|Institutional Source||Beutler Lab|
|Gene Name||kinase insert domain protein receptor|
|Synonyms||Flk1, vascular endothelial growth factor receptor- 2, VEGF receptor-2, VEGFR2, VEGFR-2, Flk-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2238 (G1)|
|Chromosomal Location||75932827-75978458 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75949519 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 936 (Y936F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109144 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113516]|
|Predicted Effect||possibly damaging
AA Change: Y936F
PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: Y936F
|Meta Mutation Damage Score||0.1317|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mice die at early embryonic stages due to failure of blood vessel formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kdr||
(F):5'- GTGGGTCAAGAGATTTAAAGTCC -3'
(R):5'- AGGTAGCCTTCTAGTGTGCAG -3'
(F):5'- GGAGCATACAATCCCTAGAA -3'
(R):5'- AGCCTTCTAGTGTGCAGTTTTG -3'