Mutagenetix > Incidental Mutation

Incidental Mutation 'R8961:Flot2'

720411

Institutional Source

Beutler Lab

Gene Symbol

Flot2

Ensembl Gene

ENSMUSG00000061981

Gene Name

flotillin 2

Synonyms

Esa, reggie-2

MMRRC Submission

068795-MU

Accession Numbers

Essential gene?

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

Stock #

R8961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77928757-77951260 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 77945632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073342 (fasta)

Gene Model

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

AlphaFold

Q60634

Predicted Effect

silent
Transcript: ENSMUST00000072289

SMART Domains

Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981

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

silent
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

unknown
Transcript: ENSMUST00000148162
AA Change: V82I

SMART Domains

Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981
AA Change: V82I

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	A	3: 19,664,633 (GRCm39)		probably benign	Het
Angptl6	T	C	9: 20,789,467 (GRCm39)	T142A	probably benign	Het
Atp6v1b2	A	G	8: 69,555,414 (GRCm39)	I202V	probably benign	Het
B3gat2	A	T	1: 23,801,900 (GRCm39)	D62V	probably benign	Het
Ccdc180	A	G	4: 45,929,573 (GRCm39)	D1211G	possibly damaging	Het
Ccp110	T	G	7: 118,322,110 (GRCm39)	D588E	probably damaging	Het
Cdh6	A	T	15: 13,041,447 (GRCm39)	I539K	probably benign	Het
Chd5	A	G	4: 152,467,489 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,680,117 (GRCm39)	S953P	possibly damaging	Het
Dennd2a	T	C	6: 39,462,555 (GRCm39)	K652E	probably damaging	Het
Dnajb3	T	A	1: 88,132,998 (GRCm39)	R135*	probably null	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Elfn2	T	C	15: 78,557,378 (GRCm39)	S390G	probably benign	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam135b	T	A	15: 71,404,812 (GRCm39)	N78I	probably damaging	Het
Gm10277	T	A	11: 77,677,826 (GRCm39)		probably benign	Het
Itpr1	T	C	6: 108,470,666 (GRCm39)	V2198A	possibly damaging	Het
Kndc1	T	A	7: 139,503,976 (GRCm39)	F1093L	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Kpna4	T	C	3: 68,986,821 (GRCm39)	T523A	probably benign	Het
Krt39	T	C	11: 99,409,931 (GRCm39)	D202G	possibly damaging	Het
Loxhd1	C	T	18: 77,472,765 (GRCm39)	T985M	probably damaging	Het
Mdc1	T	C	17: 36,159,407 (GRCm39)	S596P	probably benign	Het
Misp	A	G	10: 79,663,823 (GRCm39)	Q599R	probably benign	Het
Mogs	C	A	6: 83,092,720 (GRCm39)	F53L	probably benign	Het
Mthfr	A	T	4: 148,128,099 (GRCm39)	N167Y	probably damaging	Het
Nod1	C	T	6: 54,926,461 (GRCm39)	E53K	probably damaging	Het
Or1j11	A	T	2: 36,312,177 (GRCm39)	I256F	probably damaging	Het
Or52l1	A	G	7: 104,830,376 (GRCm39)	I48T	possibly damaging	Het
Or5m5	T	A	2: 85,814,610 (GRCm39)	M142K	probably damaging	Het
Or6c5c	C	T	10: 129,299,225 (GRCm39)	P227S	probably damaging	Het
Or6z5	T	C	7: 6,477,763 (GRCm39)	V218A	probably benign	Het
Pkd1l2	A	G	8: 117,726,717 (GRCm39)	I2263T	possibly damaging	Het
Rbbp8	T	C	18: 11,865,262 (GRCm39)	M717T	probably benign	Het
Rest	A	G	5: 77,416,482 (GRCm39)	H232R	probably damaging	Het
Rps6ka1	A	G	4: 133,587,362 (GRCm39)		probably null	Het
Rtf1	T	A	2: 119,557,377 (GRCm39)	F465I	probably benign	Het
Skil	T	C	3: 31,167,729 (GRCm39)	S454P	probably benign	Het
Snx13	T	C	12: 35,155,285 (GRCm39)	Y450H	probably damaging	Het
Spef2	T	A	15: 9,647,414 (GRCm39)	E971V	possibly damaging	Het
Sqle	T	A	15: 59,187,695 (GRCm39)	M1K	probably null	Het
Srcap	C	G	7: 127,141,101 (GRCm39)	P1566R	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tmc3	T	C	7: 83,256,970 (GRCm39)	Y408H	probably damaging	Het
Uba2	A	T	7: 33,855,642 (GRCm39)		probably benign	Het
Unc13c	G	T	9: 73,839,524 (GRCm39)	N442K	probably benign	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Vwa7	C	T	17: 35,238,086 (GRCm39)	T229I	probably damaging	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Zcchc9	C	A	13: 91,953,955 (GRCm39)		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
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
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'- TCATGATCTTTGCACATACAGCC -3'
(R):5'- GCCAAGTGGTCATGTTCCAATG -3'

Sequencing Primer
(F):5'- AGCCAGCTACATATCTCTGAAG -3'
(R):5'- GTTCCAATGATGATGATCCTGCAG -3'

Posted On

2022-08-08