Incidental Mutation 'R4687:Kdr'
ID 353745
Institutional Source Beutler Lab
Gene Symbol Kdr
Ensembl Gene ENSMUSG00000062960
Gene Name kinase insert domain protein receptor
Synonyms Flk1, vascular endothelial growth factor receptor- 2, VEGF receptor-2, VEGFR2, VEGFR-2, Flk-1
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 75932827-75978458 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75968792 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 145 (N145S)
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: N145S

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: N145S

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: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 8,992,153 (GRCm38) Y45N probably damaging Het
Agbl3 T C 6: 34,798,326 (GRCm38) V189A probably damaging Het
Akip1 C A 7: 109,704,986 (GRCm38) S90* probably null Het
Amn A T 12: 111,276,068 (GRCm38) D439V probably benign Het
Arhgap17 T A 7: 123,321,603 (GRCm38) D149V probably damaging Het
Atp6v0a4 A T 6: 38,092,465 (GRCm38) I76N possibly damaging Het
Atp6v1h A T 1: 5,133,085 (GRCm38) N291I probably damaging Het
Baiap2l2 G T 15: 79,259,253 (GRCm38) P462T probably damaging Het
Bves C T 10: 45,354,840 (GRCm38) probably null Het
Cabp7 T A 11: 4,739,265 (GRCm38) K127* probably null Het
Cacna1h A G 17: 25,393,910 (GRCm38) V313A possibly damaging Het
Camkk2 T C 5: 122,753,724 (GRCm38) H245R probably damaging Het
Celsr1 T A 15: 85,932,460 (GRCm38) S1761C possibly damaging Het
Cfap46 T C 7: 139,627,456 (GRCm38) E1849G possibly damaging Het
Ciz1 T C 2: 32,367,465 (GRCm38) L174P probably damaging Het
Crim1 G T 17: 78,303,025 (GRCm38) C303F probably damaging Het
Cyp26c1 A G 19: 37,692,937 (GRCm38) Q396R probably damaging Het
Dnajc7 G A 11: 100,599,300 (GRCm38) P43L probably damaging Het
Dpf2 T C 19: 5,907,012 (GRCm38) H16R probably damaging Het
Dsp A G 13: 38,191,619 (GRCm38) T1127A probably damaging Het
Dst T C 1: 34,201,123 (GRCm38) L1525P probably damaging Het
Ehf T A 2: 103,267,126 (GRCm38) D192V probably damaging Het
Frem1 G T 4: 83,020,631 (GRCm38) N71K probably damaging Het
Furin T A 7: 80,393,447 (GRCm38) T339S probably benign Het
Gad1 T A 2: 70,600,720 (GRCm38) I569N possibly damaging Het
Gfi1 T C 5: 107,723,810 (GRCm38) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm38) noncoding transcript Homo
Gpn3 A C 5: 122,378,575 (GRCm38) D89A possibly damaging Het
Gpr18 T A 14: 121,911,678 (GRCm38) R312* probably null Het
Gsap T C 5: 21,246,971 (GRCm38) probably benign Het
H2-Ab1 C A 17: 34,264,809 (GRCm38) T48K probably damaging Het
Hmcn2 A T 2: 31,438,285 (GRCm38) N4326I probably benign Het
Igkv4-51 A C 6: 69,681,730 (GRCm38) probably benign Het
Insr T C 8: 3,161,709 (GRCm38) H1104R probably benign Het
Ipo13 A T 4: 117,901,576 (GRCm38) N697K probably benign Het
Iqcm T G 8: 75,762,989 (GRCm38) F362V probably damaging Het
Irak4 T C 15: 94,566,823 (GRCm38) S425P probably damaging Het
Jakmip2 T C 18: 43,577,412 (GRCm38) E242G possibly damaging Het
Kdm4a T C 4: 118,144,083 (GRCm38) K829R probably damaging Het
Klra9 A T 6: 130,185,517 (GRCm38) D185E probably benign Het
Lcn12 T C 2: 25,493,321 (GRCm38) N15S probably benign Het
Mei4 T A 9: 81,927,317 (GRCm38) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm38) S320T probably benign Het
Mrps5 C G 2: 127,590,770 (GRCm38) A37G probably benign Het
Mttp A G 3: 138,092,735 (GRCm38) I800T possibly damaging Het
Nags A T 11: 102,148,196 (GRCm38) Q451L probably damaging Het
Nbea T C 3: 56,058,065 (GRCm38) T476A probably damaging Het
Ndufb10 T C 17: 24,722,419 (GRCm38) E145G possibly damaging Het
Neb T G 2: 52,304,035 (GRCm38) S660R possibly damaging Het
Nppb A G 4: 147,986,296 (GRCm38) K43E probably benign Het
Nup188 A T 2: 30,330,633 (GRCm38) Q906L probably benign Het
Olfr1259 T C 2: 89,943,869 (GRCm38) D82G probably damaging Het
Olfr1413 T C 1: 92,573,330 (GRCm38) I53T possibly damaging Het
Olfr370 T A 8: 83,541,860 (GRCm38) S239T probably damaging Het
Olfr895 C A 9: 38,269,414 (GRCm38) N292K probably damaging Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Palm3 A G 8: 84,029,935 (GRCm38) E692G probably benign Het
Pcsk6 T C 7: 65,983,753 (GRCm38) F578L probably damaging Het
Piezo2 A C 18: 63,069,963 (GRCm38) D1535E probably damaging Het
Ppp1r15b T C 1: 133,132,135 (GRCm38) V130A probably benign Het
Proca1 T C 11: 78,204,898 (GRCm38) Y32H probably damaging Het
Prtg T A 9: 72,890,798 (GRCm38) V682E probably damaging Het
Pyroxd1 A T 6: 142,361,868 (GRCm38) M455L probably benign Het
Rasa1 T C 13: 85,226,635 (GRCm38) D739G possibly damaging Het
Scn3a T C 2: 65,464,730 (GRCm38) I1550V possibly damaging Het
Sepsecs T C 5: 52,643,871 (GRCm38) D483G probably benign Het
Setd7 T C 3: 51,550,355 (GRCm38) D17G probably damaging Het
Sipa1l2 C T 8: 125,491,245 (GRCm38) C451Y probably damaging Het
Slc31a1 A G 4: 62,388,702 (GRCm38) Y165C probably damaging Het
Smg5 T C 3: 88,342,469 (GRCm38) F68L possibly damaging Het
Sptbn5 A G 2: 120,077,208 (GRCm38) probably benign Het
Stk3 A G 15: 35,114,565 (GRCm38) I65T probably damaging Het
Tas2r115 C T 6: 132,737,284 (GRCm38) A235T possibly damaging Het
Tenm2 C T 11: 36,049,097 (GRCm38) A1400T probably benign Het
Tet1 T A 10: 62,838,791 (GRCm38) N1169Y probably benign Het
Treml2 T A 17: 48,309,397 (GRCm38) probably null Het
Tspan11 A G 6: 127,938,235 (GRCm38) E104G probably damaging Het
Wdtc1 G A 4: 133,296,431 (GRCm38) A543V probably damaging Het
Zfp148 T A 16: 33,496,819 (GRCm38) D578E probably damaging Het
Zfp735 A T 11: 73,711,856 (GRCm38) N542I probably damaging Het
Zfp735 A T 11: 73,711,855 (GRCm38) N542Y probably damaging Het
Zfp869 T A 8: 69,708,143 (GRCm38) E65D probably benign Het
Other mutations in Kdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Kdr APN 5 75,968,750 (GRCm38) missense probably damaging 1.00
IGL01094:Kdr APN 5 75,961,760 (GRCm38) missense probably benign 0.00
IGL01310:Kdr APN 5 75,949,601 (GRCm38) missense probably damaging 1.00
IGL01689:Kdr APN 5 75,936,840 (GRCm38) missense probably benign 0.01
IGL01986:Kdr APN 5 75,952,859 (GRCm38) missense probably benign 0.18
IGL02065:Kdr APN 5 75,961,853 (GRCm38) splice site probably benign
IGL02200:Kdr APN 5 75,950,102 (GRCm38) splice site probably benign
IGL02272:Kdr APN 5 75,961,840 (GRCm38) missense probably benign
IGL02426:Kdr APN 5 75,974,466 (GRCm38) missense probably benign 0.00
IGL02483:Kdr APN 5 75,936,294 (GRCm38) critical splice donor site probably null
IGL02543:Kdr APN 5 75,964,947 (GRCm38) splice site probably benign
IGL02590:Kdr APN 5 75,936,323 (GRCm38) missense probably benign 0.00
IGL03204:Kdr APN 5 75,972,382 (GRCm38) missense possibly damaging 0.96
IGL03228:Kdr APN 5 75,957,048 (GRCm38) missense probably damaging 0.97
IGL03265:Kdr APN 5 75,960,773 (GRCm38) missense probably damaging 1.00
engelein UTSW 5 75,952,889 (GRCm38) missense probably damaging 1.00
PIT4131001:Kdr UTSW 5 75,941,971 (GRCm38) splice site probably benign
PIT4519001:Kdr UTSW 5 75,936,896 (GRCm38) missense possibly damaging 0.86
R0133:Kdr UTSW 5 75,951,838 (GRCm38) missense probably damaging 1.00
