Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02200:Kdr'

284174

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL02200

Quality Score

Status

Chromosome

Chromosomal Location

76093487-76139118 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 76110762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960

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

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
Abca4	A	G	3: 121,862,663 (GRCm39)	E207G	probably benign	Het
Ahi1	T	C	10: 20,857,213 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,536,302 (GRCm39)	V97E	probably damaging	Het
Cadps2	T	C	6: 23,385,527 (GRCm39)	Y736C	probably damaging	Het
Cdon	T	C	9: 35,394,405 (GRCm39)	W884R	probably benign	Het
Cflar	A	G	1: 58,791,828 (GRCm39)	D380G	probably damaging	Het
Clca3a1	A	T	3: 144,457,690 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,547,190 (GRCm39)	S316P	probably damaging	Het
Crispld1	T	C	1: 17,820,557 (GRCm39)		probably benign	Het
Diaph1	G	A	18: 38,023,735 (GRCm39)	P701L	unknown	Het
Dip2b	T	C	15: 100,049,083 (GRCm39)	L159P	possibly damaging	Het
Dock1	A	G	7: 134,346,000 (GRCm39)	T181A	probably benign	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Gm2663	A	G	6: 40,972,947 (GRCm39)	V220A	probably benign	Het
Gpi-ps	A	G	8: 5,689,968 (GRCm39)		noncoding transcript	Het
Grik1	A	G	16: 87,737,453 (GRCm39)	F614L	probably damaging	Het
Htr2a	T	A	14: 74,943,605 (GRCm39)	I395N	probably damaging	Het
Itsn2	A	G	12: 4,686,632 (GRCm39)	D528G	probably damaging	Het
M6pr	A	G	6: 122,292,027 (GRCm39)	M120V	probably benign	Het
Mettl13	G	A	1: 162,366,392 (GRCm39)		probably benign	Het
Mtfmt	A	G	9: 65,356,063 (GRCm39)		probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Ogfrl1	C	T	1: 23,409,150 (GRCm39)	V359I	probably benign	Het
Or51f1d	C	T	7: 102,701,000 (GRCm39)	T165I	probably benign	Het
Ovch2	T	C	7: 107,394,030 (GRCm39)	Y141C	probably damaging	Het
Pwwp2a	A	C	11: 43,596,955 (GRCm39)	I432L	possibly damaging	Het
Ryr3	C	T	2: 112,679,855 (GRCm39)	V1245M	probably damaging	Het
Sis	T	C	3: 72,850,937 (GRCm39)	H587R	probably damaging	Het
Snrnp40	A	G	4: 130,254,014 (GRCm39)	K6E	probably damaging	Het
Snx13	A	T	12: 35,136,884 (GRCm39)	D115V	probably damaging	Het
Sohlh2	C	A	3: 55,097,977 (GRCm39)	T143K	probably damaging	Het
Spag4	T	C	2: 155,908,517 (GRCm39)	L55S	probably benign	Het
Trgc2	T	C	13: 19,491,521 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,451,187 (GRCm39)	S358P	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
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
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

Posted On

2015-04-16