Incidental Mutation 'R6477:Kdr'
| ID |
516832 |
| 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 |
044609-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6477 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76129501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 129
(A129S)
|
| 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: A129S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: A129S
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,696 (GRCm39) |
D23G |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,924,325 (GRCm39) |
I1659T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,409,494 (GRCm39) |
V481M |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Cfap161 |
T |
A |
7: 83,443,230 (GRCm39) |
R20* |
probably null |
Het |
| Cops7a |
A |
T |
6: 124,937,139 (GRCm39) |
V184E |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,293,739 (GRCm39) |
E83G |
possibly damaging |
Het |
| Crls1 |
C |
T |
2: 132,703,153 (GRCm39) |
S201L |
probably benign |
Het |
| Cyp4f39 |
C |
A |
17: 32,700,791 (GRCm39) |
S153R |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,759,843 (GRCm39) |
I410N |
probably damaging |
Het |
| Dido1 |
T |
A |
2: 180,302,274 (GRCm39) |
T1877S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,796 (GRCm39) |
S1079G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,327,093 (GRCm39) |
V681I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,247,809 (GRCm39) |
|
probably null |
Het |
| Eya2 |
A |
G |
2: 165,605,681 (GRCm39) |
T362A |
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,957,055 (GRCm39) |
|
probably null |
Het |
| Hgs |
G |
A |
11: 120,360,481 (GRCm39) |
V60M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,571,343 (GRCm39) |
|
probably null |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,049,801 (GRCm39) |
M575K |
probably damaging |
Het |
| Lsamp |
G |
T |
16: 41,988,528 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
C |
8: 75,839,230 (GRCm39) |
V161A |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,675,115 (GRCm39) |
H249L |
probably damaging |
Het |
| Mroh5 |
A |
G |
15: 73,662,604 (GRCm39) |
S405P |
probably damaging |
Het |
| Mroh9 |
C |
A |
1: 162,903,873 (GRCm39) |
L46F |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,718,192 (GRCm39) |
H357Q |
probably damaging |
Het |
| Myrf |
G |
A |
19: 10,206,149 (GRCm39) |
P89L |
probably benign |
Het |
| Mzb1 |
C |
T |
18: 35,781,311 (GRCm39) |
|
probably null |
Het |
| Naip6 |
A |
G |
13: 100,452,516 (GRCm39) |
S182P |
probably damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,417 (GRCm39) |
F276Y |
probably damaging |
Het |
| Nudt12 |
G |
T |
17: 59,318,140 (GRCm39) |
S35Y |
probably benign |
Het |
| Or51h5 |
T |
A |
7: 102,577,585 (GRCm39) |
V250E |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,284,886 (GRCm39) |
S2P |
probably benign |
Het |
| Or9m1 |
A |
G |
2: 87,733,334 (GRCm39) |
S229P |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,889,318 (GRCm39) |
I541V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,884,694 (GRCm39) |
K1258E |
probably benign |
Het |
| Plcxd2 |
C |
G |
16: 45,801,022 (GRCm39) |
K67N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,586,627 (GRCm39) |
T930A |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,138,728 (GRCm39) |
|
probably null |
Het |
| Ppp1r14bl |
A |
T |
1: 23,140,861 (GRCm39) |
L151Q |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,340,946 (GRCm39) |
Y426C |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,263,235 (GRCm39) |
T83A |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,466,383 (GRCm39) |
V915E |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,345,408 (GRCm39) |
D10E |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,890,350 (GRCm39) |
E121G |
probably damaging |
Het |
| Senp6 |
A |
T |
9: 80,000,907 (GRCm39) |
R39* |
probably null |
Het |
| Sergef |
A |
T |
7: 46,283,250 (GRCm39) |
I94N |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,485,867 (GRCm39) |
R183W |
probably benign |
Het |
| Smurf1 |
C |
T |
5: 144,826,602 (GRCm39) |
R414H |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,653,166 (GRCm39) |
W1566R |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,901,334 (GRCm39) |
|
probably null |
Het |
| Tnni1 |
T |
C |
1: 135,733,304 (GRCm39) |
V42A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,938,513 (GRCm39) |
Y3098C |
probably damaging |
Het |
| Ubald2 |
T |
C |
11: 116,325,400 (GRCm39) |
F46L |
probably benign |
Het |
| Ubqln5 |
G |
A |
7: 103,777,465 (GRCm39) |
S453F |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,809,773 (GRCm39) |
R1248* |
probably null |
Het |
| Utp20 |
A |
G |
10: 88,604,780 (GRCm39) |
V1705A |
probably benign |
Het |
| Zfp60 |
G |
A |
7: 27,449,228 (GRCm39) |
R632H |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,942,560 (GRCm39) |
Y957C |
probably damaging |
Het |
| Zfp825 |
A |
T |
13: 74,629,029 (GRCm39) |
S162R |
possibly damaging |
Het |
| Zfp831 |
A |
C |
2: 174,545,960 (GRCm39) |
K1355T |
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 |
|
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 |
|
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'- CTATGGGAGCTTTGTAATTCACTG -3'
(R):5'- AGCCAGATAGCTATGTGCAG -3'
Sequencing Primer
(F):5'- TTGAAAGTGGGAAGCTCATCTCC -3'
(R):5'- ATAGCTATGTGCAGACTAGCCTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation