Incidental Mutation 'R4277:Vegfa'
ID 322752
Institutional Source Beutler Lab
Gene Symbol Vegfa
Ensembl Gene ENSMUSG00000023951
Gene Name vascular endothelial growth factor A
Synonyms VEGF-A, VEGF120, VEGF188, VEGF164, VPF, Vegf
MMRRC Submission 041078-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4277 (G1)
Quality Score 130
Status Validated
Chromosome 17
Chromosomal Location 46327919-46343295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46342392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 142 (V142A)
Ref Sequence ENSEMBL: ENSMUSP00000151185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024747] [ENSMUST00000071648] [ENSMUST00000113519] [ENSMUST00000113520] [ENSMUST00000142351] [ENSMUST00000167860] [ENSMUST00000214739] [ENSMUST00000217017]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024747
SMART Domains Protein: ENSMUSP00000024747
Gene: ENSMUSG00000023951

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071648
AA Change: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071575
Gene: ENSMUSG00000023951
AA Change: V142A

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 87 105 N/A INTRINSIC
low complexity region 121 143 N/A INTRINSIC
low complexity region 158 176 N/A INTRINSIC
PDGF 227 309 1.48e-49 SMART
Pfam:VEGF_C 312 368 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113519
SMART Domains Protein: ENSMUSP00000109147
Gene: ENSMUSG00000023951

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
low complexity region 140 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113520
SMART Domains Protein: ENSMUSP00000109148
Gene: ENSMUSG00000023951

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
Pfam:VEGF_C 154 208 9.5e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142351
AA Change: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115883
Gene: ENSMUSG00000023951
AA Change: V142A

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 87 105 N/A INTRINSIC
low complexity region 121 143 N/A INTRINSIC
low complexity region 158 176 N/A INTRINSIC
PDGF 227 309 1.48e-49 SMART
Pfam:VEGF_C 339 392 1.9e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146149
Predicted Effect probably benign
Transcript: ENSMUST00000167860
AA Change: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131901
Gene: ENSMUSG00000023951
AA Change: V142A

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 87 105 N/A INTRINSIC
low complexity region 121 143 N/A INTRINSIC
low complexity region 158 176 N/A INTRINSIC
PDGF 227 309 1.48e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214739
AA Change: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217017
AA Change: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site.[provided by RefSeq, Nov 2015]
PHENOTYPE: Hetero- or homozygous null mutants show embryonic lethality with impaired angiogenesis and blood-island formation. Mutants selectively expressing isoform 120 or 188 exhibit vascular outgrowth/patterning defects or impaired arterial development, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,397,955 (GRCm39) probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cdh20 T A 1: 109,993,418 (GRCm39) I291K probably benign Het
Cdhr3 T G 12: 33,110,232 (GRCm39) S351R probably null Het
Dnah10 T C 5: 124,809,394 (GRCm39) S221P probably benign Het
Dstyk G A 1: 132,383,151 (GRCm39) probably null Het
Ern1 T C 11: 106,298,007 (GRCm39) I705V probably benign Het
Folh1 A G 7: 86,412,123 (GRCm39) probably null Het
Hemk1 A G 9: 107,205,728 (GRCm39) Y260H possibly damaging Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Ldhc G A 7: 46,515,890 (GRCm39) A62T probably benign Het
Ndufs1 C T 1: 63,209,256 (GRCm39) V36I possibly damaging Het
Nsun4 C T 4: 115,891,479 (GRCm39) G300D probably damaging Het
Nsun5 A G 5: 135,398,914 (GRCm39) Y26C probably damaging Het
Ntn4 T C 10: 93,577,072 (GRCm39) I580T possibly damaging Het
Or7d10 A G 9: 19,831,685 (GRCm39) Y60C possibly damaging Het
Rasal2 A T 1: 156,984,696 (GRCm39) I992N possibly damaging Het
Rasgrp4 T A 7: 28,852,019 (GRCm39) probably benign Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spp2 T C 1: 88,338,873 (GRCm39) F79L probably damaging Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Trpv3 A G 11: 73,187,264 (GRCm39) T699A probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Other mutations in Vegfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Vegfa APN 17 46,336,347 (GRCm39) missense possibly damaging 0.88
IGL02859:Vegfa APN 17 46,335,421 (GRCm39) missense probably benign 0.43
R1442:Vegfa UTSW 17 46,336,418 (GRCm39) missense possibly damaging 0.85
R1760:Vegfa UTSW 17 46,336,395 (GRCm39) missense probably damaging 1.00
R1982:Vegfa UTSW 17 46,329,786 (GRCm39) makesense probably null
R2012:Vegfa UTSW 17 46,336,284 (GRCm39) missense probably benign 0.21
R3729:Vegfa UTSW 17 46,335,446 (GRCm39) missense possibly damaging 0.80
R4276:Vegfa UTSW 17 46,342,392 (GRCm39) missense probably benign
R4279:Vegfa UTSW 17 46,342,392 (GRCm39) missense probably benign
R4654:Vegfa UTSW 17 46,336,176 (GRCm39) intron probably benign
R4696:Vegfa UTSW 17 46,339,272 (GRCm39) splice site probably null
R7798:Vegfa UTSW 17 46,342,761 (GRCm39) missense probably damaging 1.00
R7863:Vegfa UTSW 17 46,336,461 (GRCm39) missense probably damaging 1.00
R7946:Vegfa UTSW 17 46,336,377 (GRCm39) missense probably damaging 0.96
R8235:Vegfa UTSW 17 46,342,236 (GRCm39) missense possibly damaging 0.91
R8683:Vegfa UTSW 17 46,342,396 (GRCm39) missense probably benign 0.35
R8756:Vegfa UTSW 17 46,342,465 (GRCm39) missense probably damaging 1.00
R9700:Vegfa UTSW 17 46,342,713 (GRCm39) missense probably damaging 1.00
R9701:Vegfa UTSW 17 46,342,713 (GRCm39) missense probably damaging 1.00
R9733:Vegfa UTSW 17 46,335,401 (GRCm39) missense probably damaging 1.00
X0026:Vegfa UTSW 17 46,336,452 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTACCTTGGCATGGTGGAG -3'
(R):5'- AACTTTTCGTCCAACTTCTGGG -3'

Sequencing Primer
(F):5'- CCTTGGCATGGTGGAGGTACAG -3'
(R):5'- CTGGGAGAAGTGCTAGCTCG -3'
Posted On 2015-06-20