Incidental Mutation 'R0282:Kdr'
| ID |
37606 |
| 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 |
038504-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0282 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 76110760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Afap1l2 |
A |
G |
19: 56,904,653 (GRCm39) |
S549P |
possibly damaging |
Het |
| Alcam |
A |
T |
16: 52,116,104 (GRCm39) |
C157S |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
G |
A |
8: 71,933,258 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,851 (GRCm39) |
V56A |
probably benign |
Het |
| Aurkc |
T |
A |
7: 7,005,427 (GRCm39) |
|
probably null |
Het |
| Bnip3 |
T |
C |
7: 138,499,759 (GRCm39) |
D76G |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,407,022 (GRCm39) |
E246G |
possibly damaging |
Het |
| Ccdc157 |
G |
T |
11: 4,096,708 (GRCm39) |
A449D |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,810,483 (GRCm39) |
V26D |
probably benign |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crk |
G |
T |
11: 75,594,195 (GRCm39) |
G261C |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,408,200 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,377,175 (GRCm39) |
V572I |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,589 (GRCm39) |
Y1669C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,955,130 (GRCm39) |
F2053S |
probably damaging |
Het |
| Dner |
G |
A |
1: 84,383,686 (GRCm39) |
T566M |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,423,101 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,245,751 (GRCm39) |
V223A |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,234,223 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
A |
14: 103,332,661 (GRCm39) |
H106Y |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,012,200 (GRCm39) |
V106A |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,578,972 (GRCm39) |
R654* |
probably null |
Het |
| Gm7589 |
G |
A |
9: 59,053,288 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi202b |
A |
T |
1: 173,804,926 (GRCm39) |
S9T |
probably benign |
Het |
| Ipmk |
G |
C |
10: 71,208,661 (GRCm39) |
S149T |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,345 (GRCm39) |
E24G |
probably benign |
Het |
| Itga2b |
A |
C |
11: 102,351,672 (GRCm39) |
V551G |
probably damaging |
Het |
| Itgad |
C |
T |
7: 127,789,150 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
A |
17: 53,032,879 (GRCm39) |
F55L |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,986,573 (GRCm39) |
Y147C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,131,058 (GRCm39) |
F298L |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,662,617 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,673,238 (GRCm39) |
S69P |
probably damaging |
Het |
| Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,884 (GRCm39) |
V257A |
possibly damaging |
Het |
| Mybpc3 |
G |
C |
2: 90,954,369 (GRCm39) |
|
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,314 (GRCm39) |
V361A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,793,253 (GRCm39) |
T1277A |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,141,797 (GRCm39) |
T416A |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,647,720 (GRCm39) |
V203A |
possibly damaging |
Het |
| Or2k2 |
A |
G |
4: 58,785,344 (GRCm39) |
I126T |
probably damaging |
Het |
| Or4c104 |
G |
A |
2: 88,586,800 (GRCm39) |
T73I |
probably damaging |
Het |
| Or56b1b |
T |
A |
7: 108,164,684 (GRCm39) |
Q106L |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,926,917 (GRCm39) |
T1222I |
possibly damaging |
Het |
| P4ha1 |
C |
T |
10: 59,172,970 (GRCm39) |
T23M |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,132,422 (GRCm39) |
I537F |
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,312,780 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
C |
A |
12: 30,034,439 (GRCm39) |
S8* |
probably null |
Het |
| Rnf135 |
A |
T |
11: 80,084,784 (GRCm39) |
I186F |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,027,887 (GRCm39) |
|
probably benign |
Het |
| Rph3a |
C |
A |
5: 121,101,973 (GRCm39) |
G88* |
probably null |
Het |
| Sarm1 |
G |
A |
11: 78,365,806 (GRCm39) |
Q740* |
probably null |
Het |
| Setd1b |
C |
A |
5: 123,299,080 (GRCm39) |
|
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,837,181 (GRCm39) |
V85E |
probably damaging |
Het |
| Swi5 |
A |
G |
2: 32,170,766 (GRCm39) |
Y54H |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,823,111 (GRCm39) |
|
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tmem67 |
G |
A |
4: 12,087,930 (GRCm39) |
T72M |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,737 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 86,042,827 (GRCm39) |
Y1128H |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,908,680 (GRCm39) |
|
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,668 (GRCm39) |
M152K |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,343,724 (GRCm39) |
D1988E |
probably damaging |
Het |
| Zfp420 |
A |
G |
7: 29,575,105 (GRCm39) |
I442V |
probably benign |
Het |
| Zyx |
A |
G |
6: 42,332,939 (GRCm39) |
E363G |
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 |
|
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'- CTGTGTGCCCAGCATACCGATAAG -3'
(R):5'- GCACAGTTAAATGCAGCCATCATCC -3'
Sequencing Primer
(F):5'- TTACAACAGGGCTGTAGAACTC -3'
(R):5'- ATCATCCTGTGGCAATGGGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation