Mutagenetix > Incidental Mutation

Incidental Mutation 'R2904:Kdr'

261572

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

040491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76093487-76139118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76127069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 307 (Y307C)

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: Y307C

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

SMART Domains

Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: Y307C

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

0.7637

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (30/31)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	T	C	5: 100,957,673 (GRCm39)	E182G	probably benign	Het
Acot4	C	G	12: 84,090,377 (GRCm39)	T358S	probably benign	Het
Ap2a2	A	G	7: 141,199,391 (GRCm39)	K433E	probably damaging	Het
Card11	T	A	5: 140,874,888 (GRCm39)	D592V	probably benign	Het
Col12a1	G	T	9: 79,559,307 (GRCm39)	S1860R	probably damaging	Het
Crisp1	C	T	17: 40,623,895 (GRCm39)		probably null	Het
Dzip1l	A	G	9: 99,545,722 (GRCm39)	E657G	probably damaging	Het
Gak	T	C	5: 108,772,080 (GRCm39)	N79S	possibly damaging	Het
Gm9791	T	C	3: 34,059,336 (GRCm39)		noncoding transcript	Het
Gmpr2	T	C	14: 55,910,215 (GRCm39)	V15A	probably damaging	Het
Hectd4	T	C	5: 121,430,787 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,378,037 (GRCm39)	V283A	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdm4b	G	A	17: 56,662,884 (GRCm39)	G152S	probably benign	Het
Kdm6b	G	A	11: 69,296,611 (GRCm39)	T552I	possibly damaging	Het
Kif11	T	C	19: 37,392,103 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Madd	C	T	2: 91,006,017 (GRCm39)	V20M	probably damaging	Het
Mkrn3	C	A	7: 62,068,207 (GRCm39)	R528L	probably benign	Het
Myom2	T	C	8: 15,148,348 (GRCm39)	V508A	probably benign	Het
Nav1	T	C	1: 135,512,976 (GRCm39)	D28G	probably benign	Het
Nlrp4b	T	A	7: 10,448,294 (GRCm39)	W166R	probably damaging	Het
Or14j2	A	T	17: 37,885,705 (GRCm39)	L203Q	possibly damaging	Het
Or5p59	T	C	7: 107,702,806 (GRCm39)	Y97H	probably benign	Het
Rassf10	A	T	7: 112,553,756 (GRCm39)	D119V	possibly damaging	Het
Smarcc1	A	G	9: 110,003,043 (GRCm39)	N378D	possibly damaging	Het
Tas2r118	A	G	6: 23,969,801 (GRCm39)	F87L	possibly damaging	Het
Tasor2	T	C	13: 3,632,185 (GRCm39)	N772S	possibly damaging	Het
Trim21	A	G	7: 102,209,178 (GRCm39)	W282R	probably benign	Het
Uggt2	T	A	14: 119,296,521 (GRCm39)	Y447F	possibly damaging	Het
Zfp160	G	A	17: 21,245,911 (GRCm39)	V154I	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
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
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'- GTCCCTGACTCTAAAGGTATGC -3'
(R):5'- GAGCTATTGGACAGTGCTCTG -3'

Sequencing Primer
(F):5'- AGGTCTTGTGCCCTCATTAACAAG -3'
(R):5'- TGCTGGGACGTGAACATTTACTAGAC -3'

Posted On

2015-01-23