Incidental Mutation 'R1183:Kdr'
| ID |
101725 |
| 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 |
039255-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76107511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1011
(A1011T)
|
| 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: A1011T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: A1011T
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,768,206 (GRCm39) |
Y192* |
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,634,677 (GRCm39) |
Y1100C |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,974,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,416 (GRCm39) |
V497E |
probably damaging |
Het |
| Adtrp |
T |
G |
13: 41,981,813 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,833 (GRCm39) |
L201Q |
possibly damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,856,121 (GRCm39) |
I84K |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,725 (GRCm39) |
S288P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,949,452 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,846 (GRCm39) |
D1367G |
probably damaging |
Het |
| Card19 |
C |
T |
13: 49,358,727 (GRCm39) |
R82Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,292,372 (GRCm39) |
I226V |
possibly damaging |
Het |
| Ces1f |
A |
C |
8: 93,994,633 (GRCm39) |
D259E |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,416,611 (GRCm39) |
M1072K |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 24,119,468 (GRCm39) |
V94D |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,474 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,416,255 (GRCm39) |
T719A |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,375,716 (GRCm39) |
W1167* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,758,305 (GRCm39) |
I1874V |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,003,926 (GRCm39) |
T645A |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,837,621 (GRCm39) |
L222S |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,191,731 (GRCm39) |
C495S |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,537 (GRCm39) |
D2106E |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,913,936 (GRCm39) |
N65I |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,755,763 (GRCm39) |
Y497H |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,625,404 (GRCm39) |
D2376E |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,764,662 (GRCm39) |
T453A |
possibly damaging |
Het |
| Galnt1 |
G |
T |
18: 24,404,647 (GRCm39) |
W328L |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,372 (GRCm39) |
V97A |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,693,707 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gdf15 |
A |
G |
8: 71,084,202 (GRCm39) |
F21L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,029,182 (GRCm39) |
F273S |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,421,725 (GRCm39) |
R786W |
possibly damaging |
Het |
| Itfg1 |
T |
G |
8: 86,507,152 (GRCm39) |
E236A |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,137,194 (GRCm39) |
I752F |
probably damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,306,985 (GRCm39) |
G144W |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,109,598 (GRCm39) |
H925R |
probably benign |
Het |
| Kif13b |
C |
A |
14: 65,019,826 (GRCm39) |
H1398Q |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,307,864 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
T |
C |
6: 119,297,846 (GRCm39) |
D65G |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,128,715 (GRCm39) |
L10P |
probably damaging |
Het |
| Metap2 |
A |
T |
10: 93,706,046 (GRCm39) |
N245K |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,943,270 (GRCm39) |
D297G |
possibly damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,573 (GRCm39) |
D340G |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,256,436 (GRCm39) |
L243P |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,842,897 (GRCm39) |
I105T |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,748,571 (GRCm39) |
S1967P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,100,585 (GRCm39) |
N2248S |
possibly damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,432,008 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,067,252 (GRCm39) |
M764K |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,492,948 (GRCm39) |
L222P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,529,256 (GRCm39) |
S1753G |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,939,179 (GRCm39) |
V2070I |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,219,824 (GRCm39) |
V961A |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,158 (GRCm39) |
S169L |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,335 (GRCm39) |
S542T |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,731 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,647 (GRCm39) |
L71F |
probably benign |
Het |
| Ramp3 |
A |
G |
11: 6,624,867 (GRCm39) |
K54E |
possibly damaging |
Het |
| Rbpms |
C |
A |
8: 34,294,100 (GRCm39) |
Q214H |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
A |
9: 37,319,348 (GRCm39) |
D565E |
probably damaging |
Het |
| S100a1 |
C |
T |
3: 90,418,641 (GRCm39) |
V58I |
probably benign |
Het |
| Setx |
T |
A |
2: 29,070,104 (GRCm39) |
D2636E |
probably benign |
Het |
| Sun2 |
A |
T |
15: 79,612,669 (GRCm39) |
V417E |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,519 (GRCm39) |
N99S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,893 (GRCm39) |
D1441G |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,628 (GRCm39) |
Y395C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,398 (GRCm39) |
Y1129H |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,275,813 (GRCm39) |
R470S |
probably damaging |
Het |
| Tsg101 |
G |
T |
7: 46,539,372 (GRCm39) |
D389E |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,406 (GRCm39) |
L46P |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,997,419 (GRCm39) |
I1745V |
possibly damaging |
Het |
| Usp20 |
T |
C |
2: 30,901,797 (GRCm39) |
Y521H |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,543,019 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,491 (GRCm39) |
E504D |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,867 (GRCm39) |
I612F |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,520 (GRCm39) |
H317R |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,315 (GRCm39) |
S243G |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,419 (GRCm39) |
W73R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,632 (GRCm39) |
D90E |
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 |
|
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 |
|
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'- GCCTCCCTCAGTGGGACACTTAAAAG -3'
(R):5'- TTCCCAAGGAGTCTGATAGAGGCG -3'
Sequencing Primer
(F):5'- TCAGTGGGACACTTAAAAGACTCC -3'
(R):5'- GTTCCTGAAATTAACCCTCAGGTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation