Mutagenetix > Incidental Mutation

Incidental Mutation 'R4151:Vegfc'

314900

Institutional Source

Beutler Lab

Gene Symbol

Vegfc

Ensembl Gene

ENSMUSG00000031520

Gene Name

vascular endothelial growth factor C

Synonyms

VEGF-C

MMRRC Submission

040861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4151 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54530567-54639489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54530824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 4 (L4Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033919] [ENSMUST00000210831]

AlphaFold

P97953

Predicted Effect

unknown
Transcript: ENSMUST00000033919
AA Change: L4Q

SMART Domains

Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: L4Q

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
PDGF	125	209	5.07e-48	SMART
Pfam:CXCXC	279	291	1.6e-7	PFAM
Pfam:CXCXC	327	339	1.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209703

Predicted Effect

unknown
Transcript: ENSMUST00000210831
AA Change: L4Q

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutation of this gene affects the development of the lymphatic system. Homozygous inactivation is embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	C	T	9: 122,090,601 (GRCm39)	W237*	probably null	Het
Armc9	C	T	1: 86,092,497 (GRCm39)	T87M	probably damaging	Het
Astn2	C	T	4: 65,647,557 (GRCm39)		probably null	Het
Atxn7l1	G	A	12: 33,414,481 (GRCm39)	V506M	probably damaging	Het
Cenpe	A	G	3: 134,920,914 (GRCm39)	N36D	probably benign	Het
Cfap45	T	A	1: 172,359,788 (GRCm39)	I96N	probably damaging	Het
Cyp8b1	A	T	9: 121,745,134 (GRCm39)	V66D	probably damaging	Het
Dnajb6	C	G	5: 29,961,234 (GRCm39)	L118V	probably benign	Het
Dpy19l4	A	G	4: 11,309,485 (GRCm39)	S44P	possibly damaging	Het
Dync2li1	A	G	17: 84,935,763 (GRCm39)	H20R	probably benign	Het
Ecpas	A	T	4: 58,836,254 (GRCm39)	S695R	possibly damaging	Het
Eif3g	T	C	9: 20,806,429 (GRCm39)	D220G	probably benign	Het
Fbxo38	GTGCTGCTGCTGCTGCTGCTGC	GTGCTGCTGCTGCTGCTGC	18: 62,648,399 (GRCm39)		probably benign	Het
Gata2	T	A	6: 88,176,620 (GRCm39)	H26Q	probably damaging	Het
Gle1	T	C	2: 29,834,056 (GRCm39)	I434T	probably damaging	Het
Gm5145	A	G	17: 20,791,360 (GRCm39)	E246G	probably damaging	Het
Ints10	T	A	8: 69,247,250 (GRCm39)		probably null	Het
Kdr	G	T	5: 76,117,761 (GRCm39)	A664E	possibly damaging	Het
Klhl1	A	C	14: 96,755,752 (GRCm39)	M1R	probably null	Het
Lama4	T	A	10: 38,881,424 (GRCm39)	F71Y	probably benign	Het
Madd	C	A	2: 90,973,428 (GRCm39)	R1410L	probably benign	Het
Magi2	T	C	5: 19,432,290 (GRCm39)	S2P	probably damaging	Het
Map4k3	T	C	17: 80,951,963 (GRCm39)	K228R	probably damaging	Het
Mrpl43	A	G	19: 44,994,175 (GRCm39)	L148P	possibly damaging	Het
Msi2	G	C	11: 88,608,870 (GRCm39)	S16C	probably damaging	Het
Myo1e	G	T	9: 70,204,633 (GRCm39)	G78*	probably null	Het
Notch2	T	C	3: 98,054,387 (GRCm39)	L2350S	possibly damaging	Het
Nptn	G	T	9: 58,550,825 (GRCm39)	S168I	probably benign	Het
Nsmce2	A	G	15: 59,473,214 (GRCm39)	T244A	probably benign	Het
Or5aq6	C	T	2: 86,923,514 (GRCm39)	V76I	probably benign	Het
Ostn	T	A	16: 27,140,152 (GRCm39)	S22T	probably benign	Het
Plekhb2	T	G	1: 34,903,564 (GRCm39)	F102V	probably benign	Het
Prkdc	A	G	16: 15,634,637 (GRCm39)	D3594G	probably benign	Het
Psmd6	G	C	14: 14,120,157 (GRCm38)	L61V	probably benign	Het
Rbm33	C	T	5: 28,592,938 (GRCm39)	P573S	probably damaging	Het
Rfk	A	C	19: 17,372,672 (GRCm39)	I65L	probably benign	Het
Rnf141	A	T	7: 110,436,406 (GRCm39)	D7E	probably benign	Het
Shank2	A	T	7: 143,608,565 (GRCm39)	K153M	probably damaging	Het
Slc30a2	A	T	4: 134,071,359 (GRCm39)	I31F	probably benign	Het
Slco3a1	G	T	7: 74,009,586 (GRCm39)	A243E	probably damaging	Het
Stab2	G	A	10: 86,838,847 (GRCm39)	T73I	probably benign	Het
Sufu	G	A	19: 46,438,411 (GRCm39)		probably null	Het
Sync	C	T	4: 129,187,519 (GRCm39)	Q184*	probably null	Het
Tnfrsf25	G	T	4: 152,204,258 (GRCm39)	A376S	probably damaging	Het
Tnpo1	A	T	13: 98,989,407 (GRCm39)	I765N	probably damaging	Het
Ube2d2b	A	T	5: 107,978,747 (GRCm39)	K133*	probably null	Het
Ulk3	C	T	9: 57,499,650 (GRCm39)	S217L	possibly damaging	Het
Upf2	C	A	2: 5,966,516 (GRCm39)	Q379K	unknown	Het
Vmn2r104	A	T	17: 20,250,147 (GRCm39)	I708N	probably damaging	Het

Other mutations in Vegfc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00658:Vegfc	APN	8	54,609,983 (GRCm39)	splice site	probably benign
IGL02120:Vegfc	APN	8	54,634,436 (GRCm39)	missense	possibly damaging	0.96
IGL03344:Vegfc	APN	8	54,610,186 (GRCm39)	missense	possibly damaging	0.64
R0620:Vegfc	UTSW	8	54,610,174 (GRCm39)	missense	probably benign	0.01
R1167:Vegfc	UTSW	8	54,639,078 (GRCm39)	missense	probably benign	0.06
R1826:Vegfc	UTSW	8	54,634,347 (GRCm39)	missense	possibly damaging	0.88
R4226:Vegfc	UTSW	8	54,612,445 (GRCm39)	missense	probably damaging	1.00
R4227:Vegfc	UTSW	8	54,612,445 (GRCm39)	missense	probably damaging	1.00
R4414:Vegfc	UTSW	8	54,634,130 (GRCm39)	missense	probably benign	0.02
R5963:Vegfc	UTSW	8	54,634,319 (GRCm39)	missense	probably benign
R6241:Vegfc	UTSW	8	54,634,289 (GRCm39)	missense	probably benign	0.00
R6368:Vegfc	UTSW	8	54,634,265 (GRCm39)	missense	probably damaging	1.00
R6728:Vegfc	UTSW	8	54,639,057 (GRCm39)	missense	probably damaging	0.99
R7044:Vegfc	UTSW	8	54,610,080 (GRCm39)	missense	possibly damaging	0.89
R7776:Vegfc	UTSW	8	54,530,835 (GRCm39)	missense	unknown
R9374:Vegfc	UTSW	8	54,622,180 (GRCm39)	missense	possibly damaging	0.95
R9449:Vegfc	UTSW	8	54,610,053 (GRCm39)	missense	probably benign	0.05
R9663:Vegfc	UTSW	8	54,634,338 (GRCm39)	missense	probably damaging	1.00
R9776:Vegfc	UTSW	8	54,633,829 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTCCTGTGAGGCTCGTACC -3'
(R):5'- TCTCTGTACACCCAGTAAAGC -3'

Sequencing Primer
(F):5'- TGAGGCTCGTACCTGACAC -3'
(R):5'- ACTTGGGAGCCTCGGATC -3'

Posted On

2015-05-14