Incidental Mutation 'R1077:Kdr'
| ID |
85678 |
| 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 |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76116891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 728
(E728G)
|
| 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: E728G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: E728G
| 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: ENSMUST00000202473
|
| Meta Mutation Damage Score |
0.3575 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
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 |
|
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'- CGAGGCTTAACAACCACCAGTGTC -3'
(R):5'- TGGGAGAGCAGTCAGTAGTCAACC -3'
Sequencing Primer
(F):5'- GTGTCACCATGAGTCACCC -3'
(R):5'- AGCAGTCAGTAGTCAACCTTGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation