Incidental Mutation 'R4687:Kdr'
| ID |
353745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdr
|
| Ensembl Gene |
ENSMUSG00000062960 |
| Gene Name |
kinase insert domain protein receptor |
| Synonyms |
Flk1, vascular endothelial growth factor receptor- 2, VEGF receptor-2, VEGFR2, VEGFR-2, Flk-1 |
| 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 |
75932827-75978458 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75968792 bp (GRCm38)
|
| 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: 8,992,153 (GRCm38) |
Y45N |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,798,326 (GRCm38) |
V189A |
probably damaging |
Het |
| Akip1 |
C |
A |
7: 109,704,986 (GRCm38) |
S90* |
probably null |
Het |
| Amn |
A |
T |
12: 111,276,068 (GRCm38) |
D439V |
probably benign |
Het |
| Arhgap17 |
T |
A |
7: 123,321,603 (GRCm38) |
D149V |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,092,465 (GRCm38) |
I76N |
possibly damaging |
Het |
| Atp6v1h |
A |
T |
1: 5,133,085 (GRCm38) |
N291I |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,259,253 (GRCm38) |
P462T |
probably damaging |
Het |
| Bves |
C |
T |
10: 45,354,840 (GRCm38) |
|
probably null |
Het |
| Cabp7 |
T |
A |
11: 4,739,265 (GRCm38) |
K127* |
probably null |
Het |
| Cacna1h |
A |
G |
17: 25,393,910 (GRCm38) |
V313A |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,753,724 (GRCm38) |
H245R |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,932,460 (GRCm38) |
S1761C |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,627,456 (GRCm38) |
E1849G |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,367,465 (GRCm38) |
L174P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,303,025 (GRCm38) |
C303F |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,692,937 (GRCm38) |
Q396R |
probably damaging |
Het |
| Dnajc7 |
G |
A |
11: 100,599,300 (GRCm38) |
P43L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,907,012 (GRCm38) |
H16R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,191,619 (GRCm38) |
T1127A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,201,123 (GRCm38) |
L1525P |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,267,126 (GRCm38) |
D192V |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 83,020,631 (GRCm38) |
N71K |
probably damaging |
Het |
| Furin |
T |
A |
7: 80,393,447 (GRCm38) |
T339S |
probably benign |
Het |
| Gad1 |
T |
A |
2: 70,600,720 (GRCm38) |
I569N |
possibly damaging |
Het |
| Gfi1 |
T |
C |
5: 107,723,810 (GRCm38) |
K10R |
probably damaging |
Het |
| Gm20775 |
T |
A |
Y: 10,641,258 (GRCm38) |
|
noncoding transcript |
Homo |
| Gpn3 |
A |
C |
5: 122,378,575 (GRCm38) |
D89A |
possibly damaging |
Het |
| Gpr18 |
T |
A |
14: 121,911,678 (GRCm38) |
R312* |
probably null |
Het |
| Gsap |
T |
C |
5: 21,246,971 (GRCm38) |
|
probably benign |
Het |
| H2-Ab1 |
C |
A |
17: 34,264,809 (GRCm38) |
T48K |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,438,285 (GRCm38) |
N4326I |
probably benign |
Het |
| Igkv4-51 |
A |
C |
6: 69,681,730 (GRCm38) |
|
probably benign |
Het |
| Insr |
T |
C |
8: 3,161,709 (GRCm38) |
H1104R |
probably benign |
Het |
| Ipo13 |
A |
T |
4: 117,901,576 (GRCm38) |
N697K |
probably benign |
Het |
| Iqcm |
T |
G |
8: 75,762,989 (GRCm38) |
F362V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,566,823 (GRCm38) |
S425P |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,577,412 (GRCm38) |
E242G |
possibly damaging |
Het |
| Kdm4a |
T |
C |
4: 118,144,083 (GRCm38) |
K829R |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,185,517 (GRCm38) |
D185E |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,493,321 (GRCm38) |
N15S |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,927,317 (GRCm38) |
M151K |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,223 (GRCm38) |
S320T |
probably benign |
Het |
| Mrps5 |
C |
G |
2: 127,590,770 (GRCm38) |
A37G |
probably benign |
Het |
| Mttp |
A |
G |
3: 138,092,735 (GRCm38) |
I800T |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,148,196 (GRCm38) |
Q451L |
probably damaging |
Het |
| Nbea |
T |
C |
3: 56,058,065 (GRCm38) |
T476A |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,722,419 (GRCm38) |
E145G |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,304,035 (GRCm38) |
