Mutagenetix > Incidental Mutation

Incidental Mutation 'R7701:Flot2'

628507

Institutional Source

Beutler Lab

Gene Symbol

Flot2

Ensembl Gene

ENSMUSG00000061981

Gene Name

flotillin 2

Synonyms

Esa, reggie-2

MMRRC Submission

045762-MU

Accession Numbers

Essential gene?

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

Stock #

R7701 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77928757-77951260 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 77928942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021187] [ENSMUST00000072289] [ENSMUST00000073660] [ENSMUST00000092881] [ENSMUST00000100784] [ENSMUST00000122342] [ENSMUST00000144028] [ENSMUST00000148162]

AlphaFold

Q60634

Predicted Effect

probably benign
Transcript: ENSMUST00000021187

SMART Domains

Protein: ENSMUSP00000021187
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:KR	37	176	1.6e-10	PFAM
Pfam:adh_short	37	238	6e-32	PFAM
Pfam:Epimerase	39	256	3.4e-7	PFAM
low complexity region	317	342	N/A	INTRINSIC

Predicted Effect

probably null
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 null
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 benign
Transcript: ENSMUST00000092881

SMART Domains

Protein: ENSMUSP00000090557
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:adh_short	37	111	3.2e-9	PFAM
Pfam:NAD_binding_10	39	116	7.6e-8	PFAM

Predicted Effect

probably null
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: ENSMUST00000122342

SMART Domains

Protein: ENSMUSP00000112553
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	131	9.1e-17	PFAM
low complexity region	267	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144028

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	T	C	2: 170,443,225 (GRCm39)		probably benign	Het
4932414N04Rik	G	A	2: 68,561,548 (GRCm39)	V292M	possibly damaging	Het
Actn1	A	T	12: 80,221,328 (GRCm39)	V575E	possibly damaging	Het
Arhgef1	T	C	7: 24,612,003 (GRCm39)	S129P	probably benign	Het
Aup1	T	C	6: 83,032,908 (GRCm39)	V214A	probably benign	Het
Bbs10	A	G	10: 111,135,874 (GRCm39)	E329G	probably damaging	Het
Brinp2	A	G	1: 158,094,030 (GRCm39)		probably null	Het
Ccdc3	A	G	2: 5,142,868 (GRCm39)	T42A	possibly damaging	Het
Cd276	T	C	9: 58,442,810 (GRCm39)	N215S	probably benign	Het
Col24a1	T	A	3: 145,020,772 (GRCm39)	M381K	probably benign	Het
Col24a1	A	G	3: 145,072,656 (GRCm39)		probably null	Het
Col6a4	A	C	9: 105,960,087 (GRCm39)	F19V	probably benign	Het
Crybg1	G	T	10: 43,865,139 (GRCm39)	A1446E	probably benign	Het
Dach1	C	T	14: 98,140,670 (GRCm39)	R496K	probably damaging	Het
Dchs2	A	G	3: 83,253,513 (GRCm39)	T2308A	possibly damaging	Het
Duxf1	A	G	10: 58,058,885 (GRCm39)	V623A	possibly damaging	Het
Dync1h1	G	A	12: 110,585,080 (GRCm39)	D828N	probably damaging	Het
Eif2a	A	T	3: 58,459,991 (GRCm39)	H462L	possibly damaging	Het
Gas2	T	G	7: 51,643,101 (GRCm39)	Y263*	probably null	Het
Gm5111	A	G	6: 48,567,027 (GRCm39)	I81V	unknown	Het
Iqcm	A	G	8: 76,281,539 (GRCm39)	I7M	probably benign	Het
Kank1	G	A	19: 25,389,129 (GRCm39)		probably null	Het
Lnx2	A	T	5: 146,961,333 (GRCm39)	V533E	probably damaging	Het
Mapk8ip3	G	T	17: 25,120,378 (GRCm39)	P904T	possibly damaging	Het
Mcm5	C	A	8: 75,850,551 (GRCm39)	H596N	probably benign	Het
Miip	A	T	4: 147,947,371 (GRCm39)	V237E	probably null	Het
Mob3a	G	A	10: 80,525,768 (GRCm39)	A181V	probably damaging	Het
Mrpl38	G	A	11: 116,026,104 (GRCm39)	R99W	probably benign	Het
Naa25	A	G	5: 121,564,042 (GRCm39)	T486A	probably benign	Het
Or2z9	T	A	8: 72,854,030 (GRCm39)	L142Q	probably damaging	Het
Or5b102	A	G	19: 13,041,445 (GRCm39)	I223M	probably damaging	Het
Or8g4	A	G	9: 39,662,597 (GRCm39)	Y305C	probably benign	Het
Pcdha8	A	T	18: 37,126,864 (GRCm39)	N449Y	probably damaging	Het
Pcdhb6	A	T	18: 37,467,562 (GRCm39)	D161V	probably damaging	Het
Pdlim3	A	G	8: 46,361,576 (GRCm39)	D134G	probably benign	Het
Phpt1	A	G	2: 25,464,799 (GRCm39)	V18A	probably benign	Het
Prg4	T	C	1: 150,333,293 (GRCm39)	K177E	possibly damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Rab14	A	G	2: 35,073,427 (GRCm39)	F150L		Het
Rgs14	A	G	13: 55,527,138 (GRCm39)	D169G	probably damaging	Het
Rreb1	C	T	13: 38,114,092 (GRCm39)	L484F	possibly damaging	Het
Rsph14	A	T	10: 74,793,608 (GRCm39)	Y264*	probably null	Het
Scly	T	C	1: 91,236,030 (GRCm39)	I152T		Het
Ska1	A	T	18: 74,335,714 (GRCm39)	H85Q	probably damaging	Het
Slc35b3	T	C	13: 39,128,611 (GRCm39)	M159V	probably benign	Het
Smok2b	A	G	17: 13,453,767 (GRCm39)		probably benign	Het
Spock1	G	A	13: 57,735,472 (GRCm39)	Q103*	probably null	Het
Topbp1	T	C	9: 103,210,184 (GRCm39)	V914A	probably damaging	Het
Tspan3	A	T	9: 56,054,803 (GRCm39)	Y41*	probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,560,028 (GRCm39)	I29458L	possibly damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Zfat	C	A	15: 68,052,757 (GRCm39)	E346*	probably null	Het
Zfp341	T	A	2: 154,476,000 (GRCm39)		probably null	Het
Zfp54	A	G	17: 21,654,357 (GRCm39)	T284A	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
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'- AGCTGACTGTGGATGCTCTG -3'
(R):5'- ATTAACGGGTCTGCCTCACC -3'

Sequencing Primer
(F):5'- ACTGTGGATGCTCTGGCTCC -3'
(R):5'- GTCTGCCTCACCCGGAAAAG -3'

Posted On

2020-04-27