probably damaging	Het
Khnyn	A	G	14: 56,125,425 (GRCm39)	T503A	probably damaging	Het
Mbd4	T	A	6: 115,821,546 (GRCm39)	I490F	probably damaging	Het
Mlip	T	C	9: 77,136,838 (GRCm39)	T690A	probably benign	Het
Mmp1a	T	A	9: 7,467,005 (GRCm39)	D227E	possibly damaging	Het
Mrgprf	T	C	7: 144,862,380 (GRCm39)	L314P	probably damaging	Het
Ndufb9	T	G	15: 58,808,255 (GRCm39)	Y80*	probably null	Het
Neto2	C	T	8: 86,396,285 (GRCm39)	R155H	probably damaging	Het
Npat	T	A	9: 53,470,470 (GRCm39)	N365K	possibly damaging	Het
Nsl1	G	A	1: 190,795,380 (GRCm39)	V49M	probably benign	Het
Nudt21	T	A	8: 94,749,493 (GRCm39)	Y191F	probably benign	Het
Or2w25	A	G	11: 59,504,467 (GRCm39)	R226G	probably damaging	Het
Or8b54	T	G	9: 38,687,073 (GRCm39)	I174S	possibly damaging	Het
Pcdh18	T	C	3: 49,709,278 (GRCm39)	Y679C	possibly damaging	Het
Pkd1l3	A	G	8: 110,356,798 (GRCm39)	D741G	possibly damaging	Het
Pkhd1	T	C	1: 20,617,717 (GRCm39)	D956G	probably damaging	Het
Poglut2	T	C	1: 44,157,733 (GRCm39)		probably benign	Het
Pparg	C	T	6: 115,440,067 (GRCm39)	P214S	probably damaging	Het
Ppargc1a	T	A	5: 51,630,883 (GRCm39)	Y582F	unknown	Het
Prdm9	C	T	17: 15,765,226 (GRCm39)	C518Y	probably damaging	Het
Rangrf	T	A	11: 68,864,540 (GRCm39)	E2V	probably damaging	Het
Rpl19	T	C	11: 97,919,193 (GRCm39)	I45T	probably benign	Het
Rtn4rl2	T	C	2: 84,702,807 (GRCm39)	D255G	possibly damaging	Het
Shld2	T	C	14: 33,970,847 (GRCm39)	K627E	probably damaging	Het
Sirt3	T	C	7: 140,457,963 (GRCm39)	D62G		Het
Slc22a30	T	C	19: 8,314,133 (GRCm39)	T518A	probably damaging	Het
Slc40a1	T	C	1: 45,950,466 (GRCm39)	T329A	probably damaging	Het
Slc6a17	C	T	3: 107,381,671 (GRCm39)	G470D	probably damaging	Het
Syne2	A	T	12: 76,044,181 (GRCm39)	I3923L	probably benign	Het
Tiam2	C	T	17: 3,471,591 (GRCm39)	S411L	probably benign	Het
Ticam1	A	G	17: 56,577,182 (GRCm39)	C638R	unknown	Het
Tnrc6c	A	G	11: 117,648,912 (GRCm39)	T1528A	probably benign	Het
Ufl1	A	G	4: 25,262,274 (GRCm39)	I404T	probably benign	Het
Usp43	A	T	11: 67,782,294 (GRCm39)	S375T	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Vmn2r91	A	T	17: 18,330,311 (GRCm39)	I532F	possibly damaging	Het
Vmn2r95	T	C	17: 18,644,367 (GRCm39)	M1T	probably null	Het
Xirp2	T	C	2: 67,345,526 (GRCm39)	V2589A	probably benign	Het
Zfp128	C	T	7: 12,624,240 (GRCm39)	Q203*	probably null	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
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
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'- GCCTAGGCTACATAGTAAGCC -3'
(R):5'- GAGCAACCCCTTTCTGTTTG -3'

Sequencing Primer
(F):5'- GCCTGATAACCTGAGTTAGATCC -3'
(R):5'- CCTTCTCGTGCCAGTTGGAG -3'

Posted On

2019-11-26