Incidental Mutation 'R7022:Kdr'
| ID |
545683 |
| 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 |
045123-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 76132920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 119
(Y119*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113516]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113516
AA Change: Y119*
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: Y119*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,974,326 (GRCm39) |
S203T |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,494 (GRCm39) |
M76K |
probably damaging |
Het |
| Ankrd33 |
G |
C |
15: 101,014,780 (GRCm39) |
V56L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,592,725 (GRCm39) |
L1134I |
possibly damaging |
Het |
| C3 |
T |
G |
17: 57,524,286 (GRCm39) |
D948A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
C |
5: 112,503,395 (GRCm39) |
M103R |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,122,612 (GRCm39) |
E138G |
possibly damaging |
Het |
| Cd80 |
A |
G |
16: 38,306,866 (GRCm39) |
|
probably null |
Het |
| Cdca7 |
T |
A |
2: 72,309,873 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,079,030 (GRCm39) |
S447G |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,205,786 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
T |
19: 46,750,989 (GRCm39) |
I260F |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,847,379 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
C |
6: 4,534,639 (GRCm39) |
L881P |
unknown |
Het |
| Crebbp |
A |
T |
16: 3,935,187 (GRCm39) |
S901T |
probably damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,321,637 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,005 (GRCm39) |
P4477S |
probably benign |
Het |
| Donson |
A |
G |
16: 91,478,218 (GRCm39) |
Y428H |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,375,716 (GRCm39) |
W1167L |
probably benign |
Het |
| Elmo2 |
C |
T |
2: 165,136,961 (GRCm39) |
V592M |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,702,093 (GRCm39) |
E60D |
probably damaging |
Het |
| Erfl |
A |
T |
7: 24,631,089 (GRCm39) |
|
probably null |
Het |
| Fam83b |
TAAGA |
T |
9: 76,409,394 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
G |
18: 62,669,295 (GRCm39) |
C52R |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,897,055 (GRCm39) |
W65R |
probably damaging |
Het |
| Gm43518 |
A |
T |
5: 124,074,490 (GRCm39) |
M44L |
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,637,913 (GRCm39) |
D212E |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,299,620 (GRCm39) |
N597S |
probably damaging |
Het |
| Gprin1 |
T |
G |
13: 54,886,855 (GRCm39) |
E473A |
probably benign |
Het |
| Ighv1-69 |
T |
A |
12: 115,586,834 (GRCm39) |
M100L |
probably benign |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,193 (GRCm39) |
S29P |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,786 (GRCm39) |
V232A |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,270,379 (GRCm39) |
L376P |
probably damaging |
Het |
| Kif1a |
T |
G |
1: 92,993,820 (GRCm39) |
T377P |
probably benign |
Het |
| Lama5 |
C |
A |
2: 179,822,524 (GRCm39) |
V2850L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,552 (GRCm39) |
Y2393C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,356,763 (GRCm39) |
Q255* |
probably null |
Het |
| Msh3 |
A |
C |
13: 92,372,096 (GRCm39) |
D891E |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,957,335 (GRCm39) |
N2D |
possibly damaging |
Het |
| Myo19 |
T |
C |
11: 84,791,373 (GRCm39) |
L476P |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,467,686 (GRCm39) |
R501W |
probably damaging |
Het |
| Nfasc |
C |
A |
1: 132,548,787 (GRCm39) |
K293N |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,319 (GRCm39) |
L65Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,401,825 (GRCm39) |
D34E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,220,871 (GRCm39) |
V1891D |
probably benign |
Het |
| Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
| Or5g29 |
T |
A |
2: 85,420,942 (GRCm39) |
D19E |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,482 (GRCm39) |
N19S |
probably benign |
Het |
| Or8g22 |
G |
T |
9: 38,958,379 (GRCm39) |
C156* |
probably null |
Het |
| Oscp1 |
G |
A |
4: 125,976,783 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
A |
G |
18: 37,886,086 (GRCm39) |
T419A |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,121 (GRCm39) |
D387G |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,990 (GRCm39) |
F56S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,061 (GRCm39) |
E59G |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,398,752 (GRCm39) |
T692K |
possibly damaging |
Het |
| Rbm45 |
T |
A |
2: 76,206,738 (GRCm39) |
L250Q |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,265,108 (GRCm39) |
M194K |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,799,722 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
T |
C |
5: 8,562,348 (GRCm39) |
K340R |
probably null |
Het |
| Scn1a |
T |
A |
2: 66,148,243 (GRCm39) |
T1101S |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,080,412 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
G |
17: 35,064,183 (GRCm39) |
F501S |
possibly damaging |
Het |
| Slc20a1 |
T |
A |
2: 129,041,979 (GRCm39) |
M114K |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,881,047 (GRCm39) |
I2158S |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,111 (GRCm39) |
F174L |
probably benign |
Het |
| Sucnr1 |
A |
T |
3: 59,993,699 (GRCm39) |
I76L |
probably benign |
Het |
| Syt17 |
C |
T |
7: 118,007,242 (GRCm39) |
V412I |
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,346,850 (GRCm39) |
H18L |
probably benign |
Het |
| Tpp1 |
T |
G |
7: 105,398,129 (GRCm39) |
K345Q |
probably damaging |
Het |
| Trcg1 |
G |
A |
9: 57,148,852 (GRCm39) |
M141I |
possibly damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,499,742 (GRCm39) |
N260S |
probably benign |
Het |
| Vps41 |
C |
A |
13: 19,026,438 (GRCm39) |
T512K |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,178,293 (GRCm39) |
M147L |
probably benign |
Het |
| Ywhaq |
A |
G |
12: 21,441,752 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,184,387 (GRCm39) |
N139S |
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 |
|
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 |
|
|
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'- AGACTTCTGGTGAGTCCTTCC -3'
(R):5'- TGGCATGGAGTGTACCATTG -3'
Sequencing Primer
(F):5'- GACTTCTGGTGAGTCCTTCCCTAAG -3'
(R):5'- AATACTTTTTCAGGGGACAGCG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation