Incidental Mutation 'R4687:Kdr'
| ID |
353745 |
| 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 |
041938-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76129452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 145
(N145S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113516]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113516
AA Change: N145S
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: N145S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,210,985 (GRCm39) |
Y45N |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,775,261 (GRCm39) |
V189A |
probably damaging |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Amn |
A |
T |
12: 111,242,502 (GRCm39) |
D439V |
probably benign |
Het |
| Arhgap17 |
T |
A |
7: 122,920,826 (GRCm39) |
D149V |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,069,400 (GRCm39) |
I76N |
possibly damaging |
Het |
| Atp6v1h |
A |
T |
1: 5,203,308 (GRCm39) |
N291I |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,143,453 (GRCm39) |
P462T |
probably damaging |
Het |
| Bves |
C |
T |
10: 45,230,936 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
T |
A |
11: 4,689,265 (GRCm39) |
K127* |
probably null |
Het |
| Cacna1h |
A |
G |
17: 25,612,884 (GRCm39) |
V313A |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,891,787 (GRCm39) |
H245R |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,816,661 (GRCm39) |
S1761C |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,207,372 (GRCm39) |
E1849G |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,477 (GRCm39) |
L174P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,610,454 (GRCm39) |
C303F |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,681,385 (GRCm39) |
Q396R |
probably damaging |
Het |
| Dnajc7 |
G |
A |
11: 100,490,126 (GRCm39) |
P43L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,957,040 (GRCm39) |
H16R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,375,595 (GRCm39) |
T1127A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,204 (GRCm39) |
L1525P |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,471 (GRCm39) |
D192V |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,938,868 (GRCm39) |
N71K |
probably damaging |
Het |
| Furin |
T |
A |
7: 80,043,195 (GRCm39) |
T339S |
probably benign |
Het |
| Gad1 |
T |
A |
2: 70,431,064 (GRCm39) |
I569N |
possibly damaging |
Het |
| Gfi1 |
T |
C |
5: 107,871,676 (GRCm39) |
K10R |
probably damaging |
Het |
| Gm20775 |
T |
A |
Y: 10,641,258 (GRCm39) |
|
noncoding transcript |
Homo |
| Gpn3 |
A |
C |
5: 122,516,638 (GRCm39) |
D89A |
possibly damaging |
Het |
| Gpr18 |
T |
A |
14: 122,149,090 (GRCm39) |
R312* |
probably null |
Het |
| Gsap |
T |
C |
5: 21,451,969 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
C |
A |
17: 34,483,783 (GRCm39) |
T48K |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,328,297 (GRCm39) |
N4326I |
probably benign |
Het |
| Igkv4-51 |
A |
C |
6: 69,658,714 (GRCm39) |
|
probably benign |
Het |
| Insr |
T |
C |
8: 3,211,709 (GRCm39) |
H1104R |
probably benign |
Het |
| Ipo13 |
A |
T |
4: 117,758,773 (GRCm39) |
N697K |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,489,617 (GRCm39) |
F362V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,464,704 (GRCm39) |
S425P |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,710,477 (GRCm39) |
E242G |
possibly damaging |
Het |
| Kdm4a |
T |
C |
4: 118,001,280 (GRCm39) |
K829R |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,162,480 (GRCm39) |
D185E |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,383,333 (GRCm39) |
N15S |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,809,370 (GRCm39) |
M151K |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,223 (GRCm39) |
S320T |
probably benign |
Het |
| Mrps5 |
C |
G |
2: 127,432,690 (GRCm39) |
A37G |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,798,496 (GRCm39) |
I800T |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,039,022 (GRCm39) |
Q451L |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,965,486 (GRCm39) |
T476A |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,941,393 (GRCm39) |
E145G |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,194,047 (GRCm39) |
S660R |
possibly damaging |
Het |
| Nppb |
A |
G |
4: 148,070,753 (GRCm39) |
K43E |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,220,645 (GRCm39) |
Q906L |
probably benign |
Het |
| Or10k2 |
T |
A |
8: 84,268,489 (GRCm39) |
S239T |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,213 (GRCm39) |
D82G |
probably damaging |
Het |
| Or8c17 |
C |
A |
9: 38,180,710 (GRCm39) |
N292K |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,052 (GRCm39) |
I53T |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,564 (GRCm39) |
E692G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,633,501 (GRCm39) |
F578L |
probably damaging |
Het |
| Piezo2 |
A |
C |
18: 63,203,034 (GRCm39) |
D1535E |
probably damaging |
Het |
| Ppp1r15b |
T |
C |
1: 133,059,873 (GRCm39) |
V130A |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,095,724 (GRCm39) |
Y32H |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,798,080 (GRCm39) |
V682E |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,307,594 (GRCm39) |
M455L |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,374,754 (GRCm39) |
D739G |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,213 (GRCm39) |
D483G |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,457,776 (GRCm39) |
D17G |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,217,984 (GRCm39) |
C451Y |
probably damaging |
Het |
| Slc31a1 |
A |
G |
4: 62,306,939 (GRCm39) |
Y165C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,249,776 (GRCm39) |
F68L |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,689 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,114,711 (GRCm39) |
I65T |
probably damaging |
Het |
| Tas2r115 |
C |
T |
6: 132,714,247 (GRCm39) |
A235T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,939,924 (GRCm39) |
A1400T |
probably benign |
Het |
| Tet1 |
T |
A |
10: 62,674,570 (GRCm39) |
N1169Y |
probably benign |
Het |
| Treml2 |
T |
A |
17: 48,616,425 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
A |
G |
6: 127,915,198 (GRCm39) |
E104G |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,023,742 (GRCm39) |
A543V |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,317,189 (GRCm39) |
D578E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,682 (GRCm39) |
N542I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,681 (GRCm39) |
N542Y |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,793 (GRCm39) |
E65D |
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 |
|
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'- AATGTGCTGTTGACCCTCCC -3'
(R):5'- CAGACTAGCCTGTGGATGTC -3'
Sequencing Primer
(F):5'- CCTATGGGAGCTTTGTAATTCAC -3'
(R):5'- TCATGCAAGTTGTCAATGATAGCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation