Incidental Mutation 'R6887:Kdr'
| ID |
536990 |
| 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 |
044981-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
75932827-75978458 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75968451 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 178
(R178S)
|
| 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
AA Change: R178S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: R178S
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 79,092,483 (GRCm38) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,298,590 (GRCm38) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,542,733 (GRCm38) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,528,701 (GRCm38) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,659,768 (GRCm38) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,723,698 (GRCm38) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,519,144 (GRCm38) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,738,451 (GRCm38) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,078,653 (GRCm38) |
S252P |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,625,927 (GRCm38) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 55,005,133 (GRCm38) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,261,071 (GRCm38) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,137,149 (GRCm38) |
D140A |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,733,699 (GRCm38) |
V39M |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,463,315 (GRCm38) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,563,389 (GRCm38) |
Y93H |
probably damaging |
Het |
| Hrc |
T |
C |
7: 45,335,664 (GRCm38) |
F80L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,189,820 (GRCm38) |
T139A |
possibly damaging |
Het |
| Lrrc61 |
A |
C |
6: 48,568,432 (GRCm38) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,325,237 (GRCm38) |
A1219V |
possibly damaging |
Het |
| Neto1 |
T |
C |
18: 86,498,635 (GRCm38) |
V359A |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 31,185,344 (GRCm38) |
|
probably benign |
Het |
| Or2y8 |
C |
A |
11: 52,145,352 (GRCm38) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,155,675 (GRCm38) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,861,910 (GRCm38) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,852,231 (GRCm38) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,402,067 (GRCm38) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,760,444 (GRCm38) |
S383R |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,111,151 (GRCm38) |
W13R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,544,806 (GRCm38) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,151,811 (GRCm38) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,804,944 (GRCm38) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,176,838 (GRCm38) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,333,157 (GRCm38) |
L326P |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,690,827 (GRCm38) |
C770S |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,457,565 (GRCm38) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,266,449 (GRCm38) |
I54T |
probably damaging |
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 |
|
R4687:Kdr
|
UTSW |
5 |
75,968,792 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
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 |
|
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'- GGATACTCACGTAGAAAGCTACTC -3'
(R):5'- TGGAGATGAGCTTCCCACTTTC -3'
Sequencing Primer
(F):5'- CTCACGTAGAAAGCTACTCTTTATTG -3'
(R):5'- TGAATTACAAAGCTCCCATAGGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation