Mutagenetix > Incidental Mutation

Incidental Mutation 'R4152:Vegfb'

314974

Institutional Source

Beutler Lab

Gene Symbol

Vegfb

Ensembl Gene

ENSMUSG00000024962

Gene Name

vascular endothelial growth factor B

Synonyms

VEGF-B, Vrf

MMRRC Submission

040996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6959841-6965019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6963446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 106 (Y106C)

Ref Sequence

ENSEMBL: ENSMUSP00000025914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025914] [ENSMUST00000025915] [ENSMUST00000130048] [ENSMUST00000179118]

AlphaFold

P49766

Predicted Effect

probably damaging
Transcript: ENSMUST00000025914
AA Change: Y106C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962
AA Change: Y106C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDGF	45	126	1.11e-44	SMART
low complexity region	182	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025915

SMART Domains

Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
DnaJ	36	94	9.97e-23	SMART
transmembrane domain	160	179	N/A	INTRINSIC
low complexity region	205	227	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130048
AA Change: Y106C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962
AA Change: Y106C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDGF	45	126	1.11e-44	SMART
Pfam:VEGF_C	134	188	1.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147924

Predicted Effect

probably benign
Transcript: ENSMUST00000179118

SMART Domains

Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
DnaJ	36	94	9.97e-23	SMART
transmembrane domain	159	178	N/A	INTRINSIC
low complexity region	204	226	N/A	INTRINSIC

Meta Mutation Damage Score

0.2840

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (45/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one or more disruptions in this gene display defective cardiac morphology and physiology, sensitivity to induced neurodegeneration, increased weight and brown adipose whitening. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,183,752 (GRCm39)	M31R	possibly damaging	Het
Akap6	A	C	12: 53,187,190 (GRCm39)	S1535R	probably benign	Het
Ap3b2	A	G	7: 81,127,765 (GRCm39)	I137T	probably damaging	Het
Cdc16	A	G	8: 13,812,857 (GRCm39)	S36G	probably damaging	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Col4a1	T	C	8: 11,267,227 (GRCm39)		probably null	Het
Crem	G	T	18: 3,288,055 (GRCm39)	N179K	probably damaging	Het
Fam78b	T	C	1: 166,906,369 (GRCm39)	M176T	probably benign	Het
Fcgbpl1	T	A	7: 27,856,322 (GRCm39)	H2036Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,413 (GRCm39)		probably null	Het
Gm6483	T	C	8: 19,737,926 (GRCm39)		noncoding transcript	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klk1b16	T	C	7: 43,789,973 (GRCm39)	F81S	probably benign	Het
Lpgat1	C	A	1: 191,451,600 (GRCm39)	Y36*	probably null	Het
Mavs	A	G	2: 131,088,528 (GRCm39)	D444G	probably benign	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nemp2	A	G	1: 52,680,210 (GRCm39)	S145G	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Or7g20	T	A	9: 18,946,816 (GRCm39)	Y132*	probably null	Het
Or8g52	A	C	9: 39,631,296 (GRCm39)	M258L	probably benign	Het
Pds5a	A	T	5: 65,823,514 (GRCm39)	C92*	probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Phf3	C	T	1: 30,870,539 (GRCm39)	V116I	probably benign	Het
Prl8a2	T	C	13: 27,534,985 (GRCm39)	Y86H	possibly damaging	Het
Rab4b	T	C	7: 26,875,551 (GRCm39)		probably benign	Het
Rsad1	T	C	11: 94,439,449 (GRCm39)		probably benign	Het
Sim1	G	A	10: 50,859,950 (GRCm39)	C604Y	probably damaging	Het
Slc5a3	T	A	16: 91,874,696 (GRCm39)	L251*	probably null	Het
Slit3	A	G	11: 35,589,147 (GRCm39)	N1234S	probably damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Snx31	T	C	15: 36,525,785 (GRCm39)	N305D	probably benign	Het
St14	T	C	9: 31,001,802 (GRCm39)	I768V	probably benign	Het
Tep1	G	A	14: 51,075,051 (GRCm39)	H1755Y	possibly damaging	Het
Tlr6	A	C	5: 65,110,555 (GRCm39)	F784C	probably damaging	Het
Tmem132a	A	G	19: 10,836,427 (GRCm39)	V701A	probably benign	Het
Tspan15	A	T	10: 62,025,621 (GRCm39)	M197K	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Vmn2r18	T	A	5: 151,485,730 (GRCm39)	Q588L	probably damaging	Het
Vmn2r66	T	C	7: 84,654,800 (GRCm39)	D503G	probably benign	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	Het

Other mutations in Vegfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Vegfb	APN	19	6,963,846 (GRCm39)	missense	probably damaging	1.00
IGL02365:Vegfb	APN	19	6,962,855 (GRCm39)	missense	probably benign	0.19
IGL02431:Vegfb	APN	19	6,963,386 (GRCm39)	splice site	probably null
R2040:Vegfb	UTSW	19	6,963,407 (GRCm39)	missense	possibly damaging	0.93
R2312:Vegfb	UTSW	19	6,962,795 (GRCm39)	missense	possibly damaging	0.63
R3777:Vegfb	UTSW	19	6,964,767 (GRCm39)	unclassified	probably benign
R4154:Vegfb	UTSW	19	6,963,446 (GRCm39)	missense	probably damaging	1.00
R5635:Vegfb	UTSW	19	6,960,214 (GRCm39)	makesense	probably null
R7804:Vegfb	UTSW	19	6,963,707 (GRCm39)	missense	probably damaging	1.00
R8348:Vegfb	UTSW	19	6,962,856 (GRCm39)	missense	probably benign	0.01
R8673:Vegfb	UTSW	19	6,962,812 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATCCATGCCTACTACTTCTGG -3'
(R):5'- AAGTCCGAATGCAGGTACCAG -3'

Sequencing Primer
(F):5'- GGCTCTACTCTCAGTCACCTGG -3'
(R):5'- ATGCAGGTACCAGGGCCTATG -3'

Posted On

2015-05-14