Incidental Mutation 'R3155:Kdr'
ID 263456
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
MMRRC Submission 040606-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3155 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 76093487-76139118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76129065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 194 (I194F)
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: I194F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: I194F

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
Meta Mutation Damage Score 0.1044 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
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
4933407L21Rik T C 1: 85,859,104 (GRCm39) probably benign Het
Aco1 T C 4: 40,182,915 (GRCm39) V487A probably damaging Het
Adh1 A G 3: 137,986,250 (GRCm39) E79G probably damaging Het
Aebp1 A G 11: 5,821,425 (GRCm39) N608S probably benign Het
Ahctf1 G A 1: 179,583,148 (GRCm39) R43C probably damaging Het
Ahnak A T 19: 8,987,541 (GRCm39) I2942L possibly damaging Het
Anxa9 A T 3: 95,209,716 (GRCm39) D134E probably benign Het
Ccdc14 A G 16: 34,544,222 (GRCm39) D860G probably damaging Het
Cdhr3 T A 12: 33,099,152 (GRCm39) I480F possibly damaging Het
Cldn34a C T X: 151,346,840 (GRCm39) H171Y probably benign Het
Cyp2d9 T A 15: 82,336,843 (GRCm39) probably null Het
Dmbt1 T A 7: 130,651,887 (GRCm39) Y376* probably null Het
Fancm T C 12: 65,163,195 (GRCm39) I1453T probably benign Het
Fbxw11 A G 11: 32,689,244 (GRCm39) I456V possibly damaging Het
Fut2 A T 7: 45,300,091 (GRCm39) L227Q probably damaging Het
Gbp5 T C 3: 142,208,888 (GRCm39) probably null Het
Glrp1 C A 1: 88,430,976 (GRCm39) Q131H unknown Het
Gm6871 T C 7: 41,223,079 (GRCm39) N3S probably benign Het
H2-Eb1 C A 17: 34,533,348 (GRCm39) T190K probably damaging Het
Klhdc7a A G 4: 139,694,500 (GRCm39) V149A probably benign Het
Lrit3 A G 3: 129,585,044 (GRCm39) F238S probably benign Het
Map10 A T 8: 126,398,313 (GRCm39) I569F possibly damaging Het
Myh6 A G 14: 55,182,125 (GRCm39) I1761T probably damaging Het
Npc1l1 A C 11: 6,171,840 (GRCm39) D874E probably benign Het
Or4k15c T C 14: 50,321,982 (GRCm39) D52G probably benign Het
Or8c17 T A 9: 38,179,836 (GRCm39) M1K probably null Het
Pawr A G 10: 108,245,370 (GRCm39) T193A probably benign Het
Ppp2r3d T C 9: 101,089,559 (GRCm39) K255E possibly damaging Het
Rbp3 A T 14: 33,679,071 (GRCm39) K1006N probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,771 (GRCm39) K489R probably benign Het
Rlf A G 4: 121,006,529 (GRCm39) V817A probably damaging Het
Rusc1 T C 3: 88,999,038 (GRCm39) D248G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Stk4 T A 2: 163,993,663 (GRCm39) M98K probably benign Het
Taf15 T A 11: 83,393,599 (GRCm39) H307Q probably benign Het
Urgcp A T 11: 5,666,327 (GRCm39) F670L probably damaging Het
Vmn2r76 T C 7: 85,874,959 (GRCm39) T673A probably damaging Het
Zfp324 G A 7: 12,702,817 (GRCm39) M60I probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGAGGAGAAACCCCAGTTGC -3'
(R):5'- AGGGTCAACAGCACATTAAAAGTC -3'

Sequencing Primer
(F):5'- GAGAAACCCCAGTTGCAATAGTTTG -3'
(R):5'- GTCAAACCAACTTATGTTCTTGAAAG -3'
Posted On 2015-02-05