Incidental Mutation 'R1713:Kdr'
| ID |
190763 |
| 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 |
039746-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76093487-76139118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76129127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
| 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: V173A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: V173A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202473
|
| Meta Mutation Damage Score |
0.0648 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (96/98) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,127,964 (GRCm39) |
I54F |
possibly damaging |
Het |
| Ackr1 |
A |
T |
1: 173,159,916 (GRCm39) |
H134Q |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,473 (GRCm39) |
F44L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,989,173 (GRCm39) |
D3486N |
possibly damaging |
Het |
| Akap9 |
T |
C |
5: 4,089,345 (GRCm39) |
|
probably null |
Het |
| Anks6 |
T |
A |
4: 47,039,726 (GRCm39) |
Q495L |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,896,237 (GRCm39) |
S684P |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,983,531 (GRCm39) |
E2911G |
probably damaging |
Het |
| Avpi1 |
C |
T |
19: 42,113,248 (GRCm39) |
E70K |
probably damaging |
Het |
| Btbd17 |
G |
T |
11: 114,686,650 (GRCm39) |
P9T |
probably benign |
Het |
| C4b |
A |
G |
17: 34,948,245 (GRCm39) |
|
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,497,785 (GRCm39) |
V385A |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,624,104 (GRCm39) |
D299G |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,730,307 (GRCm39) |
K179N |
probably benign |
Het |
| Col1a2 |
T |
C |
6: 4,538,691 (GRCm39) |
S1204P |
unknown |
Het |
| Col24a1 |
C |
T |
3: 145,072,624 (GRCm39) |
Q780* |
probably null |
Het |
| Cxadr |
C |
A |
16: 78,131,133 (GRCm39) |
N216K |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 71,942,656 (GRCm39) |
T40I |
unknown |
Het |
| Dab2 |
C |
T |
15: 6,459,182 (GRCm39) |
P365S |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,001,139 (GRCm39) |
I2402N |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,663,988 (GRCm39) |
S1954R |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,131,891 (GRCm39) |
T1639A |
probably benign |
Het |
| Ebf1 |
A |
T |
11: 44,815,393 (GRCm39) |
I336F |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,482,881 (GRCm39) |
N290S |
possibly damaging |
Het |
| Gabra2 |
A |
G |
5: 71,171,906 (GRCm39) |
I110T |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,773,210 (GRCm39) |
N203S |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,424,448 (GRCm39) |
T806A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,080,889 (GRCm39) |
T789A |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,617,546 (GRCm39) |
T22A |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,894,315 (GRCm39) |
I1312N |
probably damaging |
Het |
| Kdm4c |
A |
G |
4: 74,216,721 (GRCm39) |
D160G |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,455,202 (GRCm39) |
S1575P |
probably benign |
Het |
| Lcp1 |
G |
A |
14: 75,436,884 (GRCm39) |
|
probably null |
Het |
| Lipe |
C |
A |
7: 25,084,750 (GRCm39) |
S516I |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,272,487 (GRCm39) |
I6429T |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,468,458 (GRCm39) |
E1012K |
probably benign |
Het |
| Map3k5 |
T |
C |
10: 19,986,593 (GRCm39) |
F936L |
possibly damaging |
Het |
| Mllt3 |
A |
T |
4: 87,701,901 (GRCm39) |
N497K |
probably damaging |
Het |
| Moxd1 |
G |
A |
10: 24,157,394 (GRCm39) |
G342D |
probably damaging |
Het |
| Mtdh |
A |
C |
15: 34,114,985 (GRCm39) |
Q202H |
possibly damaging |
Het |
| Nav1 |
A |
G |
1: 135,522,972 (GRCm39) |
|
probably benign |
Het |
| Nop56 |
T |
C |
2: 130,119,886 (GRCm39) |
V109A |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,970,712 (GRCm39) |
D2540G |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,393,679 (GRCm39) |
I60V |
probably benign |
Het |
| Or10q12 |
A |
T |
19: 13,746,659 (GRCm39) |
T318S |
probably benign |
Het |
| Or12e9 |
A |
T |
2: 87,202,290 (GRCm39) |
Y138F |
probably damaging |
Het |
| Osbpl5 |
G |
A |
7: 143,248,110 (GRCm39) |
H652Y |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,182,192 (GRCm39) |
|
probably benign |
Het |
| Pcdhb3 |
A |
C |
18: 37,436,375 (GRCm39) |
E780D |
probably benign |
Het |
| Pik3c3 |
A |
G |
18: 30,456,639 (GRCm39) |
D723G |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,612,958 (GRCm39) |
V3172A |
probably benign |
Het |
| Psme4 |
G |
T |
11: 30,756,310 (GRCm39) |
W272L |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rhobtb1 |
A |
C |
10: 69,108,601 (GRCm39) |
S434R |
probably benign |
Het |
| Rhobtb1 |
G |
C |
10: 69,108,602 (GRCm39) |
S434T |
possibly damaging |
Het |
| Rnf8 |
T |
C |
17: 29,853,735 (GRCm39) |
F413S |
probably damaging |
Het |
| Rpn2 |
A |
G |
2: 157,156,888 (GRCm39) |
N497S |
probably damaging |
Het |
| Rsbn1l |
G |
T |
5: 21,156,488 (GRCm39) |
P99Q |
probably benign |
Het |
| Serpinb3b |
A |
T |
1: 107,083,164 (GRCm39) |
M246K |
probably benign |
Het |
| Sgsm2 |
T |
C |
11: 74,787,652 (GRCm39) |
E19G |
probably null |
Het |
| Shank1 |
A |
G |
7: 43,969,161 (GRCm39) |
H352R |
unknown |
Het |
| Slc17a7 |
A |
G |
7: 44,819,728 (GRCm39) |
I177V |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,281,494 (GRCm39) |
F228I |
probably damaging |
Het |
| Slc35b4 |
C |
T |
6: 34,147,484 (GRCm39) |
V35I |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,476,641 (GRCm39) |
I407V |
probably damaging |
Het |
| Slc39a13 |
A |
G |
2: 90,893,442 (GRCm39) |
V326A |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,944,743 (GRCm39) |
L120P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,104,140 (GRCm39) |
I214T |
probably damaging |
Het |
| Slitrk3 |
A |
C |
3: 72,957,024 (GRCm39) |
S583A |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,297,728 (GRCm39) |
Y180C |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,907,538 (GRCm39) |
K1483I |
probably benign |
Het |
| Ssrp1 |
C |
A |
2: 84,871,104 (GRCm39) |
H247N |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,137,460 (GRCm39) |
|
probably benign |
Het |
| Syde1 |
C |
T |
10: 78,421,530 (GRCm39) |
G674R |
probably damaging |
Het |
| Tent4a |
A |
T |
13: 69,651,170 (GRCm39) |
I565N |
probably benign |
Het |
| Themis3 |
G |
A |
17: 66,862,848 (GRCm39) |
S370L |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,554,907 (GRCm39) |
N259Y |
probably damaging |
Het |
| Tnip2 |
T |
G |
5: 34,661,175 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
C |
14: 16,409,823 (GRCm38) |
V830A |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,292,802 (GRCm39) |
N934K |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,857,069 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,573,965 (GRCm39) |
I17316L |
possibly damaging |
Het |
| Tufm |
T |
C |
7: 126,086,871 (GRCm39) |
V52A |
probably benign |
Het |
| Vamp8 |
T |
A |
6: 72,365,270 (GRCm39) |
N20I |
probably benign |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,288 (GRCm39) |
H230L |
probably benign |
Het |
| Vmn2r50 |
T |
G |
7: 9,771,731 (GRCm39) |
T657P |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,342,762 (GRCm39) |
G1668R |
probably benign |
Het |
| Zik1 |
C |
A |
7: 10,224,311 (GRCm39) |
R262L |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,220,501 (GRCm39) |
Y99D |
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 |
|
R1183:Kdr
|
UTSW |
5 |
76,107,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TACACCTTGCTCGCCAGGATACTC -3'
(R):5'- TGTCAGTGACCAGCATGGCATC -3'
Sequencing Primer
(F):5'- TCGCCAGGATACTCACGTAG -3'
(R):5'- AAAACTGTGGTGATCCCCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation