Mutagenetix > Incidental Mutation

Incidental Mutation 'R2894:Kdr'

260693

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

040482-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76093487-76139118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76107496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1016 (F1016L)

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: F1016L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: F1016L

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Acox3	A	G	5: 35,757,192 (GRCm39)	I344V	probably benign	Het
Ank2	T	C	3: 127,041,892 (GRCm39)		probably null	Het
Ccl4	C	A	11: 83,554,329 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cdk5rap2	T	C	4: 70,208,110 (GRCm39)	K779E	probably benign	Het
Cenpu	C	A	8: 47,029,384 (GRCm39)	N212K	probably damaging	Het
Dcun1d2	A	T	8: 13,328,649 (GRCm39)	I86N	probably damaging	Het
Dnah1	T	A	14: 31,020,718 (GRCm39)	E1217V	possibly damaging	Het
Dusp15	T	C	2: 152,791,005 (GRCm39)	I31V	probably benign	Het
Ern2	A	C	7: 121,780,810 (GRCm39)	S114A	possibly damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fmo6	C	T	1: 162,750,293 (GRCm39)	W254*	probably null	Het
Gm16494	T	C	17: 47,327,632 (GRCm39)	E84G	unknown	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Mdga1	T	C	17: 30,071,478 (GRCm39)	Y381C	probably damaging	Het
Msh3	G	T	13: 92,478,868 (GRCm39)	A367D	probably benign	Het
Nadk	A	G	4: 155,671,817 (GRCm39)	N232S	possibly damaging	Het
Or51e1	A	G	7: 102,358,882 (GRCm39)	T139A	probably damaging	Het
Or7g29	A	T	9: 19,286,588 (GRCm39)	Y196*	probably null	Het
Per2	C	A	1: 91,373,325 (GRCm39)	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,364,500 (GRCm39)	A73V	probably benign	Het
Pramel16	A	T	4: 143,675,692 (GRCm39)	M378K	probably damaging	Het
Rad18	G	A	6: 112,652,734 (GRCm39)	Q288*	probably null	Het
Rarb	T	C	14: 16,435,146 (GRCm38)	D300G	probably damaging	Het
Ruvbl1	C	T	6: 88,456,114 (GRCm39)	R63W	possibly damaging	Het
Setdb2	T	C	14: 59,663,916 (GRCm39)	N77S	probably benign	Het
Slc22a19	C	A	19: 7,670,169 (GRCm39)	K228N	probably benign	Het
Thoc6	A	G	17: 23,888,009 (GRCm39)	S292P	probably damaging	Het
Tmem126b	A	T	7: 90,120,121 (GRCm39)	S83R	probably damaging	Het
Tmem232	C	T	17: 65,757,408 (GRCm39)	E262K	probably damaging	Het
Vmn2r60	T	C	7: 41,785,220 (GRCm39)	V144A	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vwa8	A	G	14: 79,275,578 (GRCm39)	N787S	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
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
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'- TTTCATGAAACCTCTAGCCACC -3'
(R):5'- GTTTCTGGTTCCTGAAATTAACCC -3'

Sequencing Primer
(F):5'- CTTTTATTAGCAGAAACAGAGCCTCC -3'
(R):5'- CCCTCAGGTCTTAAATAGATCATGG -3'

Posted On

2015-01-23