Mutagenetix > Incidental Mutations

Incidental Mutation 'R2189:Flt4'

237978

Institutional Source

Beutler Lab

Gene Symbol

Flt4

Ensembl Gene

ENSMUSG00000020357

Gene Name

FMS-like tyrosine kinase 4

Synonyms

VEGFR-3, Flt-4, VEGFR3

MMRRC Submission

040191-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49609263-49652739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49635698 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 835 (A835T)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020617]

Predicted Effect

probably benign
Transcript: ENSMUST00000020617
AA Change: A835T

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: A835T

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	36	133	3.73e0	SMART
IG	237	328	3.15e-10	SMART
IG	341	419	4.5e0	SMART
IG	430	552	8.46e-2	SMART
IGc2	569	660	1.29e-6	SMART
IGc2	690	755	2.48e-17	SMART
transmembrane domain	776	798	N/A	INTRINSIC
TyrKc	845	1169	2.2e-134	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 79,098,091	G870A	probably damaging	Het
Adamtsl2	T	C	2: 27,081,738	W12R	probably benign	Het
Bsph1	G	A	7: 13,470,329		probably null	Het
Celsr1	G	T	15: 85,979,230	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,637,145	Y355*	probably null	Het
Cry2	T	C	2: 92,411,692	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,455,049		probably null	Het
Eral1	A	G	11: 78,075,831	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603	M503K	probably benign	Het
Fam83e	G	T	7: 45,722,183	M1I	probably null	Het
Hdac4	T	C	1: 91,975,522	S562G	probably null	Het
Hist1h2bn	A	G	13: 21,754,277	D52G	probably damaging	Het
Icosl	A	G	10: 78,073,925	T235A	possibly damaging	Het
Itga6	A	G	2: 71,825,617	D295G	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lipa	A	T	19: 34,524,799	L15Q	probably benign	Het
Mcc	T	C	18: 44,534,230	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,473,196		probably null	Het
Mmadhc	A	C	2: 50,288,946	C153W	probably damaging	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,169,795	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,180,448	Q389L	probably benign	Het
Olfr1030	A	G	2: 85,984,068	D76G	probably damaging	Het
Olfr469	T	C	7: 107,822,615	I285V	probably benign	Het
Olfr481	A	T	7: 108,081,036	M81L	possibly damaging	Het
Olfr691	A	G	7: 105,337,602	V38A	probably benign	Het
Pml	T	C	9: 58,234,874	N225S	probably benign	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Scap	T	A	9: 110,377,693	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,853,082	L886P	probably damaging	Het
Sugct	T	C	13: 17,662,266	I104V	probably benign	Het
Tmem200c	A	G	17: 68,840,686	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,357,805	L14Q	probably benign	Het
Tnk2	C	T	16: 32,671,421	L381F	probably damaging	Het
Ubr2	C	T	17: 46,943,364	V1454I	probably benign	Het
V1ra8	A	C	6: 90,202,962	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,509,593	M48R	probably benign	Het
Yars	A	G	4: 129,206,189	I227V	probably damaging	Het
Zfp850	C	A	7: 27,989,055	R576L	probably benign	Het
Zfpm2	T	A	15: 41,101,183	F223I	possibly damaging	Het

