Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02426:Kdr'

292905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdr

Ensembl Gene

ENSMUSG00000062960

Gene Name

kinase insert domain protein receptor

Synonyms

Flk1, vascular endothelial growth factor receptor- 2, VEGF receptor-2, VEGFR2, VEGFR-2, Flk-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02426

Quality Score

Status

Chromosome

Chromosomal Location

75932827-75978458 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75974466 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 33 (K33E)

Ref Sequence

ENSEMBL: ENSMUSP00000109144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113516]

Predicted Effect

probably benign
Transcript: ENSMUST00000113516
AA Change: K33E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: K33E

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,338,925	T1294M	probably damaging	Het
Bad	A	G	19: 6,951,417	S128G	probably damaging	Het
Casp9	T	G	4: 141,812,204		probably null	Het
Ccdc39	T	C	3: 33,825,398	K507R	possibly damaging	Het
Cep76	A	G	18: 67,634,917	S182P	probably benign	Het
Cmtr2	A	G	8: 110,221,690	M211V	possibly damaging	Het
Cobl	T	A	11: 12,254,351	K777*	probably null	Het
Cul9	T	G	17: 46,523,258	T1253P	possibly damaging	Het
Dmd	T	A	X: 84,848,736	L3002H	probably damaging	Het
Dnah9	C	T	11: 66,125,153	V421I	probably benign	Het
Eif4a2	A	G	16: 23,110,649	I234V	probably benign	Het
Epha4	T	C	1: 77,444,877	M323V	probably benign	Het
Fam47c	A	G	X: 78,738,337	D175G	probably benign	Het
Gm13101	T	C	4: 143,966,659	D83G	possibly damaging	Het
Gm14178	T	C	11: 99,747,515			Het
Gpr1	T	C	1: 63,183,668	Y136C	probably damaging	Het
Hes3	T	C	4: 152,286,940	N184S	probably benign	Het
Kdm6a	A	G	X: 18,246,310	E45G	probably damaging	Het
Olfr1097	A	G	2: 86,890,620	L185S	probably damaging	Het
Olfr1281	A	T	2: 111,328,575	D52V	probably damaging	Het
Olfr1295	A	T	2: 111,564,538	I302K	probably benign	Het
Olfr437	A	C	6: 43,167,088	D10A	probably benign	Het
Olfr503	A	G	7: 108,544,980	T150A	probably benign	Het
Pi4ka	A	T	16: 17,378,432		probably benign	Het
Pigk	T	A	3: 152,742,483		probably null	Het
Pikfyve	A	G	1: 65,251,612	T1197A	possibly damaging	Het
Plppr4	T	C	3: 117,322,295	I638V	probably benign	Het
Rtl9	T	C	X: 143,103,102	V1170A	probably damaging	Het
Ryr3	A	G	2: 112,900,905	S687P	possibly damaging	Het
Skint5	T	C	4: 113,940,784	T201A	probably benign	Het
Socs5	G	T	17: 87,134,892	R420L	probably damaging	Het
Sos1	C	T	17: 80,434,943	S385N	possibly damaging	Het
Tomm34	A	T	2: 164,064,955	V106D	probably damaging	Het
Tubal3	T	C	13: 3,932,750	S177P	probably damaging	Het
Wbp2nl	G	A	15: 82,306,173	A101T	probably damaging	Het

