Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:Kdr'

32027

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

038602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0396 (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 76121388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 541 (I541V)

Ref Sequence

ENSEMBL: ENSMUSP00000109144 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113516
AA Change: I541V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109144
Gene: ENSMUSG00000062960
AA Change: I541V

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

0.0970

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,412 (GRCm39)	V194I	probably benign	Het
Acsm1	A	T	7: 119,235,678 (GRCm39)	I133F	probably damaging	Het
Adamts9	T	A	6: 92,774,986 (GRCm39)	T1676S	probably benign	Het
Adcy4	T	C	14: 56,009,745 (GRCm39)	D769G	probably benign	Het
Aif1	T	C	17: 35,390,085 (GRCm39)	*148W	probably null	Het
Akna	C	T	4: 63,310,363 (GRCm39)		probably benign	Het
Arhgap32	G	A	9: 32,156,551 (GRCm39)		probably null	Het
Atpaf1	G	A	4: 115,642,449 (GRCm39)	E92K	possibly damaging	Het
Bltp2	T	C	11: 78,159,203 (GRCm39)	V467A	possibly damaging	Het
C1s1	T	C	6: 124,510,313 (GRCm39)	E378G	probably benign	Het
Caprin1	T	A	2: 103,599,914 (GRCm39)	Q108L	probably damaging	Het
Car13	A	T	3: 14,721,299 (GRCm39)	H154L	probably benign	Het
Cdon	C	A	9: 35,381,426 (GRCm39)	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,480,439 (GRCm39)	G70E	probably damaging	Het
Cfap221	G	A	1: 119,881,930 (GRCm39)	T286M	probably benign	Het
Cfap61	T	C	2: 145,791,864 (GRCm39)	F107S	possibly damaging	Het
Coil	C	A	11: 88,872,449 (GRCm39)	T270N	probably benign	Het
Crocc2	T	G	1: 93,151,936 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,019,959 (GRCm39)	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,391 (GRCm39)	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,173,671 (GRCm39)	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,769,673 (GRCm39)	V460G	probably damaging	Het
Depdc7	A	T	2: 104,557,668 (GRCm39)		probably benign	Het
Dgkb	G	A	12: 38,240,134 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,582,226 (GRCm39)	S407R	probably benign	Het
Dnase2a	G	T	8: 85,636,392 (GRCm39)		probably benign	Het
Dqx1	T	G	6: 83,035,986 (GRCm39)	M106R	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Ephx2	T	G	14: 66,345,512 (GRCm39)	I151L	probably benign	Het
Gdf3	C	T	6: 122,584,094 (GRCm39)	G91D	probably damaging	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,198,087 (GRCm39)	H291L	probably benign	Het
H2-T13	A	G	17: 36,394,614 (GRCm39)	I103T	possibly damaging	Het
Hif3a	G	A	7: 16,785,946 (GRCm39)		probably benign	Het
Hmox2	A	T	16: 4,583,627 (GRCm39)	I232L	probably benign	Het
Itgb2	A	G	10: 77,397,023 (GRCm39)	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,055,302 (GRCm39)	T528A	possibly damaging	Het
Khdrbs2	C	A	1: 32,559,054 (GRCm39)	V343L	probably damaging	Het
Kif16b	C	T	2: 142,695,579 (GRCm39)	R175H	probably damaging	Het
Klri2	T	G	6: 129,717,251 (GRCm39)	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,276,180 (GRCm39)	T1773K	probably damaging	Het
Lair1	A	G	7: 4,013,785 (GRCm39)	L154P	probably damaging	Het
Larp1b	G	A	3: 40,924,996 (GRCm39)	V158M	probably damaging	Het
Lgi3	T	A	14: 70,772,280 (GRCm39)	I275N	probably damaging	Het
Lrba	A	G	3: 86,202,486 (GRCm39)	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,605,733 (GRCm39)		probably benign	Het
Mdh2	G	T	5: 135,818,533 (GRCm39)	V263L	probably benign	Het
Myom1	T	A	17: 71,341,688 (GRCm39)	V149E	probably damaging	Het
Nanos1	A	T	19: 60,745,479 (GRCm39)	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,294,725 (GRCm39)		probably benign	Het
Npas3	A	G	12: 53,878,528 (GRCm39)	Y150C	probably damaging	Het
Or10ab4	A	T	7: 107,655,170 (GRCm39)	H327L	probably benign	Het
Or10ag59	T	A	2: 87,405,911 (GRCm39)	V161D	possibly damaging	Het
Or2h1b	C	T	17: 37,462,446 (GRCm39)	C139Y	probably damaging	Het
Or2y1f	A	T	11: 49,184,165 (GRCm39)	I6F	probably benign	Het
Or52e15	G	A	7: 104,645,913 (GRCm39)	A66V	probably damaging	Het
Or8k28	T	C	2: 86,286,363 (GRCm39)	N84S	possibly damaging	Het
Pde4c	A	G	8: 71,202,725 (GRCm39)	N637S	probably benign	Het
Pds5b	T	A	5: 150,702,740 (GRCm39)	V824D	possibly damaging	Het
Pole2	A	T	12: 69,269,160 (GRCm39)		probably benign	Het
Ppig	C	T	2: 69,566,320 (GRCm39)		probably benign	Het
Prep	A	G	10: 44,968,772 (GRCm39)	Y90C	probably damaging	Het
Proca1	A	T	11: 78,085,731 (GRCm39)	R11S	probably damaging	Het
Prph	T	A	15: 98,954,872 (GRCm39)	W313R	probably benign	Het
Prune2	C	T	19: 17,100,444 (GRCm39)	P1983S	probably benign	Het
Ptbp2	G	A	3: 119,517,847 (GRCm39)		probably benign	Het
Rsph6a	C	T	7: 18,808,031 (GRCm39)	P398L	probably damaging	Het
Sdk2	T	C	11: 113,720,793 (GRCm39)	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,058,430 (GRCm39)	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,305,903 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,665,632 (GRCm39)	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,059,142 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,881,045 (GRCm39)	V438A	probably damaging	Het
Sstr4	T	A	2: 148,238,181 (GRCm39)	V264D	probably damaging	Het
Susd2	A	G	10: 75,475,745 (GRCm39)	L418P	probably damaging	Het
Synj1	A	G	16: 90,735,528 (GRCm39)	V1475A	probably benign	Het
Szt2	G	A	4: 118,233,544 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,695,499 (GRCm39)		probably null	Het
Tesk1	A	G	4: 43,446,000 (GRCm39)	E311G	probably damaging	Het
Tmed5	A	T	5: 108,273,882 (GRCm39)	V119E	probably damaging	Het
Tmem260	T	C	14: 48,724,324 (GRCm39)	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,890,707 (GRCm39)	Y350C	probably damaging	Het
Tpte	T	C	8: 22,825,624 (GRCm39)		probably benign	Het
Trim37	A	T	11: 87,037,794 (GRCm39)	D161V	probably damaging	Het
Trrap	C	A	5: 144,751,366 (GRCm39)	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,667,172 (GRCm39)		probably benign	Het
Ttk	T	A	9: 83,729,313 (GRCm39)		probably benign	Het
Vmn1r172	A	G	7: 23,359,957 (GRCm39)	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,565,022 (GRCm39)	S285P	probably damaging	Het
Vmn1r231	C	T	17: 21,110,661 (GRCm39)	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,643 (GRCm39)	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,240,765 (GRCm39)	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,491,513 (GRCm39)	I245L	probably benign	Het
Wdr26	A	T	1: 181,008,216 (GRCm39)		probably benign	Het
Xrcc3	A	T	12: 111,776,391 (GRCm39)	H67Q	probably benign	Het
Zbbx	A	T	3: 74,985,802 (GRCm39)	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,560,922 (GRCm39)	D504G	unknown	Het
Zfp1005	G	A	2: 150,109,973 (GRCm39)	G221D	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zyg11b	A	T	4: 108,112,505 (GRCm39)	F388I	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
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

Predicted Primers

PCR Primer
(F):5'- AGCACAAGTGGAAACCTTCTCTGAC -3'
(R):5'- TGGCAAAGGCAGTTCTTAGCAGC -3'

Sequencing Primer
(F):5'- GGAAACCTTCTCTGACCAGTGATAG -3'
(R):5'- GGTCAGTCTCAgtgtgtgtg -3'

Posted On

2013-04-24