R0197:Kdr UTSW 5 75,968,422 (GRCm38) missense possibly damaging 0.82
R0282:Kdr UTSW 5 75,950,100 (GRCm38) splice site probably benign
R0309:Kdr UTSW 5 75,946,927 (GRCm38) splice site probably benign
R0371:Kdr UTSW 5 75,941,834 (GRCm38) missense probably benign 0.22
R0396:Kdr UTSW 5 75,960,728 (GRCm38) missense possibly damaging 0.65
R0498:Kdr UTSW 5 75,959,138 (GRCm38) missense probably benign 0.00
R0932:Kdr UTSW 5 75,968,805 (GRCm38) missense probably benign 0.02
R1077:Kdr UTSW 5 75,956,231 (GRCm38) missense probably damaging 1.00
R1183:Kdr UTSW 5 75,946,851 (GRCm38) missense probably damaging 1.00
R1713:Kdr UTSW 5 75,968,467 (GRCm38) missense probably benign 0.03
R1853:Kdr UTSW 5 75,952,905 (GRCm38) missense possibly damaging 0.67
R1854:Kdr UTSW 5 75,952,905 (GRCm38) missense possibly damaging 0.67
R2142:Kdr UTSW 5 75,968,423 (GRCm38) missense possibly damaging 0.56
R2238:Kdr UTSW 5 75,949,519 (GRCm38) missense possibly damaging 0.78
R2891:Kdr UTSW 5 75,946,836 (GRCm38) missense probably damaging 1.00
R2893:Kdr UTSW 5 75,946,836 (GRCm38) missense probably damaging 1.00
R2894:Kdr UTSW 5 75,946,836 (GRCm38) missense probably damaging 1.00
R2903:Kdr UTSW 5 75,966,409 (GRCm38) missense probably damaging 1.00
R2904:Kdr UTSW 5 75,966,409 (GRCm38) missense probably damaging 1.00
R3155:Kdr UTSW 5 75,968,405 (GRCm38) missense probably benign 0.02
R3939:Kdr UTSW 5 75,972,429 (GRCm38) nonsense probably null
R4051:Kdr UTSW 5 75,968,408 (GRCm38) missense probably benign
R4151:Kdr UTSW 5 75,957,101 (GRCm38) missense possibly damaging 0.94
R4433:Kdr UTSW 5 75,943,925 (GRCm38) missense possibly damaging 0.61
R4691:Kdr UTSW 5 75,944,599 (GRCm38) missense possibly damaging 0.79
R5185:Kdr UTSW 5 75,952,417 (GRCm38) splice site probably null
R5544:Kdr UTSW 5 75,960,743 (GRCm38) nonsense probably null
R6083:Kdr UTSW 5 75,944,366 (GRCm38) missense probably damaging 1.00
R6477:Kdr UTSW 5 75,968,841 (GRCm38) missense probably benign 0.02
R6568:Kdr UTSW 5 75,961,774 (GRCm38) missense probably benign 0.01
R6647:Kdr UTSW 5 75,952,889 (GRCm38) missense probably damaging 1.00
R6827:Kdr UTSW 5 75,944,545 (GRCm38) missense probably damaging 1.00
R6887:Kdr UTSW 5 75,968,451 (GRCm38) missense probably benign 0.00
R6929:Kdr UTSW 5 75,978,104 (GRCm38) missense probably benign 0.16
R6993:Kdr UTSW 5 75,972,411 (GRCm38) missense probably benign
R7022:Kdr UTSW 5 75,972,260 (GRCm38) nonsense probably null
R7050:Kdr UTSW 5 75,950,120 (GRCm38) missense probably damaging 1.00
R7099:Kdr UTSW 5 75,944,333 (GRCm38) missense probably damaging 0.98
R7274:Kdr UTSW 5 75,964,700 (GRCm38) missense probably benign 0.00
R7310:Kdr UTSW 5 75,944,325 (GRCm38) missense probably damaging 0.99
R7565:Kdr UTSW 5 75,948,843 (GRCm38) missense probably damaging 0.97
R9067:Kdr UTSW 5 75,948,768 (GRCm38) missense probably damaging 1.00
R9448:Kdr UTSW 5 75,941,909 (GRCm38) missense probably benign 0.03
R9564:Kdr UTSW 5 75,964,905 (GRCm38) missense probably benign 0.00
R9655:Kdr UTSW 5 75,961,828 (GRCm38) missense probably benign
R9691:Kdr UTSW 5 75,968,861 (GRCm38) missense probably damaging 1.00
R9799:Kdr UTSW 5 75,957,092 (GRCm38) missense possibly damaging 0.72
X0024:Kdr UTSW 5 75,974,406 (GRCm38) missense probably damaging 1.00
Z1177:Kdr UTSW 5 75,968,475 (GRCm38) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- AATGTGCTGTTGACCCTCCC -3'
(R):5'- CAGACTAGCCTGTGGATGTC -3'

Sequencing Primer
(F):5'- CCTATGGGAGCTTTGTAATTCAC -3'
(R):5'- TCATGCAAGTTGTCAATGATAGCC -3'
Posted On 2015-10-21