Other mutations in Kdr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Kdr	APN	5	75968750	missense	probably damaging	1.00
IGL01094:Kdr	APN	5	75961760	missense	probably benign	0.00
IGL01310:Kdr	APN	5	75949601	missense	probably damaging	1.00
IGL01689:Kdr	APN	5	75936840	missense	probably benign	0.01
IGL01986:Kdr	APN	5	75952859	missense	probably benign	0.18
IGL02065:Kdr	APN	5	75961853	splice site	probably benign
IGL02200:Kdr	APN	5	75950102	splice site	probably benign
IGL02272:Kdr	APN	5	75961840	missense	probably benign
IGL02483:Kdr	APN	5	75936294	critical splice donor site	probably null
IGL02543:Kdr	APN	5	75964947	splice site	probably benign
IGL02590:Kdr	APN	5	75936323	missense	probably benign	0.00
IGL03204:Kdr	APN	5	75972382	missense	possibly damaging	0.96
IGL03228:Kdr	APN	5	75957048	missense	probably damaging	0.97
IGL03265:Kdr	APN	5	75960773	missense	probably damaging	1.00
engelein	UTSW	5	75952889	missense	probably damaging	1.00
PIT4131001:Kdr	UTSW	5	75941971	splice site	probably benign
PIT4519001:Kdr	UTSW	5	75936896	missense	possibly damaging	0.86
R0133:Kdr	UTSW	5	75951838	missense	probably damaging	1.00
R0197:Kdr	UTSW	5	75968422	missense	possibly damaging	0.82
R0282:Kdr	UTSW	5	75950100	splice site	probably benign
R0309:Kdr	UTSW	5	75946927	splice site	probably benign
R0371:Kdr	UTSW	5	75941834	missense	probably benign	0.22
R0396:Kdr	UTSW	5	75960728	missense	possibly damaging	0.65
R0498:Kdr	UTSW	5	75959138	missense	probably benign	0.00
R0932:Kdr	UTSW	5	75968805	missense	probably benign	0.02
R1077:Kdr	UTSW	5	75956231	missense	probably damaging	1.00
R1183:Kdr	UTSW	5	75946851	missense	probably damaging	1.00
R1713:Kdr	UTSW	5	75968467	missense	probably benign	0.03
R1853:Kdr	UTSW	5	75952905	missense	possibly damaging	0.67
R1854:Kdr	UTSW	5	75952905	missense	possibly damaging	0.67
R2142:Kdr	UTSW	5	75968423	missense	possibly damaging	0.56
R2238:Kdr	UTSW	5	75949519	missense	possibly damaging	0.78
R2891:Kdr	UTSW	5	75946836	missense	probably damaging	1.00
R2893:Kdr	UTSW	5	75946836	missense	probably damaging	1.00
R2894:Kdr	UTSW	5	75946836	missense	probably damaging	1.00
R2903:Kdr	UTSW	5	75966409	missense	probably damaging	1.00
R2904:Kdr	UTSW	5	75966409	missense	probably damaging	1.00
R3155:Kdr	UTSW	5	75968405	missense	probably benign	0.02
R3939:Kdr	UTSW	5	75972429	nonsense	probably null
R4051:Kdr	UTSW	5	75968408	missense	probably benign
R4151:Kdr	UTSW	5	75957101	missense	possibly damaging	0.94
R4433:Kdr	UTSW	5	75943925	missense	possibly damaging	0.61
R4687:Kdr	UTSW	5	75968792	missense	possibly damaging	0.81
R4691:Kdr	UTSW	5	75944599	missense	possibly damaging	0.79
R5185:Kdr	UTSW	5	75952417	splice site	probably null
R5544:Kdr	UTSW	5	75960743	nonsense	probably null
R6083:Kdr	UTSW	5	75944366	missense	probably damaging	1.00
R6477:Kdr	UTSW	5	75968841	missense	probably benign	0.02
R6568:Kdr	UTSW	5	75961774	missense	probably benign	0.01
R6647:Kdr	UTSW	5	75952889	missense	probably damaging	1.00
R6827:Kdr	UTSW	5	75944545	missense	probably damaging	1.00
R6887:Kdr	UTSW	5	75968451	missense	probably benign	0.00
R6929:Kdr	UTSW	5	75978104	missense	probably benign	0.16
R6993:Kdr	UTSW	5	75972411	missense	probably benign
R7022:Kdr	UTSW	5	75972260	nonsense	probably null
R7050:Kdr	UTSW	5	75950120	missense	probably damaging	1.00
R7099:Kdr	UTSW	5	75944333	missense	probably damaging	0.98
R7274:Kdr	UTSW	5	75964700	missense	probably benign	0.00
R7310:Kdr	UTSW	5	75944325	missense	probably damaging	0.99
R7565:Kdr	UTSW	5	75948843	missense	probably damaging	0.97
X0024:Kdr	UTSW	5	75974406	missense	probably damaging	1.00

Posted On

2015-04-16