Incidental Mutation 'IGL02483:Kdr'
ID |
295330 |
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)
|
Stock # |
IGL02483
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 76096954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109144
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113516]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000113516
|
SMART Domains |
Protein: ENSMUSP00000109144 Gene: ENSMUSG00000062960
Domain | Start | End | E-Value | Type |
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
G |
8: 84,451,882 (GRCm39) |
I512L |
probably damaging |
Het |
Ahnak |
C |
A |
19: 8,980,672 (GRCm39) |
T652N |
probably benign |
Het |
Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,900,605 (GRCm39) |
H659L |
probably damaging |
Het |
Cad |
A |
G |
5: 31,218,170 (GRCm39) |
|
probably null |
Het |
Car6 |
T |
A |
4: 150,280,586 (GRCm39) |
N86I |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
Cyp2c39 |
T |
A |
19: 39,525,231 (GRCm39) |
I178N |
probably damaging |
Het |
Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,635,990 (GRCm39) |
V54A |
possibly damaging |
Het |
Foxd3 |
C |
T |
4: 99,545,265 (GRCm39) |
S135F |
probably damaging |
Het |
Fut7 |
T |
A |
2: 25,313,888 (GRCm39) |
F21Y |
possibly damaging |
Het |
Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
Gm4950 |
A |
T |
18: 51,998,406 (GRCm39) |
M183K |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
Hpd |
A |
T |
5: 123,320,641 (GRCm39) |
|
probably null |
Het |
Imp4 |
T |
C |
1: 34,483,356 (GRCm39) |
|
probably null |
Het |
Itgbl1 |
A |
T |
14: 124,065,155 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,267,731 (GRCm39) |
|
probably benign |
Het |
Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,349,318 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
A |
G |
1: 20,873,796 (GRCm39) |
S775P |
possibly damaging |
Het |
Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
Nbas |
C |
T |
12: 13,374,295 (GRCm39) |
A541V |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
Oma1 |
C |
T |
4: 103,182,309 (GRCm39) |
R271* |
probably null |
Het |
Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
Or4c111 |
G |
T |
2: 88,843,547 (GRCm39) |
T287N |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,903,688 (GRCm39) |
F1058S |
possibly damaging |
Het |
Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
Psme3ip1 |
A |
G |
8: 95,315,394 (GRCm39) |
|
probably benign |
Het |
Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,187,861 (GRCm39) |
E506G |
probably damaging |
Het |
Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
Sfr1 |
G |
A |
19: 47,721,227 (GRCm39) |
|
probably benign |
Het |
Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
Tmem184a |
T |
C |
5: 139,798,832 (GRCm39) |
E39G |
probably benign |
Het |
Trim66 |
C |
T |
7: 109,076,837 (GRCm39) |
|
probably benign |
Het |
Ugt2b35 |
A |
G |
5: 87,149,004 (GRCm39) |
Y85C |
possibly damaging |
Het |
Uts2r |
G |
T |
11: 121,051,213 (GRCm39) |
G26C |
possibly damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
|
Other mutations in Kdr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |