Incidental Mutation 'R7310:Kdr'
| ID |
567492 |
| 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 |
045409-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76104985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1082
(I1082F)
|
| 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: I1082F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: I1082F
| 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: 99.6%
- 20x: 98.8%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
A |
T |
11: 58,771,094 (GRCm39) |
Q192L |
possibly damaging |
Het |
| Abat |
G |
A |
16: 8,423,457 (GRCm39) |
R250Q |
probably null |
Het |
| Abcg3 |
A |
C |
5: 105,114,632 (GRCm39) |
F295C |
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,690,604 (GRCm39) |
S708P |
possibly damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,972 (GRCm39) |
Y489* |
probably null |
Het |
| Akr1c6 |
A |
T |
13: 4,486,354 (GRCm39) |
M54L |
probably benign |
Het |
| Arhgap5 |
A |
T |
12: 52,589,270 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
G |
15: 63,971,379 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
T |
19: 57,630,856 (GRCm39) |
N208Y |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTTCTGTGGTCACTG |
GTTCTGTGGTCACTGATTCTGTGGTCACTG |
3: 95,795,485 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
G |
GGGGTCACTGGTTCTT |
3: 95,795,460 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
3: 95,795,451 (GRCm39) |
|
probably benign |
Het |
| Bmi1 |
T |
C |
2: 18,689,230 (GRCm39) |
S305P |
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,798,891 (GRCm39) |
I431F |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,993 (GRCm39) |
M349L |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,519,914 (GRCm39) |
D428V |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,217,005 (GRCm39) |
Q363P |
probably null |
Het |
| Cdca2 |
A |
T |
14: 67,950,673 (GRCm39) |
L86H |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,214 (GRCm39) |
S769* |
probably null |
Het |
| Cdhr17 |
A |
G |
5: 17,075,246 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Cep164 |
T |
C |
9: 45,686,664 (GRCm39) |
E690G |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,560,285 (GRCm39) |
H1304R |
probably benign |
Het |
| Daxx |
C |
A |
17: 34,129,435 (GRCm39) |
D5E |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,636,127 (GRCm39) |
M1117V |
possibly damaging |
Het |
| Entpd3 |
T |
A |
9: 120,389,821 (GRCm39) |
|
probably null |
Het |
| Esr1 |
G |
A |
10: 4,889,259 (GRCm39) |
A386T |
probably damaging |
Het |
| Etv5 |
G |
A |
16: 22,220,487 (GRCm39) |
P300L |
probably benign |
Het |
| Exoc3l |
A |
T |
8: 106,020,340 (GRCm39) |
L195Q |
probably damaging |
Het |
| Exog |
T |
C |
9: 119,274,069 (GRCm39) |
L18P |
unknown |
Het |
| Fgfr1 |
T |
A |
8: 26,052,331 (GRCm39) |
V219D |
probably benign |
Het |
| Gna14 |
A |
T |
19: 16,511,113 (GRCm39) |
Q54L |
|
Het |
| Gnb5 |
T |
C |
9: 75,221,570 (GRCm39) |
L48P |
probably benign |
Het |
| Gpbp1 |
A |
G |
13: 111,589,924 (GRCm39) |
I57T |
probably benign |
Het |
| Hnrnpa1 |
T |
A |
15: 103,149,884 (GRCm39) |
D48E |
probably damaging |
Het |
| Hrc |
T |
A |
7: 44,985,227 (GRCm39) |
L126* |
probably null |
Het |
| Hspa8 |
T |
G |
9: 40,714,704 (GRCm39) |
D333E |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,338,895 (GRCm39) |
V403D |
probably benign |
Het |
| Itga10 |
C |
A |
3: 96,555,475 (GRCm39) |
A143D |
probably damaging |
Het |
| Klk1b11 |
A |
T |
7: 43,428,254 (GRCm39) |
I242F |
probably damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Map1b |
G |
A |
13: 99,570,163 (GRCm39) |
P853S |
unknown |
Het |
| Mmp13 |
T |
C |
9: 7,280,880 (GRCm39) |
I421T |
possibly damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,439,615 (GRCm39) |
T358S |
probably damaging |
Het |
| Msantd5l |
A |
C |
11: 51,145,474 (GRCm39) |
W38G |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,800,783 (GRCm39) |
D759G |
probably damaging |
Het |
| Mup17 |
T |
A |
4: 61,511,929 (GRCm39) |
Y115F |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,541,697 (GRCm39) |
A79S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,778,436 (GRCm39) |
N1397K |
probably benign |
Het |
| Nadk2 |
T |
C |
15: 9,103,469 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
A |
T |
5: 134,250,615 (GRCm39) |
S402T |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,941,188 (GRCm39) |
D145G |
probably damaging |
Het |
| Nlgn2 |
G |
A |
11: 69,721,409 (GRCm39) |
T163M |
possibly damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,801 (GRCm39) |
H172Q |
|
Het |
| Nup205 |
T |
A |
6: 35,202,904 (GRCm39) |
D1370E |
possibly damaging |
Het |
| Or1e32 |
A |
C |
11: 73,705,112 (GRCm39) |
N265K |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,892 (GRCm39) |
I300N |
probably damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,637 (GRCm39) |
F169S |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,750,773 (GRCm39) |
V1746A |
probably benign |
Het |
| Plin2 |
T |
A |
4: 86,586,628 (GRCm39) |
I68F |
probably benign |
Het |
| Proc |
A |
T |
18: 32,268,952 (GRCm39) |
M11K |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,995,631 (GRCm39) |
V950A |
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,317,972 (GRCm39) |
K362E |
probably benign |
Het |
| Rnf208 |
C |
A |
2: 25,133,587 (GRCm39) |
P94T |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,571,011 (GRCm39) |
Y269* |
probably null |
Het |
| Senp7 |
T |
C |
16: 56,006,445 (GRCm39) |
V950A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,419,269 (GRCm39) |
V649A |
probably damaging |
Het |
| Sipa1l3 |
G |
T |
7: 29,099,121 (GRCm39) |
H383N |
probably benign |
Het |
| Slc12a5 |
G |
A |
2: 164,834,360 (GRCm39) |
V794M |
probably damaging |
Het |
| Slc7a7 |
A |
G |
14: 54,616,482 (GRCm39) |
I200T |
probably damaging |
Het |
| Spdye4b |
A |
C |
5: 143,188,103 (GRCm39) |
I199L |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,926,300 (GRCm39) |
T1104I |
possibly damaging |
Het |
| Tle4 |
A |
T |
19: 14,495,155 (GRCm39) |
H191Q |
probably benign |
Het |
| Tnfsf13b |
C |
A |
8: 10,081,651 (GRCm39) |
S271* |
probably null |
Het |
| Tnks2 |
G |
A |
19: 36,856,839 (GRCm39) |
V855I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,196,194 (GRCm39) |
L1406S |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,906,608 (GRCm39) |
N448I |
probably benign |
Het |
| Trim31 |
T |
A |
17: 37,218,194 (GRCm39) |
M308K |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,214,138 (GRCm39) |
V502E |
possibly damaging |
Het |
| Usp10 |
A |
C |
8: 120,668,344 (GRCm39) |
D215A |
possibly damaging |
Het |
| Usp33 |
T |
G |
3: 152,066,026 (GRCm39) |
L102* |
probably null |
Het |
| Wdr12 |
A |
T |
1: 60,121,734 (GRCm39) |
C272* |
probably null |
Het |
| Xndc1 |
A |
C |
7: 101,727,938 (GRCm39) |
|
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,089,276 (GRCm39) |
I332V |
possibly damaging |
Het |
| Zswim5 |
A |
T |
4: 116,841,885 (GRCm39) |
T822S |
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 |
|
|
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 |
|
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'- AAGCTGAAAAGCCCGATTCTTG -3'
(R):5'- GGCTATTCAGGTGTGGAATTCC -3'
Sequencing Primer
(F):5'- GCTGAAAAGCCCGATTCTTGTACATC -3'
(R):5'- GAATTCCAACTTTGTGTGGATTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation