Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01094:Kdr'

51088

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 #

IGL01094

Quality Score

Status

Chromosome

Chromosomal Location

76093487-76139118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76122420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 502 (Y502N)

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: Y502N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: Y502N

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	A	T	1: 177,612,508 (GRCm39)	H80Q	probably damaging	Het
Ahi1	A	G	10: 20,847,959 (GRCm39)	N456D	probably damaging	Het
Alpk2	T	G	18: 65,439,673 (GRCm39)	E573D	probably damaging	Het
Axin2	G	A	11: 108,814,501 (GRCm39)	V130M	probably damaging	Het
Cadm4	T	C	7: 24,202,184 (GRCm39)	L341P	possibly damaging	Het
Col20a1	G	A	2: 180,641,559 (GRCm39)	C625Y	probably damaging	Het
Col6a3	T	G	1: 90,731,655 (GRCm39)	I1533L	possibly damaging	Het
Dusp10	A	T	1: 183,769,697 (GRCm39)		probably null	Het
Dysf	T	A	6: 84,171,368 (GRCm39)	I1837N	probably damaging	Het
Fbxw19	A	G	9: 109,322,614 (GRCm39)	S119P	probably benign	Het
Il22ra1	C	A	4: 135,478,395 (GRCm39)	P489T	possibly damaging	Het
Il7r	A	T	15: 9,508,085 (GRCm39)	N412K	possibly damaging	Het
Med12l	T	A	3: 59,001,076 (GRCm39)	L713H	probably damaging	Het
Nfxl1	A	G	5: 72,707,771 (GRCm39)		probably benign	Het
Or4a70	A	G	2: 89,324,182 (GRCm39)	V158A	probably benign	Het
Piezo1	T	A	8: 123,208,877 (GRCm39)	E2495D	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,325 (GRCm39)	F2611L	probably benign	Het
Pld2	T	C	11: 70,432,132 (GRCm39)	C84R	probably damaging	Het
Prss3l	A	G	6: 41,420,357 (GRCm39)	V123A	possibly damaging	Het
Scfd2	G	T	5: 74,691,707 (GRCm39)	P192T	possibly damaging	Het
Tm4sf19	A	G	16: 32,224,772 (GRCm39)	N40S	possibly damaging	Het
Tmc2	T	C	2: 130,102,086 (GRCm39)		probably benign	Het
Tmem217	T	C	17: 29,745,566 (GRCm39)	R55G	probably benign	Het
Unc80	A	G	1: 66,734,592 (GRCm39)	D3205G	possibly damaging	Het
Vps13c	A	G	9: 67,793,566 (GRCm39)	N440D	probably damaging	Het
Wdr35	T	C	12: 9,055,838 (GRCm39)		probably benign	Het
Zfp110	T	A	7: 12,583,723 (GRCm39)	H790Q	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
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
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

2013-06-21