Incidental Mutation 'R2893:Kdr'
| ID |
260662 |
| 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 |
040481-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2893 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76107496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1016
(F1016L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113516]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113516
AA Change: F1016L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: F1016L
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abl1 |
T |
G |
2: 31,687,624 (GRCm39) |
S521R |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
| Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,265,451 (GRCm39) |
D475G |
probably damaging |
Het |
| Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,107,008 (GRCm39) |
G662D |
possibly damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,493 (GRCm39) |
Q269R |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
possibly damaging |
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 |
|
|
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 |
|
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'- TTTCATGAAACCTCTAGCCACC -3'
(R):5'- GTTTCTGGTTCCTGAAATTAACCC -3'
Sequencing Primer
(F):5'- CTTTTATTAGCAGAAACAGAGCCTCC -3'
(R):5'- CCCTCAGGTCTTAAATAGATCATGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation