Incidental Mutation 'IGL01986:Kdr'
ID |
181930 |
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 # |
IGL01986
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76113519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 783
(V783A)
|
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: V783A
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109144 Gene: ENSMUSG00000062960 AA Change: V783A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202473
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,415,705 (GRCm39) |
N415Y |
probably damaging |
Het |
Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
Gramd1a |
A |
T |
7: 30,833,434 (GRCm39) |
L610Q |
possibly damaging |
Het |
Hsd17b4 |
C |
A |
18: 50,293,193 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,787,834 (GRCm39) |
S663P |
probably benign |
Het |
Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
Lmntd1 |
A |
G |
6: 145,365,533 (GRCm39) |
S53P |
probably damaging |
Het |
Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
Rpa2 |
C |
T |
4: 132,499,191 (GRCm39) |
P87S |
probably benign |
Het |
Rpa2 |
C |
T |
4: 132,499,192 (GRCm39) |
P87L |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
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 |
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 |
|
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 |
2014-05-07 |