Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Flot2'

554706

Institutional Source

Beutler Lab

Gene Symbol

Flot2

Ensembl Gene

ENSMUSG00000061981

Gene Name

flotillin 2

Synonyms

Esa, reggie-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78037931-78060434 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78053367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000073342 (fasta)

Gene Model

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

AlphaFold

Q60634

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000073660
AA Change: S46P

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981
AA Change: S46P

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 damaging
Transcript: ENSMUST00000148162
AA Change: S46P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981
AA Change: S46P

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982 (GRCm38)	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575 (GRCm38)	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081 (GRCm38)	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298 (GRCm38)	L430P		Het
Alk	T	C	17: 71,949,921 (GRCm38)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869 (GRCm38)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670 (GRCm38)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856 (GRCm38)	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659 (GRCm38)	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607 (GRCm38)	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788 (GRCm38)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450 (GRCm38)	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912 (GRCm38)	E428G	probably benign	Het
Csad	G	A	15: 102,188,650 (GRCm38)	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455 (GRCm38)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686 (GRCm38)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578 (GRCm38)	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646 (GRCm38)	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429 (GRCm38)	K163E	possibly damaging	Het
Fsip2	C	A	2: 82,990,852 (GRCm38)	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161 (GRCm38)	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971 (GRCm38)	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453 (GRCm38)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077 (GRCm38)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173 (GRCm38)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087 (GRCm38)	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160 (GRCm38)	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905 (GRCm38)	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939 (GRCm38)	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652 (GRCm38)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829 (GRCm38)	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250 (GRCm38)	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642 (GRCm38)	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663 (GRCm38)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865 (GRCm38)	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501 (GRCm38)	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963 (GRCm38)	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895 (GRCm38)	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102 (GRCm38)	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602 (GRCm38)	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449 (GRCm38)	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444 (GRCm38)	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200 (GRCm38)	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796 (GRCm38)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185 (GRCm38)	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908 (GRCm38)		probably null	Het
Rhpn2	A	G	7: 35,390,753 (GRCm38)		probably null	Het
Runx1	T	A	16: 92,613,760 (GRCm38)	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408 (GRCm38)	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447 (GRCm38)	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523 (GRCm38)	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431 (GRCm38)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171 (GRCm38)	I509T	probably benign	Het
Srr	C	A	11: 74,910,308 (GRCm38)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786 (GRCm38)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366 (GRCm38)	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902 (GRCm38)	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867 (GRCm38)	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591 (GRCm38)	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451 (GRCm38)	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781 (GRCm38)	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364 (GRCm38)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm38)	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015 (GRCm38)	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273 (GRCm38)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343 (GRCm38)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961 (GRCm38)		probably null	Het
Zw10	C	T	9: 49,071,644 (GRCm38)	T525I	probably benign	Het

Other mutations in Flot2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Flot2	APN	11	78,049,507 (GRCm38)	missense	probably damaging	1.00
IGL02965:Flot2	APN	11	78,059,205 (GRCm38)	missense	possibly damaging	0.50
R0330:Flot2	UTSW	11	78,058,958 (GRCm38)	missense	possibly damaging	0.94
R1200:Flot2	UTSW	11	78,054,805 (GRCm38)	missense	probably damaging	1.00
R1700:Flot2	UTSW	11	78,049,547 (GRCm38)	missense	possibly damaging	0.88
R1701:Flot2	UTSW	11	78,049,547 (GRCm38)	missense	possibly damaging	0.88
R1735:Flot2	UTSW	11	78,058,005 (GRCm38)	missense	probably benign	0.05
R1992:Flot2	UTSW	11	78,058,619 (GRCm38)	missense	probably damaging	0.97
R4812:Flot2	UTSW	11	78,053,365 (GRCm38)	missense	probably damaging	0.99
R4840:Flot2	UTSW	11	78,057,513 (GRCm38)	missense	probably damaging	1.00
R4927:Flot2	UTSW	11	78,059,062 (GRCm38)	missense	probably damaging	0.98
R5396:Flot2	UTSW	11	78,049,488 (GRCm38)	nonsense	probably null
R6865:Flot2	UTSW	11	78,049,492 (GRCm38)	missense	probably benign	0.05
R7085:Flot2	UTSW	11	78,058,074 (GRCm38)	missense	possibly damaging	0.94
R7262:Flot2	UTSW	11	78,057,349 (GRCm38)	missense	probably damaging	0.99
R7286:Flot2	UTSW	11	78,054,786 (GRCm38)	missense	probably benign	0.05
R7350:Flot2	UTSW	11	78,057,976 (GRCm38)	missense	probably damaging	1.00
R7359:Flot2	UTSW	11	78,058,557 (GRCm38)	missense	probably benign	0.25
R7498:Flot2	UTSW	11	78,053,362 (GRCm38)	critical splice acceptor site	probably null
R7701:Flot2	UTSW	11	78,038,116 (GRCm38)	splice site	probably null
R7755:Flot2	UTSW	11	78,049,513 (GRCm38)	missense	probably benign	0.00
R7955:Flot2	UTSW	11	78,058,943 (GRCm38)	critical splice acceptor site	probably null
R8273:Flot2	UTSW	11	78,059,195 (GRCm38)	missense	probably benign
R8961:Flot2	UTSW	11	78,054,806 (GRCm38)	intron	probably benign
R9021:Flot2	UTSW	11	78,058,979 (GRCm38)	missense	probably benign	0.35
R9045:Flot2	UTSW	11	78,059,197 (GRCm38)	missense	probably benign	0.03
R9329:Flot2	UTSW	11	78,058,946 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTACAGCCTGAGACTGTGC -3'
(R):5'- AGTCTGCCTGAATCTACCCTGG -3'

Sequencing Primer
(F):5'- CTGAGACTGTGCTGGCCTG -3'
(R):5'- ACACTCGGGAGGAGAGTCCATC -3'

Posted On

2019-06-07