Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Vegfc'

471879

Institutional Source

Beutler Lab

Gene Symbol

Vegfc

Ensembl Gene

ENSMUSG00000031520

Gene Name

vascular endothelial growth factor C

Synonyms

VEGF-C

MMRRC Submission

044148-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54530567-54639489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54634319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 333 (N333D)

Ref Sequence

ENSEMBL: ENSMUSP00000033919 (fasta)

Gene Model

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

AlphaFold

P97953

Predicted Effect

probably benign
Transcript: ENSMUST00000033919
AA Change: N333D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: N333D

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

probably benign
Transcript: ENSMUST00000210831

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,411,579 (GRCm39)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,734,013 (GRCm39)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Lipn	A	G	19: 34,058,700 (GRCm39)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,556,168 (GRCm39)	V174E	probably benign	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rad54l	A	T	4: 115,967,584 (GRCm39)	W233R	probably damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Trerf1	C	T	17: 47,625,263 (GRCm39)		noncoding transcript	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		probably benign	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
R4151:Vegfc	UTSW	8	54,530,824 (GRCm39)	missense	unknown
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
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'- CATGATGTCTGTGGACCCAAC -3'
(R):5'- GGTATGGGTTTAGAAAACAGCTTC -3'

Sequencing Primer
(F):5'- TCTGTGGACCCAACAAGGAGC -3'
(R):5'- GGTTTAGAAAACAGCTTCAGGTTG -3'

Posted On

2017-03-31