Incidental Mutation 'R4414:Vegfc'
ID 328066
Institutional Source Beutler Lab
Gene Symbol Vegfc
Ensembl Gene ENSMUSG00000031520
Gene Name vascular endothelial growth factor C
Synonyms VEGF-C
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4414 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 54530567-54639489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54634130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 270 (N270Y)
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: N270Y

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: N270Y

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T A 14: 44,406,690 (GRCm39) M120L probably benign Het
Aco2 A G 15: 81,773,584 (GRCm39) probably null Het
Acss1 A G 2: 150,501,823 (GRCm39) S115P possibly damaging Het
Ank2 A T 3: 127,019,411 (GRCm39) probably null Het
AU041133 C T 10: 81,987,316 (GRCm39) T323M probably damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Bod1l G A 5: 41,977,870 (GRCm39) T1148I probably benign Het
Celsr1 C T 15: 85,847,334 (GRCm39) V1468I probably benign Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cep89 A G 7: 35,115,822 (GRCm39) probably benign Het
Cfap58 A G 19: 47,941,480 (GRCm39) K283E possibly damaging Het
Cog5 C T 12: 31,710,853 (GRCm39) Q78* probably null Het
Col20a1 C T 2: 180,643,043 (GRCm39) R796C possibly damaging Het
Dnah7b A T 1: 46,165,840 (GRCm39) T502S probably benign Het
Dnm1l A G 16: 16,160,559 (GRCm39) probably null Het
Dse A T 10: 34,028,632 (GRCm39) F819L probably benign Het
Eloa G T 4: 135,738,553 (GRCm39) L136I possibly damaging Het
Eloa T A 4: 135,738,576 (GRCm39) H128L probably benign Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Golim4 T G 3: 75,802,347 (GRCm39) N287T probably benign Het
Gpx8 T A 13: 113,179,682 (GRCm39) K206N possibly damaging Het
Iqgap3 G T 3: 88,004,293 (GRCm39) V460F probably benign Het
Kcne4 A T 1: 78,795,651 (GRCm39) M100L probably benign Het
Kmt2a A T 9: 44,721,077 (GRCm39) probably benign Het
Ktn1 G A 14: 47,962,387 (GRCm39) W1117* probably null Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lmln T G 16: 32,930,220 (GRCm39) I559S probably benign Het
Mapk4 A T 18: 74,063,609 (GRCm39) F538I possibly damaging Het
Mlxipl A G 5: 135,166,253 (GRCm39) probably benign Het
Mmrn1 T C 6: 60,921,570 (GRCm39) L9P probably damaging Het
Mnat1 G A 12: 73,228,601 (GRCm39) R155H probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Naaladl1 T C 19: 6,165,581 (GRCm39) L745P probably damaging Het
Obsl1 A T 1: 75,467,546 (GRCm39) D1409E probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Pla2g4e A T 2: 120,013,194 (GRCm39) H375Q probably benign Het
Prodh2 G A 7: 30,205,877 (GRCm39) V238M probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm39) M1010K probably damaging Het
Ros1 A G 10: 52,038,800 (GRCm39) probably null Het
Sim1 A T 10: 50,857,708 (GRCm39) D486V probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Src A G 2: 157,306,573 (GRCm39) D192G probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tmem145 A G 7: 25,006,554 (GRCm39) Y54C probably damaging Het
Try4 C T 6: 41,281,905 (GRCm39) P164S possibly damaging Het
Other mutations in Vegfc
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5963:Vegfc UTSW 8 54,634,319 (GRCm39) missense probably benign
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'- GCCTGGCTCAGCAGGATTTTATC -3'
(R):5'- AAATTCCCTGTTGGCTCCAC -3'

Sequencing Primer
(F):5'- GCTCAGCAGGATTTTATCTTTTATTC -3'
(R):5'- CCTGTTGGCTCCACATGAATTAGG -3'
Posted On 2015-07-07