Mutagenetix > Incidental Mutation

Incidental Mutation 'R4154:Vegfb'

315066

Institutional Source

Beutler Lab

Gene Symbol

Vegfb

Ensembl Gene

ENSMUSG00000024962

Gene Name

vascular endothelial growth factor B

Synonyms

VEGF-B, Vrf

MMRRC Submission

040998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4154 (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: 97.3%
20x: 95.5%

Validation Efficiency

98% (51/52)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI593442	A	T	9: 52,589,204 (GRCm39)	H124Q	probably benign	Het
Asph	C	T	4: 9,639,250 (GRCm39)	W38*	probably null	Het
Bicdl2	A	G	17: 23,885,066 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,444,668 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Cptp	A	G	4: 155,951,657 (GRCm39)	V12A	possibly damaging	Het
Crim1	A	G	17: 78,545,272 (GRCm39)	I145V	probably benign	Het
Ctsc	G	A	7: 87,948,755 (GRCm39)	M195I	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Fas	T	G	19: 34,296,228 (GRCm39)	I180S	possibly damaging	Het
Fsip2	A	C	2: 82,817,413 (GRCm39)	E4382A	possibly damaging	Het
Galnt5	T	G	2: 57,888,505 (GRCm39)	L35R	probably damaging	Het
Gfpt2	G	A	11: 49,726,605 (GRCm39)		probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gm14496	A	T	2: 181,636,872 (GRCm39)	H110L	probably benign	Het
Golm1	A	G	13: 59,790,167 (GRCm39)	V211A	probably benign	Het
Gsc2	TGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAG	16: 17,732,666 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,722,017 (GRCm39)	M7K	probably benign	Het
Igkv12-44	C	T	6: 69,791,639 (GRCm39)	C108Y	possibly damaging	Het
Lum	T	C	10: 97,404,815 (GRCm39)	S237P	probably damaging	Het
Macf1	T	C	4: 123,365,606 (GRCm39)	K3052E	probably damaging	Het
Mdn1	A	G	4: 32,707,475 (GRCm39)	E1588G	probably damaging	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nucb2	A	G	7: 116,126,902 (GRCm39)	T172A	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Pard3	G	T	8: 128,200,877 (GRCm39)	R978L	probably damaging	Het
Pcdha4	A	G	18: 37,086,639 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Pik3c3	G	A	18: 30,444,336 (GRCm39)	M516I	probably benign	Het
Plxnb2	A	G	15: 89,043,845 (GRCm39)	F1336L	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	C	12: 82,471,988 (GRCm39)	G1323R	possibly damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,626,107 (GRCm39)	K1153R	probably benign	Het
Strn3	C	T	12: 51,673,914 (GRCm39)	V566M	probably damaging	Het
Svep1	A	G	4: 58,069,068 (GRCm39)	F2906S	possibly damaging	Het
Tbc1d8	C	T	1: 39,425,216 (GRCm39)	V545M	probably damaging	Het
Tmem131	T	C	1: 36,847,874 (GRCm39)		probably benign	Het
Tnfsf8	A	G	4: 63,752,595 (GRCm39)	S157P	probably benign	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Vat1l	G	C	8: 114,932,543 (GRCm39)	G30R	possibly damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	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
R4152: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