Incidental Mutation 'R0133:Kdr'
| ID |
21741 |
| 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 |
038418-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0133 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76112498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 862
(T862A)
|
| 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: T862A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: T862A
| 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 |
|
| Meta Mutation Damage Score |
0.2973 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
99% (83/84) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd4 |
T |
C |
11: 102,996,214 (GRCm39) |
S172P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,254 (GRCm39) |
K1223* |
probably null |
Het |
| Akna |
G |
A |
4: 63,297,598 (GRCm39) |
Q819* |
probably null |
Het |
| Ankrd2 |
T |
C |
19: 42,032,510 (GRCm39) |
V257A |
probably benign |
Het |
| Arap1 |
T |
A |
7: 101,035,436 (GRCm39) |
D30E |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,910,578 (GRCm39) |
|
probably benign |
Het |
| Blm |
T |
A |
7: 80,152,115 (GRCm39) |
I611F |
possibly damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,240 (GRCm39) |
K250R |
probably benign |
Het |
| Cdhr3 |
A |
G |
12: 33,142,751 (GRCm39) |
L8P |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,223,204 (GRCm39) |
|
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,163,223 (GRCm39) |
I204V |
probably benign |
Het |
| Cxcl16 |
T |
A |
11: 70,349,596 (GRCm39) |
E76D |
possibly damaging |
Het |
| Dhx15 |
T |
C |
5: 52,311,414 (GRCm39) |
I689V |
possibly damaging |
Het |
| Dlk2 |
T |
C |
17: 46,609,868 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,311,835 (GRCm39) |
M4452K |
probably damaging |
Het |
| Dok4 |
T |
A |
8: 95,591,991 (GRCm39) |
I280F |
probably benign |
Het |
| Dsc3 |
T |
C |
18: 20,104,639 (GRCm39) |
T563A |
probably damaging |
Het |
| Dsg1b |
C |
T |
18: 20,537,935 (GRCm39) |
A617V |
probably damaging |
Het |
| Eps8l2 |
C |
T |
7: 140,942,120 (GRCm39) |
P721S |
unknown |
Het |
| Evx2 |
T |
C |
2: 74,489,426 (GRCm39) |
D112G |
possibly damaging |
Het |
| Fam124a |
C |
A |
14: 62,843,782 (GRCm39) |
T430K |
possibly damaging |
Het |
| Fbrs |
C |
T |
7: 127,088,782 (GRCm39) |
|
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,103,647 (GRCm39) |
T22A |
probably benign |
Het |
| Fmo5 |
T |
G |
3: 97,552,952 (GRCm39) |
V300G |
probably damaging |
Het |
| Gadl1 |
T |
C |
9: 115,770,411 (GRCm39) |
S75P |
probably benign |
Het |
| Galnt2 |
T |
G |
8: 125,065,277 (GRCm39) |
I469S |
probably benign |
Het |
| Gga3 |
T |
A |
11: 115,479,805 (GRCm39) |
|
probably benign |
Het |
| Gm10647 |
T |
C |
9: 66,705,771 (GRCm39) |
|
probably benign |
Het |
| Gm14180 |
C |
A |
11: 99,625,043 (GRCm39) |
C25F |
unknown |
Het |
| Grid2 |
A |
T |
6: 64,297,116 (GRCm39) |
D493V |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,469,754 (GRCm39) |
Y182F |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,869,899 (GRCm39) |
L1443R |
probably damaging |
Het |
| Igkv4-62 |
A |
G |
6: 69,377,053 (GRCm39) |
I32T |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,691,015 (GRCm39) |
|
probably null |
Het |
| Il27ra |
G |
A |
8: 84,760,571 (GRCm39) |
|
probably benign |
Het |
| Jmjd1c |
C |
A |
10: 67,076,587 (GRCm39) |
A2137D |
probably benign |
Het |
| Kcnc2 |
T |
C |
10: 112,294,502 (GRCm39) |
C579R |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,005,556 (GRCm39) |
S182P |
possibly damaging |
Het |
| Klf5 |
A |
T |
14: 99,539,318 (GRCm39) |
T164S |
probably benign |
Het |
| Ksr2 |
T |
G |
5: 117,693,359 (GRCm39) |
V269G |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,847,539 (GRCm39) |
D445E |
probably damaging |
Het |
| Mlkl |
T |
C |
8: 112,054,580 (GRCm39) |
I186V |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,591,978 (GRCm39) |
S3017C |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,368,676 (GRCm39) |
F479L |
possibly damaging |
Het |
| Myo6 |
A |
G |
9: 80,181,257 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,354,782 (GRCm39) |
V393E |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,788,859 (GRCm39) |
|
probably null |
Het |
| Odf2l |
A |
G |
3: 144,854,302 (GRCm39) |
N383S |
probably damaging |
Het |
| Olfml3 |
A |
C |
3: 103,644,342 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
T |
A |
19: 13,727,352 (GRCm39) |
I294N |
probably damaging |
Het |
| Or7g17 |
G |
A |
9: 18,767,925 (GRCm39) |
M1I |
probably null |
Het |
| Or8g18 |
A |
G |
9: 39,149,307 (GRCm39) |
Y141H |
probably benign |
Het |
| Or8j3b |
A |
T |
2: 86,205,159 (GRCm39) |
V199E |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,174,009 (GRCm39) |
D1195E |
probably benign |
Het |
| Ppp1r1a |
T |
A |
15: 103,446,247 (GRCm39) |
H20L |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,746,085 (GRCm39) |
|
probably null |
Het |
| Prom2 |
A |
G |
2: 127,380,258 (GRCm39) |
|
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,622,357 (GRCm39) |
M1V |
probably null |
Het |
| Rhoj |
A |
G |
12: 75,441,194 (GRCm39) |
|
probably null |
Het |
| Rnf40 |
C |
T |
7: 127,196,032 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
T |
C |
19: 10,820,614 (GRCm39) |
L77P |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,738,522 (GRCm39) |
V586A |
possibly damaging |
Het |
| Slc30a10 |
T |
A |
1: 185,187,370 (GRCm39) |
L37Q |
probably damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,454,403 (GRCm39) |
M316K |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,672,010 (GRCm39) |
F844L |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,339,912 (GRCm39) |
E350G |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,278,524 (GRCm39) |
T995S |
probably benign |
Het |
| Tmc3 |
T |
G |
7: 83,261,681 (GRCm39) |
N586K |
probably damaging |
Het |
| Tmem107 |
T |
A |
11: 68,963,239 (GRCm39) |
|
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,989 (GRCm39) |
Q51R |
probably benign |
Het |
| Tmpo |
G |
T |
10: 90,999,900 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,996,815 (GRCm39) |
T1894S |
probably damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,347,468 (GRCm39) |
H3236Q |
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,700 (GRCm39) |
D545N |
probably benign |
Het |
| Zkscan3 |
G |
T |
13: 21,578,944 (GRCm39) |
P155T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTGATAGCAAACGCCTCTCC -3'
(R):5'- ACTGGGATGCACCATCCTCTTGAC -3'
Sequencing Primer
(F):5'- CCTCTGTGTAACCAGGATCAC -3'
(R):5'- CCACTGTCATTGGTTCTAGGA -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation