Incidental Mutation 'R4051:Kdr'
ID 314154
Institutional Source Beutler Lab
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 # R4051 ()
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 76093487-76139118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76129068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 193 (M193L)
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: M193L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: M193L

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ahnak A C 19: 8,991,691 (GRCm39) D4325A probably damaging Het
Chtf18 A G 17: 25,938,168 (GRCm39) V955A probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Disc1 A G 8: 125,875,164 (GRCm39) T547A possibly damaging Het
Eif4b A G 15: 101,995,039 (GRCm39) Y211C probably benign Het
Fli1 T G 9: 32,363,458 (GRCm39) D176A probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Ice1 A G 13: 70,751,646 (GRCm39) V1480A probably damaging Het
Ier5l A C 2: 30,363,324 (GRCm39) S234A probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Itga11 C T 9: 62,662,933 (GRCm39) Q550* probably null Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Or52m1 T C 7: 102,290,233 (GRCm39) V260A possibly damaging Het
Peg10 T C 6: 4,754,534 (GRCm39) L105P probably benign Het
Phtf1 A G 3: 103,912,824 (GRCm39) T717A possibly damaging Het
Ptafr T C 4: 132,307,305 (GRCm39) W232R probably benign Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Slamf7 T C 1: 171,464,951 (GRCm39) K261E possibly damaging Het
Slc9c1 T A 16: 45,363,593 (GRCm39) Y120N probably damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tbc1d9b T C 11: 50,062,070 (GRCm39) C1210R probably benign Het
Tnfsf10 T A 3: 27,389,503 (GRCm39) I188N probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Usp46 T C 5: 74,163,416 (GRCm39) N283S probably benign Het
Vmn2r84 T G 10: 130,226,767 (GRCm39) N357T probably damaging Het
Zfp217 T C 2: 169,954,536 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAGGAGAAACCCCAGTTGC -3'
(R):5'- AGGGTCAACAGCACATTAAAAGTC -3'

Sequencing Primer
(F):5'- GAGAAACCCCAGTTGCAATAGTTTG -3'
(R):5'- GTCAAACCAACTTATGTTCTTGAAAG -3'
Posted On 2015-04-30