Incidental Mutation 'PIT4519001:Kdr'
| ID |
555103 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4519001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76097556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1233
(S1233R)
|
| 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: S1233R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: S1233R
| 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: 93.5%
- 3x: 90.9%
- 10x: 84.7%
- 20x: 70.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,217,440 (GRCm39) |
M803K |
probably benign |
Het |
| 4930590J08Rik |
C |
A |
6: 91,894,038 (GRCm39) |
N218K |
probably damaging |
Het |
| Abcc2 |
G |
A |
19: 43,807,836 (GRCm39) |
V826M |
possibly damaging |
Het |
| Abcg2 |
T |
C |
6: 58,651,792 (GRCm39) |
S395P |
probably damaging |
Het |
| Adam1b |
C |
T |
5: 121,640,010 (GRCm39) |
G345D |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,505,773 (GRCm39) |
C292S |
probably benign |
Het |
| Amd2 |
C |
A |
10: 35,586,627 (GRCm39) |
C310F |
possibly damaging |
Het |
| BC051665 |
A |
T |
13: 60,931,989 (GRCm39) |
S137T |
possibly damaging |
Het |
| Bmp1 |
A |
G |
14: 70,727,469 (GRCm39) |
F705L |
possibly damaging |
Het |
| Coil |
C |
T |
11: 88,863,552 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
G |
A |
9: 105,609,462 (GRCm39) |
P1609S |
probably benign |
Het |
| Cpt1b |
A |
T |
15: 89,303,066 (GRCm39) |
F633I |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,311,406 (GRCm39) |
D194E |
probably benign |
Het |
| Defb4 |
A |
G |
8: 19,248,752 (GRCm39) |
R2G |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,162,897 (GRCm39) |
V506A |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,558,942 (GRCm39) |
S563G |
probably benign |
Het |
| Dpp7 |
C |
A |
2: 25,242,460 (GRCm39) |
G498W |
probably damaging |
Het |
| Fam210a |
A |
T |
18: 68,409,020 (GRCm39) |
S97T |
possibly damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,520,501 (GRCm39) |
D767V |
probably damaging |
Het |
| Fgg |
A |
T |
3: 82,920,246 (GRCm39) |
N342Y |
probably damaging |
Het |
| Gimap6 |
T |
G |
6: 48,684,995 (GRCm39) |
R30S |
probably benign |
Het |
| Gm10840 |
T |
C |
11: 106,051,959 (GRCm39) |
V95A |
unknown |
Het |
| Herc3 |
T |
A |
6: 58,853,796 (GRCm39) |
I614N |
probably damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,866,344 (GRCm39) |
K1078N |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,570,783 (GRCm39) |
E838V |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,628,302 (GRCm39) |
K17E |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,608,957 (GRCm39) |
R1538W |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,005,424 (GRCm39) |
T296I |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,784,171 (GRCm39) |
S1054G |
probably benign |
Het |
| Or10ac1 |
T |
C |
6: 42,515,534 (GRCm39) |
T141A |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,578 (GRCm39) |
C138R |
probably damaging |
Het |
| Or5b109 |
A |
C |
19: 13,212,216 (GRCm39) |
I201L |
probably benign |
Het |
| Or6f1 |
T |
C |
7: 85,970,941 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pipox |
C |
A |
11: 77,774,001 (GRCm39) |
W205L |
probably damaging |
Het |
| Plin4 |
T |
G |
17: 56,410,828 (GRCm39) |
T1068P |
probably benign |
Het |
| Pou6f2 |
A |
G |
13: 18,414,149 (GRCm39) |
S209P |
unknown |
Het |
| Ptpdc1 |
T |
C |
13: 48,736,632 (GRCm39) |
T713A |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,701,716 (GRCm39) |
Y246C |
possibly damaging |
Het |
| Rnf19b |
C |
T |
4: 128,969,446 (GRCm39) |
A354V |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,126 (GRCm39) |
T346A |
probably benign |
Het |
| Rsrc2 |
T |
C |
5: 123,883,135 (GRCm39) |
T16A |
unknown |
Het |
| Scrn3 |
T |
C |
2: 73,148,768 (GRCm39) |
V113A |
possibly damaging |
Het |
| Scrn3 |
T |
A |
2: 73,161,347 (GRCm39) |
I311K |
possibly damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Sin3a |
A |
G |
9: 57,002,740 (GRCm39) |
I211V |
possibly damaging |
Het |
| Strn3 |
T |
C |
12: 51,680,491 (GRCm39) |
T370A |
probably benign |
Het |
| Sulf1 |
T |
G |
1: 12,918,395 (GRCm39) |
N786K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,597,118 (GRCm39) |
Y352* |
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,634,297 (GRCm39) |
N126K |
probably benign |
Het |
| Tjap1 |
C |
A |
17: 46,572,432 (GRCm39) |
R68L |
probably benign |
Het |
| Tnfsf12 |
C |
T |
11: 69,586,230 (GRCm39) |
R66Q |
probably benign |
Het |
| Traj45 |
A |
G |
14: 54,410,303 (GRCm39) |
D6G |
|
Het |
| Trappc9 |
T |
C |
15: 72,824,943 (GRCm39) |
T541A |
probably benign |
Het |
| Ttc29 |
A |
C |
8: 79,052,106 (GRCm39) |
E329A |
probably benign |
Het |
| Vmn1r117 |
T |
G |
7: 20,617,160 (GRCm39) |
D296A |
possibly damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,765 (GRCm39) |
N182S |
probably benign |
Het |
| Vps53 |
C |
A |
11: 76,007,999 (GRCm39) |
R287L |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,079,783 (GRCm39) |
N334S |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,687 (GRCm39) |
H282R |
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 |
|
|
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 |
|
|
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'- TCCAGGTGCCTTTCATACGG -3'
(R):5'- CTAGCAAAGGATGTTTTGAAGGTTG -3'
Sequencing Primer
(F):5'- GGTGCCTTTCATACGGCAAAAC -3'
(R):5'- AAAGGATGTTTTGAAGGTTGCTATTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation