Incidental Mutation 'IGL02543:Kdr'
| ID |
298315 |
| 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 # |
IGL02543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 76125607 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 benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149573
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,495 (GRCm39) |
A193S |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,627 (GRCm39) |
T1069A |
probably benign |
Het |
| Arg2 |
A |
T |
12: 79,197,533 (GRCm39) |
I184F |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,113 (GRCm39) |
P63S |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,634 (GRCm39) |
H85R |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,291,413 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
G |
8: 125,256,698 (GRCm39) |
N148S |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,720 (GRCm39) |
T162A |
probably damaging |
Het |
| Ddi1 |
C |
T |
9: 6,266,183 (GRCm39) |
G62D |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,878,066 (GRCm39) |
Y435C |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,098,885 (GRCm39) |
C765S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,722,529 (GRCm39) |
D362E |
probably benign |
Het |
| Gm28040 |
A |
T |
1: 133,247,069 (GRCm39) |
I26F |
possibly damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,202 (GRCm39) |
M22T |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,303 (GRCm39) |
E98G |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,436 (GRCm39) |
I968T |
possibly damaging |
Het |
| Hlx |
T |
G |
1: 184,462,948 (GRCm39) |
S235R |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,933,867 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,166,685 (GRCm39) |
E435G |
probably damaging |
Het |
| L3mbtl4 |
T |
C |
17: 68,768,607 (GRCm39) |
|
probably benign |
Het |
| Large1 |
T |
A |
8: 73,775,042 (GRCm39) |
M223L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,760,413 (GRCm39) |
K2838E |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,561,221 (GRCm39) |
D582G |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,470,211 (GRCm39) |
D314G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,784,825 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
T |
G |
1: 172,957,901 (GRCm39) |
K294N |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,389,710 (GRCm39) |
C246S |
possibly damaging |
Het |
| Or7a42 |
C |
A |
10: 78,791,773 (GRCm39) |
H245N |
probably damaging |
Het |
| P3h1 |
T |
C |
4: 119,095,053 (GRCm39) |
|
probably benign |
Het |
| Pcp4l1 |
C |
T |
1: 171,003,133 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,330 (GRCm39) |
G118D |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,602,134 (GRCm39) |
D374G |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,497 (GRCm39) |
L534P |
possibly damaging |
Het |
| Rnf123 |
A |
G |
9: 107,943,547 (GRCm39) |
S563P |
probably damaging |
Het |
| Scart1 |
A |
G |
7: 139,800,491 (GRCm39) |
M91V |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,759,747 (GRCm39) |
I418N |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,578,688 (GRCm39) |
I655T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,618 (GRCm39) |
K524R |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,123,372 (GRCm39) |
A135V |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,751,991 (GRCm39) |
W942G |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,092,840 (GRCm39) |
V1247I |
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,459 (GRCm39) |
T115A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,540,306 (GRCm39) |
T34227A |
probably benign |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,342 (GRCm39) |
D230V |
probably benign |
Het |
| Vmn1r203 |
G |
A |
13: 22,709,074 (GRCm39) |
G285D |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,356 (GRCm39) |
S315P |
probably benign |
Het |
| Vmn2r98 |
T |
G |
17: 19,286,083 (GRCm39) |
S194A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,703,165 (GRCm39) |
S137F |
probably damaging |
Het |
| Wnt7b |
C |
T |
15: 85,443,097 (GRCm39) |
|
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,467,494 (GRCm39) |
C27* |
probably null |
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 |
|
IGL02483:Kdr
|
APN |
5 |
76,096,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
Incidental Mutation