S660R |
possibly damaging |
Het |
| Nppb |
A |
G |
4: 147,986,296 (GRCm38) |
K43E |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,330,633 (GRCm38) |
Q906L |
probably benign |
Het |
| Olfr1259 |
T |
C |
2: 89,943,869 (GRCm38) |
D82G |
probably damaging |
Het |
| Olfr1413 |
T |
C |
1: 92,573,330 (GRCm38) |
I53T |
possibly damaging |
Het |
| Olfr370 |
T |
A |
8: 83,541,860 (GRCm38) |
S239T |
probably damaging |
Het |
| Olfr895 |
C |
A |
9: 38,269,414 (GRCm38) |
N292K |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,796,548 (GRCm38) |
I88F |
possibly damaging |
Het |
| Palm3 |
A |
G |
8: 84,029,935 (GRCm38) |
E692G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,983,753 (GRCm38) |
F578L |
probably damaging |
Het |
| Piezo2 |
A |
C |
18: 63,069,963 (GRCm38) |
D1535E |
probably damaging |
Het |
| Ppp1r15b |
T |
C |
1: 133,132,135 (GRCm38) |
V130A |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,204,898 (GRCm38) |
Y32H |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,890,798 (GRCm38) |
V682E |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,361,868 (GRCm38) |
M455L |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,226,635 (GRCm38) |
D739G |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,464,730 (GRCm38) |
I1550V |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,643,871 (GRCm38) |
D483G |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,550,355 (GRCm38) |
D17G |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 125,491,245 (GRCm38) |
C451Y |
probably damaging |
Het |
| Slc31a1 |
A |
G |
4: 62,388,702 (GRCm38) |
Y165C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,342,469 (GRCm38) |
F68L |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 120,077,208 (GRCm38) |
|
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,114,565 (GRCm38) |
I65T |
probably damaging |
Het |
| Tas2r115 |
C |
T |
6: 132,737,284 (GRCm38) |
A235T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 36,049,097 (GRCm38) |
A1400T |
probably benign |
Het |
| Tet1 |
T |
A |
10: 62,838,791 (GRCm38) |
N1169Y |
probably benign |
Het |
| Treml2 |
T |
A |
17: 48,309,397 (GRCm38) |
|
probably null |
Het |
| Tspan11 |
A |
G |
6: 127,938,235 (GRCm38) |
E104G |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,296,431 (GRCm38) |
A543V |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,496,819 (GRCm38) |
D578E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,711,856 (GRCm38) |
N542I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,711,855 (GRCm38) |
N542Y |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 69,708,143 (GRCm38) |
E65D |
probably benign |
Het |
|
| Other mutations in Kdr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Kdr
|
APN |
5 |
75,968,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01094:Kdr
|
APN |
5 |
75,961,760 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01310:Kdr
|
APN |
5 |
75,949,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01689:Kdr
|
APN |
5 |
75,936,840 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01986:Kdr
|
APN |
5 |
75,952,859 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02065:Kdr
|
APN |
5 |
75,961,853 (GRCm38) |
splice site |
probably benign |
|
|
IGL02200:Kdr
|
APN |
5 |
75,950,102 (GRCm38) |
splice site |
probably benign |
|
|
IGL02272:Kdr
|
APN |
5 |
75,961,840 (GRCm38) |
missense |
probably benign |
|
|
IGL02426:Kdr
|
APN |
5 |
75,974,466 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02483:Kdr
|
APN |
5 |
75,936,294 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02543:Kdr
|
APN |
5 |
75,964,947 (GRCm38) |
splice site |
probably benign |
|
|
IGL02590:Kdr
|
APN |
5 |
75,936,323 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03204:Kdr
|
APN |
5 |
75,972,382 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL03228:Kdr
|
APN |
5 |
75,957,048 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03265:Kdr
|
APN |
5 |
75,960,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
engelein
|
UTSW |
5 |
75,952,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Kdr
|
UTSW |
5 |
75,941,971 (GRCm38) |
splice site |
probably benign |
|
|
PIT4519001:Kdr
|
UTSW |
5 |
