Incidental Mutation 'IGL02065:Kdr'
ID 185619
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 # IGL02065
Quality Score
Status
Chromosome 5
Chromosomal Location 76093487-76139118 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 76122513 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 benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202473
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
Abcc10 C T 17: 46,623,827 (GRCm39) E770K possibly damaging Het
Abhd17a C A 10: 80,422,395 (GRCm39) A22S probably benign Het
Actbl2 A G 13: 111,392,225 (GRCm39) T187A probably benign Het
Adgrl3 G A 5: 81,660,064 (GRCm39) G278R probably damaging Het
Apoh C A 11: 108,305,131 (GRCm39) probably benign Het
Atp2b2 A G 6: 113,790,828 (GRCm39) F192S probably damaging Het
Bdh1 T C 16: 31,268,754 (GRCm39) I163T possibly damaging Het
Bmp1 G T 14: 70,723,660 (GRCm39) N725K probably damaging Het
Bmp1 T A 14: 70,727,547 (GRCm39) I679F probably damaging Het
Bmp2 T A 2: 133,402,844 (GRCm39) F132I probably benign Het
Bpifb5 T C 2: 154,069,103 (GRCm39) L140P probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil3 T C 14: 55,731,279 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,586 (GRCm39) T730A possibly damaging Het
Cdh10 G T 15: 19,013,342 (GRCm39) K647N probably damaging Het
Cdh17 A C 4: 11,771,373 (GRCm39) probably benign Het
Cep126 A G 9: 8,099,925 (GRCm39) S870P probably benign Het
Col6a4 T C 9: 105,954,302 (GRCm39) T346A probably damaging Het
Csmd3 A C 15: 47,530,024 (GRCm39) V2592G probably damaging Het
Dnajc16 A T 4: 141,504,244 (GRCm39) F239I probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
F5 G A 1: 164,017,695 (GRCm39) V591M probably damaging Het
Fchsd2 T G 7: 100,826,429 (GRCm39) probably null Het
Flad1 A T 3: 89,316,294 (GRCm39) D89E probably damaging Het
Fsd1 C A 17: 56,303,499 (GRCm39) P457Q probably damaging Het
Gm21985 A G 2: 112,187,929 (GRCm39) D1012G possibly damaging Het
Gon4l A G 3: 88,764,517 (GRCm39) D366G probably null Het
Hadha A G 5: 30,347,843 (GRCm39) probably benign Het
Kyat3 A G 3: 142,426,136 (GRCm39) K24R probably benign Het
Map3k21 A G 8: 126,668,397 (GRCm39) D661G probably benign Het
Mical1 A T 10: 41,360,407 (GRCm39) K615N possibly damaging Het
Ncor1 T C 11: 62,310,435 (GRCm39) K204E possibly damaging Het
Nmral1 T A 16: 4,534,346 (GRCm39) I32F probably benign Het
Nrros T C 16: 31,963,492 (GRCm39) D175G possibly damaging Het
Or10ak8 G A 4: 118,773,968 (GRCm39) T232I probably benign Het
Or12j5 T C 7: 140,084,077 (GRCm39) I98M probably benign Het
Ryr2 A G 13: 11,587,143 (GRCm39) F4713L possibly damaging Het
Serpinb1b G A 13: 33,275,301 (GRCm39) G142D possibly damaging Het
Slc10a1 A G 12: 81,007,248 (GRCm39) S178P possibly damaging Het
Spint1 G A 2: 119,068,698 (GRCm39) R144H probably benign Het
Sult6b1 C T 17: 79,196,504 (GRCm39) G213R probably damaging Het
Themis3 G T 17: 66,862,900 (GRCm39) H353N probably benign Het
Tpr T C 1: 150,289,525 (GRCm39) S619P probably benign Het
Ttn A T 2: 76,645,134 (GRCm39) V11161E probably damaging Het
Usp13 G A 3: 32,987,314 (GRCm39) V837I probably damaging Het
Usp25 T C 16: 76,880,670 (GRCm39) V677A probably benign Het
Wdr62 A G 7: 29,942,894 (GRCm39) V1001A possibly damaging Het
Whrn A T 4: 63,336,822 (GRCm39) I580N possibly damaging Het
Wls T A 3: 159,616,993 (GRCm39) V344D probably damaging Het
Zan A T 5: 137,385,222 (GRCm39) Y5070* probably null 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
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
IGL02483:Kdr APN 5 76,096,954 (GRCm39) critical splice donor site probably null
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 2014-05-07