Incidental Mutation 'R2238:Kdr'
ID 240225
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 040238-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2238 (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 76110179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 936 (Y936F)
Ref Sequence ENSEMBL: ENSMUSP00000109144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113516]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000113516
AA Change: Y936F

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: Y936F

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
Meta Mutation Damage Score 0.1317 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (59/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,246,469 (GRCm39) V5E possibly damaging Het
Acaca T C 11: 84,282,331 (GRCm39) probably benign Het
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Bmi1 T C 2: 18,688,225 (GRCm39) probably benign Het
Carf T C 1: 60,187,193 (GRCm39) S599P probably benign Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Clca3a1 T A 3: 144,457,766 (GRCm39) I373F possibly damaging Het
Clnk A G 5: 38,921,694 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Dact2 A T 17: 14,417,312 (GRCm39) L296Q probably damaging Het
Dctn2 C T 10: 127,112,257 (GRCm39) T123I probably damaging Het
Deup1 A C 9: 15,486,597 (GRCm39) I455S probably damaging Het
Dnmbp A G 19: 43,857,303 (GRCm39) V957A possibly damaging Het
Emilin2 T C 17: 71,581,734 (GRCm39) R331G possibly damaging Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Gcc1 A G 6: 28,420,462 (GRCm39) V285A probably benign Het
Gopc T C 10: 52,229,499 (GRCm39) H188R probably damaging Het
Herc6 A G 6: 57,631,386 (GRCm39) N693D probably benign Het
Hipk2 A G 6: 38,706,850 (GRCm39) probably benign Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ints1 G A 5: 139,750,955 (GRCm39) T814M possibly damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Ly6k T C 15: 74,669,018 (GRCm39) E87G probably benign Het
Lyst A G 13: 13,917,848 (GRCm39) N3303D probably benign Het
Mindy4 T C 6: 55,278,055 (GRCm39) F633S probably damaging Het
Msl2 T A 9: 100,978,569 (GRCm39) N314K probably benign Het
Ncapd3 A G 9: 26,978,320 (GRCm39) T840A probably benign Het
Neil3 T C 8: 54,052,311 (GRCm39) D429G possibly damaging Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Nt5c1b A G 12: 10,440,108 (GRCm39) Y550C probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Pabpc4l A C 3: 46,401,137 (GRCm39) V169G probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Pik3cb A G 9: 98,923,081 (GRCm39) Y984H probably damaging Het
Ptprz1 A T 6: 22,987,376 (GRCm39) Q387L probably damaging Het
Rassf8 T C 6: 145,762,910 (GRCm39) V419A probably damaging Het
Rnf148 T C 6: 23,654,345 (GRCm39) Y217C probably benign Het
Sec24d T A 3: 123,143,543 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,761 (GRCm39) V50A probably benign Het
Sgcd T C 11: 47,023,509 (GRCm39) N99D possibly damaging Het
Sncaip T C 18: 53,001,619 (GRCm39) S47P probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Srcin1 T C 11: 97,425,645 (GRCm39) T471A probably benign Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tcaf3 A G 6: 42,570,262 (GRCm39) Y497H probably benign Het
Tmem40 C T 6: 115,708,038 (GRCm39) W150* probably null Het
Tmem59l T C 8: 70,937,772 (GRCm39) T203A probably damaging Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Vmn1r204 A G 13: 22,740,993 (GRCm39) H208R probably benign Het
Vmn2r98 T A 17: 19,286,213 (GRCm39) M237K 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
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
Predicted Primers PCR Primer
(F):5'- GTGGGTCAAGAGATTTAAAGTCC -3'
(R):5'- AGGTAGCCTTCTAGTGTGCAG -3'

Sequencing Primer
(F):5'- GGAGCATACAATCCCTAGAA -3'
(R):5'- AGCCTTCTAGTGTGCAGTTTTG -3'
Posted On 2014-10-15