Incidental Mutation 'R6083:Kdr'
ID |
482291 |
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 |
044242-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6083 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76105026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 1068
(K1068R)
|
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: K1068R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109144 Gene: ENSMUSG00000062960 AA Change: K1068R
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 |
0.3244 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (76/79) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
A |
11: 58,769,677 (GRCm39) |
P73Q |
possibly damaging |
Het |
Aak1 |
A |
T |
6: 86,940,978 (GRCm39) |
I591F |
unknown |
Het |
Ace |
C |
A |
11: 105,876,093 (GRCm39) |
Y816* |
probably null |
Het |
Ahnak2 |
A |
G |
12: 112,746,715 (GRCm39) |
V1205A |
probably benign |
Het |
Ahnak2 |
T |
G |
12: 112,746,589 (GRCm39) |
Q1076P |
probably benign |
Het |
Ap2a1 |
G |
A |
7: 44,557,175 (GRCm39) |
R263W |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,786,397 (GRCm39) |
T257A |
probably benign |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Ccdc17 |
A |
T |
4: 116,454,123 (GRCm39) |
Q47L |
possibly damaging |
Het |
Cep170 |
C |
T |
1: 176,602,191 (GRCm39) |
R305H |
probably damaging |
Het |
Cyb5r4 |
C |
T |
9: 86,939,221 (GRCm39) |
P335S |
probably damaging |
Het |
Cyp2c54 |
A |
G |
19: 40,062,206 (GRCm39) |
L17P |
probably benign |
Het |
Cyp2c69 |
A |
T |
19: 39,837,900 (GRCm39) |
V394E |
probably damaging |
Het |
Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
Defb36 |
A |
T |
2: 152,446,408 (GRCm39) |
M1L |
unknown |
Het |
Dnaja1 |
A |
G |
4: 40,731,713 (GRCm39) |
D263G |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
Efnb2 |
T |
C |
8: 8,672,328 (GRCm39) |
|
probably null |
Het |
Eif3e |
A |
G |
15: 43,129,540 (GRCm39) |
I196T |
probably damaging |
Het |
Ercc4 |
T |
A |
16: 12,927,903 (GRCm39) |
C24* |
probably null |
Het |
Fmn1 |
A |
G |
2: 113,194,648 (GRCm39) |
E116G |
unknown |
Het |
Gnas |
A |
G |
2: 174,139,655 (GRCm39) |
M1V |
probably null |
Het |
Grin2a |
C |
A |
16: 9,397,404 (GRCm39) |
M894I |
probably benign |
Het |
Herc2 |
G |
T |
7: 55,878,253 (GRCm39) |
S4566I |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,631,044 (GRCm39) |
P918L |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,631,045 (GRCm39) |
P918T |
probably damaging |
Het |
Hsd3b2 |
T |
A |
3: 98,619,372 (GRCm39) |
Y191F |
possibly damaging |
Het |
Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
Itih2 |
T |
C |
2: 10,113,705 (GRCm39) |
|
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,649,899 (GRCm39) |
L191P |
probably benign |
Het |
Lmtk2 |
T |
C |
5: 144,119,574 (GRCm39) |
L1345P |
probably damaging |
Het |
Man2b2 |
T |
A |
5: 36,966,385 (GRCm39) |
D936V |
probably damaging |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,317 (GRCm39) |
R38* |
probably null |
Het |
Med13l |
T |
C |
5: 118,859,551 (GRCm39) |
V246A |
possibly damaging |
Het |
Mlec |
T |
A |
5: 115,286,108 (GRCm39) |
T248S |
probably benign |
Het |
Mslnl |
T |
A |
17: 25,956,876 (GRCm39) |
V54D |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,568,508 (GRCm39) |
T1337I |
unknown |
Het |
Nek7 |
C |
T |
1: 138,443,392 (GRCm39) |
S187N |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,367,214 (GRCm39) |
V538A |
probably benign |
Het |
Nktr |
T |
C |
9: 121,579,202 (GRCm39) |
|
probably benign |
Het |
Npy6r |
A |
G |
18: 44,409,559 (GRCm39) |
K327E |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,472,789 (GRCm39) |
I221T |
probably damaging |
Het |
Or3a1c |
A |
G |
11: 74,046,396 (GRCm39) |
M139V |
possibly damaging |
Het |
Or4a72 |
T |
C |
2: 89,406,016 (GRCm39) |
D18G |
probably benign |
Het |
Or4c123 |
T |
A |
2: 89,127,368 (GRCm39) |
D82V |
probably damaging |
Het |
Or5b109 |
A |
T |
19: 13,211,889 (GRCm39) |
I92F |
probably benign |
Het |
Pcdhga4 |
A |
T |
18: 37,820,478 (GRCm39) |
N676Y |
probably damaging |
Het |
Pde2a |
T |
C |
7: 101,152,086 (GRCm39) |
I331T |
possibly damaging |
Het |
Pip5k1b |
A |
T |
19: 24,281,399 (GRCm39) |
Y486* |
probably null |
Het |
Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,939,646 (GRCm39) |
|
probably benign |
Het |
Rgs19 |
T |
C |
2: 181,331,300 (GRCm39) |
E111G |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,160,066 (GRCm39) |
N145S |
probably damaging |
Het |
Rnf4 |
T |
A |
5: 34,508,565 (GRCm39) |
|
probably null |
Het |
Rpa1 |
T |
C |
11: 75,205,737 (GRCm39) |
T207A |
probably damaging |
Het |
Rufy4 |
A |
C |
1: 74,168,556 (GRCm39) |
Q113P |
probably damaging |
Het |
Sh3pxd2b |
T |
G |
11: 32,372,985 (GRCm39) |
S717R |
probably benign |
Het |
Sin3a |
A |
T |
9: 57,014,824 (GRCm39) |
I682F |
probably damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,195,212 (GRCm39) |
V842E |
possibly damaging |
Het |
Slc5a4a |
A |
G |
10: 75,983,431 (GRCm39) |
I23V |
unknown |
Het |
Slitrk5 |
A |
G |
14: 111,919,157 (GRCm39) |
N927S |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,326,354 (GRCm39) |
K117R |
possibly damaging |
Het |
Sod2 |
G |
A |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
A |
G |
2: 32,686,030 (GRCm39) |
I567T |
possibly damaging |
Het |
Tbkbp1 |
C |
A |
11: 97,038,206 (GRCm39) |
L209F |
probably damaging |
Het |
Tll1 |
G |
T |
8: 64,491,620 (GRCm39) |
|
probably null |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
Trim30b |
A |
G |
7: 104,015,349 (GRCm39) |
V13A |
probably damaging |
Het |
Trip11 |
G |
A |
12: 101,856,001 (GRCm39) |
T425I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,720,317 (GRCm39) |
|
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
A |
1: 187,999,220 (GRCm39) |
S177T |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,906,281 (GRCm39) |
S651R |
probably benign |
Het |
Vmn1r125 |
T |
C |
7: 21,006,644 (GRCm39) |
S181P |
probably damaging |
Het |
Vmn1r198 |
T |
A |
13: 22,538,928 (GRCm39) |
V138D |
possibly damaging |
Het |
Vmn1r56 |
A |
G |
7: 5,199,317 (GRCm39) |
L100P |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
Vmn2r53 |
A |
C |
7: 12,315,808 (GRCm39) |
H670Q |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,711 (GRCm39) |
I809N |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,861,540 (GRCm39) |
G184D |
probably damaging |
Het |
Wnk1 |
C |
T |
6: 120,014,562 (GRCm39) |
G11D |
probably damaging |
Het |
Zfp110 |
A |
C |
7: 12,578,602 (GRCm39) |
E171A |
possibly damaging |
Het |
Zkscan6 |
T |
C |
11: 65,706,757 (GRCm39) |
V134A |
probably 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 |
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 |
|
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'- ACACACAAGGCTCAATGGTC -3'
(R):5'- TAAGATCTGTGACTTCGGCTTG -3'
|
Posted On |
2017-07-14 |