75,936,896 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0133:Kdr
|
UTSW |
5 |
75,951,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0197:Kdr
|
UTSW |
5 |
75,968,422 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0282:Kdr
|
UTSW |
5 |
75,950,100 (GRCm38) |
splice site |
probably benign |
|
|
R0309:Kdr
|
UTSW |
5 |
75,946,927 (GRCm38) |
splice site |
probably benign |
|
|
R0371:Kdr
|
UTSW |
5 |
75,941,834 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0396:Kdr
|
UTSW |
5 |
75,960,728 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0498:Kdr
|
UTSW |
5 |
75,959,138 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0932:Kdr
|
UTSW |
5 |
75,968,805 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1077:Kdr
|
UTSW |
5 |
75,956,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Kdr
|
UTSW |
5 |
75,946,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1713:Kdr
|
UTSW |
5 |
75,968,467 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1853:Kdr
|
UTSW |
5 |
75,952,905 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1854:Kdr
|
UTSW |
5 |
75,952,905 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R2142:Kdr
|
UTSW |
5 |
75,968,423 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R2238:Kdr
|
UTSW |
5 |
75,949,519 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R2891:Kdr
|
UTSW |
5 |
75,946,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2893:Kdr
|
UTSW |
5 |
75,946,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2894:Kdr
|
UTSW |
5 |
75,946,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2903:Kdr
|
UTSW |
5 |
75,966,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2904:Kdr
|
UTSW |
5 |
75,966,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3155:Kdr
|
UTSW |
5 |
75,968,405 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3939:Kdr
|
UTSW |
5 |
75,972,429 (GRCm38) |
nonsense |
probably null |
|
|
R4051:Kdr
|
UTSW |
5 |
75,968,408 (GRCm38) |
missense |
probably benign |
|
|
R4151:Kdr
|
UTSW |
5 |
75,957,101 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4433:Kdr
|
UTSW |
5 |
75,943,925 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4691:Kdr
|
UTSW |
5 |
75,944,599 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5185:Kdr
|
UTSW |
5 |
75,952,417 (GRCm38) |
splice site |
probably null |
|
|
R5544:Kdr
|
UTSW |
5 |
75,960,743 (GRCm38) |
nonsense |
probably null |
|
|
R6083:Kdr
|
UTSW |
5 |
75,944,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6477:Kdr
|
UTSW |
5 |
75,968,841 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6568:Kdr
|
UTSW |
5 |
75,961,774 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6647:Kdr
|
UTSW |
5 |
75,952,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6827:Kdr
|
UTSW |
5 |
75,944,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6887:Kdr
|
UTSW |
5 |
75,968,451 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6929:Kdr
|
UTSW |
5 |
75,978,104 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6993:Kdr
|
UTSW |
5 |
75,972,411 (GRCm38) |
missense |
probably benign |
|
|
R7022:Kdr
|
UTSW |
5 |
75,972,260 (GRCm38) |
nonsense |
probably null |
|
|
R7050:Kdr
|
UTSW |
5 |
75,950,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7099:Kdr
|
UTSW |
5 |
75,944,333 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7274:Kdr
|
UTSW |
5 |
75,964,700 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7310:Kdr
|
UTSW |
5 |
75,944,325 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7565:Kdr
|
UTSW |
5 |
75,948,843 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9067:Kdr
|
UTSW |
5 |
75,948,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9448:Kdr
|
UTSW |
5 |
75,941,909 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9564:Kdr
|
UTSW |
5 |
75,964,905 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9655:Kdr
|
UTSW |
5 |
75,961,828 (GRCm38) |
missense |
probably benign |
|
|
R9691:Kdr
|
UTSW |
5 |
75,968,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9799:Kdr
|
UTSW |
5 |
75,957,092 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
X0024:Kdr
|
UTSW |
5 |
75,974,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Kdr
|
UTSW |
5 |
75,968,475 (GRCm38) |
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