Other mutations in Flt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Flt4	APN	11	49635261	missense	probably damaging	1.00
IGL01140:Flt4	APN	11	49634943	nonsense	probably null
IGL01360:Flt4	APN	11	49643506	missense	probably benign	0.04
IGL01386:Flt4	APN	11	49637335	missense	probably benign	0.00
IGL01769:Flt4	APN	11	49635171	splice site	probably benign
IGL02189:Flt4	APN	11	49626003	missense	probably damaging	1.00
IGL02206:Flt4	APN	11	49630390	missense	probably damaging	0.98
IGL02324:Flt4	APN	11	49645995	missense	probably benign	0.13
IGL02433:Flt4	APN	11	49630573	missense	probably benign	0.01
IGL03009:Flt4	APN	11	49627124	missense	probably benign	0.02
IGL03035:Flt4	APN	11	49645897	nonsense	probably null
IGL03059:Flt4	APN	11	49642307	missense	probably damaging	0.97
IGL03350:Flt4	APN	11	49634793	nonsense	probably null
PIT4802001:Flt4	UTSW	11	49633169	missense	probably benign
R0360:Flt4	UTSW	11	49636991	missense	probably benign	0.02
R0364:Flt4	UTSW	11	49636991	missense	probably benign	0.02
R0386:Flt4	UTSW	11	49644386	missense	probably benign	0.00
R0395:Flt4	UTSW	11	49630343	missense	probably benign	0.00
R0600:Flt4	UTSW	11	49636339	splice site	probably benign
R0666:Flt4	UTSW	11	49625447	missense	possibly damaging	0.53
R0720:Flt4	UTSW	11	49636339	splice site	probably benign
R0734:Flt4	UTSW	11	49626717	missense	possibly damaging	0.67
R0973:Flt4	UTSW	11	49636339	splice site	probably benign
R1013:Flt4	UTSW	11	49636339	splice site	probably benign
R1103:Flt4	UTSW	11	49636339	splice site	probably benign
R1104:Flt4	UTSW	11	49636339	splice site	probably benign
R1162:Flt4	UTSW	11	49636339	splice site	probably benign
R1241:Flt4	UTSW	11	49636339	splice site	probably benign
R1401:Flt4	UTSW	11	49636339	splice site	probably benign
R1487:Flt4	UTSW	11	49633144	missense	possibly damaging	0.86
R1546:Flt4	UTSW	11	49631981	missense	probably benign	0.03
R1999:Flt4	UTSW	11	49645997	missense	probably benign	0.00
R2110:Flt4	UTSW	11	49625304	missense	probably benign	0.03
R2150:Flt4	UTSW	11	49645997	missense	probably benign	0.00
R2217:Flt4	UTSW	11	49624728	missense	probably benign	0.00
R2218:Flt4	UTSW	11	49624728	missense	probably benign	0.00
R2249:Flt4	UTSW	11	49645959	missense	possibly damaging	0.66
R2402:Flt4	UTSW	11	49637819	missense	possibly damaging	0.82
R3508:Flt4	UTSW	11	49634114	missense	probably damaging	0.99
R3974:Flt4	UTSW	11	49636740	missense	probably damaging	0.99
R4168:Flt4	UTSW	11	49630573	missense	probably benign	0.01
R4700:Flt4	UTSW	11	49626444	intron	probably benign
R4701:Flt4	UTSW	11	49626808	missense	possibly damaging	0.49
R4714:Flt4	UTSW	11	49627207	missense	probably damaging	0.99
R4817:Flt4	UTSW	11	49625415	missense	probably damaging	0.98
R4921:Flt4	UTSW	11	49627143	missense	probably damaging	0.98
R5066:Flt4	UTSW	11	49634163	missense	possibly damaging	0.62
R5095:Flt4	UTSW	11	49627159	missense	possibly damaging	0.95
R5166:Flt4	UTSW	11	49633257	splice site	probably null
R5245:Flt4	UTSW	11	49651034	frame shift	probably null
R5250:Flt4	UTSW	11	49630400	missense	possibly damaging	0.88
R5400:Flt4	UTSW	11	49651034	frame shift	probably null
R5401:Flt4	UTSW	11	49651034	frame shift	probably null
R5402:Flt4	UTSW	11	49651034	frame shift	probably null
R5527:Flt4	UTSW	11	49634754	missense	probably damaging	1.00
R5686:Flt4	UTSW	11	49630603	missense	probably benign	0.00
R5766:Flt4	UTSW	11	49626686	missense	possibly damaging	0.75
R5996:Flt4	UTSW	11	49651070	missense	probably damaging	1.00
R6037:Flt4	UTSW	11	49637040	missense	probably damaging	1.00
R6037:Flt4	UTSW	11	49637040	missense	probably damaging	1.00
R6352:Flt4	UTSW	11	49643506	missense	probably benign	0.04
R6361:Flt4	UTSW	11	49630578	missense	probably benign	0.00
R6574:Flt4	UTSW	11	49625372	missense	probably benign
R7205:Flt4	UTSW	11	49634298	missense	probably null	0.78
R7216:Flt4	UTSW	11	49634681	missense	possibly damaging	0.73
R7257:Flt4	UTSW	11	49626009	missense	probably benign	0.22
R7457:Flt4	UTSW	11	49630328	missense	possibly damaging	0.89
R7559:Flt4	UTSW	11	49644371	missense	possibly damaging	0.50
R8181:Flt4	UTSW	11	49634896	missense	probably damaging	0.99
R8286:Flt4	UTSW	11	49637262	missense	probably benign	0.00
X0017:Flt4	UTSW	11	49626733	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AAGGGCCATTTGTCCTAGGC -3'
(R):5'- GAGCAGCAGGAAATGACCTC -3'

Sequencing Primer
(F):5'- TGTCCTAGGCAAAATATATCCAAGC -3'
(R):5'- AGCTGGAACTGGTCAGGC -3'

Posted On

2014-10-02