Incidental Mutation 'R3777:Vegfb'
ID 271871
Institutional Source Beutler Lab
Gene Symbol Vegfb
Ensembl Gene ENSMUSG00000024962
Gene Name vascular endothelial growth factor B
Synonyms VEGF-B, Vrf
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3777 (G1)
Quality Score 90
Status Not validated
Chromosome 19
Chromosomal Location 6959841-6965019 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 6964767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025914] [ENSMUST00000025915] [ENSMUST00000130048] [ENSMUST00000179118]
AlphaFold P49766
Predicted Effect unknown
Transcript: ENSMUST00000025914
AA Change: L5F
SMART Domains Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962
AA Change: L5F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000130048
AA Change: L5F
SMART Domains Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962
AA Change: L5F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dsg1b G A 18: 20,532,644 (GRCm39) V563I probably damaging Het
Elovl4 ACT A 9: 83,667,201 (GRCm39) probably null Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fam171b T A 2: 83,708,605 (GRCm39) I369K probably benign Het
Fmn1 A G 2: 113,195,467 (GRCm39) E389G unknown Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm5819 A G 18: 8,694,429 (GRCm39) E118G probably damaging Het
Grip1 G A 10: 119,821,535 (GRCm39) probably null Het
Heatr1 C A 13: 12,428,229 (GRCm39) L789I possibly damaging Het
Hsd17b1 T C 11: 100,969,529 (GRCm39) S59P probably damaging Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Inpp4b T A 8: 82,768,621 (GRCm39) V710D possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Larp4 T A 15: 99,888,238 (GRCm39) W92R probably damaging Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mfsd4b2 A G 10: 39,797,527 (GRCm39) I276T possibly damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Myl12a G T 17: 71,301,631 (GRCm39) H165Q possibly damaging Het
Myo18b T A 5: 112,905,462 (GRCm39) E2045D probably damaging Het
Mypn T C 10: 62,983,761 (GRCm39) T496A possibly damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Or13c3 A T 4: 52,855,636 (GRCm39) N292K probably damaging Het
Or2d4 A T 7: 106,543,519 (GRCm39) S230T probably benign Het
Or4b13 T C 2: 90,082,969 (GRCm39) Y121C probably damaging Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Or8g33 A T 9: 39,337,901 (GRCm39) S155R possibly damaging Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Pik3cg A C 12: 32,244,708 (GRCm39) C915W probably damaging Het
Ppfibp2 A G 7: 107,328,396 (GRCm39) T476A probably benign Het
Rapgef1 C T 2: 29,609,701 (GRCm39) H675Y possibly damaging Het
Rpn2 T A 2: 157,141,477 (GRCm39) V263D probably damaging Het
Rps13 A G 7: 115,933,160 (GRCm39) L16P probably damaging Het
Rsph14 C G 10: 74,793,419 (GRCm39) Q360H possibly damaging Het
Rsph14 T G 10: 74,793,420 (GRCm39) Q360P possibly damaging Het
Semp2l2b T C 10: 21,942,861 (GRCm39) E373G probably damaging Het
Smarcc2 G A 10: 128,318,812 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Spag9 G A 11: 93,989,852 (GRCm39) probably null Het
Svil A G 18: 5,090,855 (GRCm39) N915S probably damaging Het
Syt17 A G 7: 118,033,180 (GRCm39) L215P probably damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tph2 T C 10: 114,915,910 (GRCm39) D421G probably benign Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Vdac3 T C 8: 23,070,525 (GRCm39) N128D probably benign Het
Zfp808 T A 13: 62,319,717 (GRCm39) N315K probably damaging Het
Other mutations in Vegfb
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4152:Vegfb UTSW 19 6,963,446 (GRCm39) missense probably damaging 1.00
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'- CCGGTTTGAACTGAGGATCC -3'
(R):5'- AGGTCACATGAGCCTCTTGC -3'

Sequencing Primer
(F):5'- ATCCCCTCGACAGAGGTA -3'
(R):5'- TGTTCCTCAGGCCGTCG -3'
Posted On 2015-03-25