Incidental Mutation 'IGL01986:Kdr'
ID 181930
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 # IGL01986
Quality Score
Status
Chromosome 5
Chromosomal Location 76093487-76139118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76113519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 783 (V783A)
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
AA Change: V783A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: V783A

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: 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,282,956 (GRCm39) I245F possibly damaging Het
Abca3 G A 17: 24,627,088 (GRCm39) G1263D probably damaging Het
Arap2 A T 5: 62,779,265 (GRCm39) S1442T probably damaging Het
Arl15 C A 13: 114,058,902 (GRCm39) S56R possibly damaging Het
Ccdc38 A T 10: 93,415,705 (GRCm39) N415Y probably damaging Het
Ccny G A 18: 9,377,817 (GRCm39) R81C probably damaging Het
Cracd T A 5: 77,006,457 (GRCm39) S939R unknown Het
Csmd3 T C 15: 47,522,591 (GRCm39) T2693A possibly damaging Het
Fancm C T 12: 65,173,429 (GRCm39) Q1914* probably null Het
Fcsk T C 8: 111,609,889 (GRCm39) T1042A probably benign Het
Gm18856 G A 13: 14,139,413 (GRCm39) probably benign Het
Gramd1a A T 7: 30,833,434 (GRCm39) L610Q possibly damaging Het
Hsd17b4 C A 18: 50,293,193 (GRCm39) probably benign Het
Hspa12a A G 19: 58,787,834 (GRCm39) S663P probably benign Het
Insr C T 8: 3,208,817 (GRCm39) V1215I probably damaging Het
Klhl9 T C 4: 88,640,016 (GRCm39) D75G probably damaging Het
Lmntd1 A G 6: 145,365,533 (GRCm39) S53P probably damaging Het
Lrrc41 T A 4: 115,946,519 (GRCm39) F411L probably benign Het
Lyst G A 13: 13,950,212 (GRCm39) probably null Het
Mmp17 A G 5: 129,673,692 (GRCm39) H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 (GRCm38) R154Q probably damaging Het
Or10ag2 A G 2: 87,248,880 (GRCm39) I163V probably benign Het
Or2b4 A G 17: 38,116,957 (GRCm39) K307R probably damaging Het
Or4p21 C T 2: 88,276,839 (GRCm39) V148I probably benign Het
Or8s16 T C 15: 98,210,660 (GRCm39) Y257C probably damaging Het
Pcsk6 G A 7: 65,577,625 (GRCm39) R60H probably damaging Het
Polk T C 13: 96,620,331 (GRCm39) D623G probably benign Het
Rlf A T 4: 121,005,303 (GRCm39) C1226S probably damaging Het
Rpa2 C T 4: 132,499,191 (GRCm39) P87S probably benign Het
Rpa2 C T 4: 132,499,192 (GRCm39) P87L probably benign Het
Sema5a T C 15: 32,682,506 (GRCm39) probably benign Het
Sis A T 3: 72,852,545 (GRCm39) M529K probably damaging Het
Sspo T C 6: 48,460,237 (GRCm39) M3375T probably benign Het
Syne3 A T 12: 104,934,259 (GRCm39) L83Q probably damaging Het
Tec A T 5: 72,939,348 (GRCm39) Y222* probably null Het
Tfap2d C T 1: 19,189,383 (GRCm39) probably benign Het
Trak1 G A 9: 121,302,033 (GRCm39) A930T probably benign Het
Ugt2b34 G T 5: 87,049,111 (GRCm39) H305N probably benign Het
Vmn2r95 A G 17: 18,660,473 (GRCm39) N295S 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
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
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