Incidental Mutation 'IGL02483:Kdr'
ID 295330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdr
Ensembl Gene ENSMUSG00000062960
Gene Name kinase insert domain protein receptor
Synonyms orv, Flk-1, vascular endothelial growth factor receptor- 2, Flk1, VEGF receptor-2, VEGFR-2, VEGFR2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02483
Quality Score
Status
Chromosome 5
Chromosomal Location 76093487-76139118 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 76096954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113516]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000113516
SMART Domains Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960

DomainStartEndE-ValueType
IG 38 121 2.43e-2 SMART
IG_like 137 220 5.91e1 SMART
IG 233 327 2.64e-12 SMART
IG 339 420 1.2e-6 SMART
IG 432 546 2.14e0 SMART
IG 554 657 2.79e-2 SMART
IGc2 677 742 8.42e-20 SMART
TyrKc 832 1158 7.07e-138 SMART
low complexity region 1310 1315 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Other mutations in Kdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Kdr APN 5 76,129,410 (GRCm39) missense probably damaging 1.00
IGL01094:Kdr APN 5 76,122,420 (GRCm39) missense probably benign 0.00
IGL01310:Kdr APN 5 76,110,261 (GRCm39) missense probably damaging 1.00
IGL01689:Kdr APN 5 76,097,500 (GRCm39) missense probably benign 0.01
IGL01986:Kdr APN 5 76,113,519 (GRCm39) missense probably benign 0.18
IGL02065:Kdr APN 5 76,122,513 (GRCm39) splice site probably benign
IGL02200:Kdr APN 5 76,110,762 (GRCm39) splice site probably benign
IGL02272:Kdr APN 5 76,122,500 (GRCm39) missense probably benign
IGL02426:Kdr APN 5 76,135,126 (GRCm39) missense probably benign 0.00
IGL02543:Kdr APN 5 76,125,607 (GRCm39) splice site probably benign
IGL02590:Kdr APN 5 76,096,983 (GRCm39) missense probably benign 0.00
IGL03204:Kdr APN 5 76,133,042 (GRCm39) missense possibly damaging 0.96
IGL03228:Kdr APN 5 76,117,708 (GRCm39) missense probably damaging 0.97
IGL03265:Kdr APN 5 76,121,433 (GRCm39) missense probably damaging 1.00
engelein UTSW 5 76,113,549 (GRCm39) missense probably damaging 1.00
PIT4131001:Kdr UTSW 5 76,102,631 (GRCm39) splice site probably benign
PIT4519001:Kdr UTSW 5 76,097,556 (GRCm39) missense possibly damaging 0.86
R0133:Kdr UTSW 5 76,112,498 (GRCm39) missense probably damaging 1.00
R0197:Kdr UTSW 5 76,129,082 (GRCm39) missense possibly damaging 0.82
R0282:Kdr UTSW 5 76,110,760 (GRCm39) splice site probably benign
R0309:Kdr UTSW 5 76,107,587 (GRCm39) splice site probably benign
R0371:Kdr UTSW 5 76,102,494 (GRCm39) missense probably benign 0.22
R0396:Kdr UTSW 5 76,121,388 (GRCm39) missense possibly damaging 0.65
R0498:Kdr UTSW 5 76,119,798 (GRCm39) missense probably benign 0.00
R0932:Kdr UTSW 5 76,129,465 (GRCm39) missense probably benign 0.02
R1077:Kdr UTSW 5 76,116,891 (GRCm39) missense probably damaging 1.00
R1183:Kdr UTSW 5 76,107,511 (GRCm39) missense probably damaging 1.00
R1713:Kdr UTSW 5 76,129,127 (GRCm39) missense probably benign 0.03
R1853:Kdr UTSW 5 76,113,565 (GRCm39) missense possibly damaging 0.67
R1854:Kdr UTSW 5 76,113,565 (GRCm39) missense possibly damaging 0.67
R2142:Kdr UTSW 5 76,129,083 (GRCm39) missense possibly damaging 0.56
R2238:Kdr UTSW 5 76,110,179 (GRCm39) missense possibly damaging 0.78
R2891:Kdr UTSW 5 76,107,496 (GRCm39) missense probably damaging 1.00
R2893:Kdr UTSW 5 76,107,496 (GRCm39) missense probably damaging 1.00
R2894:Kdr UTSW 5 76,107,496 (GRCm39) missense probably damaging 1.00
R2903:Kdr UTSW 5 76,127,069 (GRCm39) missense probably damaging 1.00
R2904:Kdr UTSW 5 76,127,069 (GRCm39) missense probably damaging 1.00
R3155:Kdr UTSW 5 76,129,065 (GRCm39) missense probably benign 0.02
R3939:Kdr UTSW 5 76,133,089 (GRCm39) nonsense probably null
R4051:Kdr UTSW 5 76,129,068 (GRCm39) missense probably benign
R4151:Kdr UTSW 5 76,117,761 (GRCm39) missense possibly damaging 0.94
R4433:Kdr UTSW 5 76,104,585 (GRCm39) missense possibly damaging 0.61
R4687:Kdr UTSW 5 76,129,452 (GRCm39) missense possibly damaging 0.81
R4691:Kdr UTSW 5 76,105,259 (GRCm39) missense possibly damaging 0.79
R5185:Kdr UTSW 5 76,113,077 (GRCm39) splice site probably null
R5544:Kdr UTSW 5 76,121,403 (GRCm39) nonsense probably null
R6083:Kdr UTSW 5 76,105,026 (GRCm39) missense probably damaging 1.00
R6477:Kdr UTSW 5 76,129,501 (GRCm39) missense probably benign 0.02
R6568:Kdr UTSW 5 76,122,434 (GRCm39) missense probably benign 0.01
R6647:Kdr UTSW 5 76,113,549 (GRCm39) missense probably damaging 1.00
R6827:Kdr UTSW 5 76,105,205 (GRCm39) missense probably damaging 1.00
R6887:Kdr UTSW 5 76,129,111 (GRCm39) missense probably benign 0.00
R6929:Kdr UTSW 5 76,138,764 (GRCm39) missense probably benign 0.16
R6993:Kdr UTSW 5 76,133,071 (GRCm39) missense probably benign
R7022:Kdr UTSW 5 76,132,920 (GRCm39) nonsense probably null
R7050:Kdr UTSW 5 76,110,780 (GRCm39) missense probably damaging 1.00
R7099:Kdr UTSW 5 76,104,993 (GRCm39) missense probably damaging 0.98
R7274:Kdr UTSW 5 76,125,360 (GRCm39) missense probably benign 0.00
R7310:Kdr UTSW 5 76,104,985 (GRCm39) missense probably damaging 0.99
R7565:Kdr UTSW 5 76,109,503 (GRCm39) missense probably damaging 0.97
R9067:Kdr UTSW 5 76,109,428 (GRCm39) missense probably damaging 1.00
R9448:Kdr UTSW 5 76,102,569 (GRCm39) missense probably benign 0.03
R9564:Kdr UTSW 5 76,125,565 (GRCm39) missense probably benign 0.00
R9655:Kdr UTSW 5 76,122,488 (GRCm39) missense probably benign
R9691:Kdr UTSW 5 76,129,521 (GRCm39) missense probably damaging 1.00
R9799:Kdr UTSW 5 76,117,752 (GRCm39) missense possibly damaging 0.72
X0024:Kdr UTSW 5 76,135,066 (GRCm39) missense probably damaging 1.00
Z1177:Kdr UTSW 5 76,129,135 (GRCm39) missense probably benign 0.35
Posted On 2015-04-16