Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Tek'

351367

Institutional Source

Beutler Lab

Gene Symbol

Tek

Ensembl Gene

ENSMUSG00000006386

Gene Name

TEK receptor tyrosine kinase

Synonyms

Cd202b, Tie2, tie-2, Hyk

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94627526-94763213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94669121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

Ref Sequence

ENSEMBL: ENSMUSP00000099862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071168] [ENSMUST00000073939] [ENSMUST00000102798]

AlphaFold

Q02858

Predicted Effect

probably damaging
Transcript: ENSMUST00000071168
AA Change: S41P

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

SMART Domains

Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: S41P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Ig_Tie2_1	23	118	1.2e-57	PFAM
IG_like	128	209	6.52e0	SMART
EGF_Lam	227	264	1.26e-2	SMART
EGF	267	299	2.2e1	SMART
internal_repeat_1	302	346	4.35e-7	PROSPERO
IG_like	356	442	3.29e1	SMART
FN3	445	526	2.11e0	SMART
FN3	541	624	9.77e-5	SMART
FN3	638	720	1.18e-12	SMART
transmembrane domain	747	769	N/A	INTRINSIC
TyrKc	822	1090	1.9e-138	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000073939
AA Change: S41P

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

SMART Domains

Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: S41P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Ig_Tie2_1	23	118	7.1e-58	PFAM
EGF_Lam	176	213	1.26e-2	SMART
EGF	216	248	2.2e1	SMART
internal_repeat_1	251	295	4.22e-7	PROSPERO
FN3	394	475	2.11e0	SMART
FN3	490	573	9.77e-5	SMART
FN3	587	669	1.18e-12	SMART
transmembrane domain	696	718	N/A	INTRINSIC
TyrKc	772	1040	1.9e-138	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102798
AA Change: S41P

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

SMART Domains

Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: S41P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Ig_Tie2_1	24	118	5e-44	PFAM
IG_like	128	209	6.52e0	SMART
EGF_Lam	227	264	1.26e-2	SMART
EGF	267	299	2.2e1	SMART
internal_repeat_1	302	346	4.36e-7	PROSPERO
IG_like	356	442	3.29e1	SMART
FN3	445	526	2.11e0	SMART
FN3	541	624	9.77e-5	SMART
FN3	638	720	1.18e-12	SMART
transmembrane domain	747	769	N/A	INTRINSIC
TyrKc	823	1091	1.9e-138	SMART

Meta Mutation Damage Score

0.3213

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,607,566 (GRCm39)		probably benign	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,271,421 (GRCm39)	D498E	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dlgap1	T	A	17: 71,068,090 (GRCm39)	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	Het

Other mutations in Tek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Tek	APN	4	94,715,538 (GRCm39)	missense	probably benign	0.03
IGL00805:Tek	APN	4	94,686,956 (GRCm39)	missense	probably damaging	1.00
IGL00806:Tek	APN	4	94,686,956 (GRCm39)	missense	probably damaging	1.00
IGL00807:Tek	APN	4	94,686,956 (GRCm39)	missense	probably damaging	1.00
IGL00870:Tek	APN	4	94,761,318 (GRCm39)	nonsense	probably null
IGL01348:Tek	APN	4	94,747,895 (GRCm39)	missense	probably damaging	1.00
IGL01398:Tek	APN	4	94,738,014 (GRCm39)	missense	probably damaging	1.00
IGL01683:Tek	APN	4	94,747,148 (GRCm39)	missense	probably damaging	1.00
IGL01827:Tek	APN	4	94,627,882 (GRCm39)	missense	probably benign	0.24
IGL02063:Tek	APN	4	94,627,882 (GRCm39)	missense	probably benign	0.24
IGL02218:Tek	APN	4	94,743,574 (GRCm39)	missense	probably damaging	1.00
IGL02502:Tek	APN	4	94,741,818 (GRCm39)	critical splice donor site	probably null
IGL02852:Tek	APN	4	94,743,561 (GRCm39)	missense	probably damaging	1.00
IGL02995:Tek	APN	4	94,627,877 (GRCm39)	utr 5 prime	probably benign
IGL03182:Tek	APN	4	94,740,002 (GRCm39)	missense	probably damaging	1.00
IGL03247:Tek	APN	4	94,753,680 (GRCm39)	missense	possibly damaging	0.85
IGL03014:Tek	UTSW	4	94,715,500 (GRCm39)	missense	probably benign	0.05
R0022:Tek	UTSW	4	94,725,509 (GRCm39)	missense	probably damaging	0.98
R0373:Tek	UTSW	4	94,692,578 (GRCm39)	missense	probably damaging	1.00
R0479:Tek	UTSW	4	94,692,549 (GRCm39)	missense	probably benign	0.01
R1178:Tek	UTSW	4	94,692,524 (GRCm39)	missense	probably damaging	1.00
R1289:Tek	UTSW	4	94,693,067 (GRCm39)	missense	probably damaging	1.00
R1331:Tek	UTSW	4	94,627,943 (GRCm39)	splice site	probably benign
R1502:Tek	UTSW	4	94,669,339 (GRCm39)	missense	probably damaging	1.00
R1606:Tek	UTSW	4	94,738,004 (GRCm39)	missense	probably damaging	0.99
R2073:Tek	UTSW	4	94,715,966 (GRCm39)	missense	probably benign	0.01
R2075:Tek	UTSW	4	94,715,966 (GRCm39)	missense	probably benign	0.01
R2230:Tek	UTSW	4	94,699,573 (GRCm39)	missense	probably damaging	1.00
R2851:Tek	UTSW	4	94,708,461 (GRCm39)	missense	probably benign	0.30
R2852:Tek	UTSW	4	94,708,461 (GRCm39)	missense	probably benign	0.30
R3775:Tek	UTSW	4	94,692,549 (GRCm39)	missense	probably benign	0.01
R3845:Tek	UTSW	4	94,693,109 (GRCm39)	missense	probably damaging	1.00
R4114:Tek	UTSW	4	94,737,920 (GRCm39)	missense	probably damaging	0.99
R4115:Tek	UTSW	4	94,737,920 (GRCm39)	missense	probably damaging	0.99
R4273:Tek	UTSW	4	94,718,207 (GRCm39)	missense	probably damaging	1.00
R4425:Tek	UTSW	4	94,751,904 (GRCm39)	missense	probably damaging	1.00
R4488:Tek	UTSW	4	94,737,993 (GRCm39)	missense	possibly damaging	0.72
R4579:Tek	UTSW	4	94,751,903 (GRCm39)	nonsense	probably null
R4623:Tek	UTSW	4	94,751,898 (GRCm39)	missense	probably damaging	1.00
R4651:Tek	UTSW	4	94,669,121 (GRCm39)	missense	probably damaging	1.00
R4723:Tek	UTSW	4	94,687,397 (GRCm39)	missense	possibly damaging	0.71
R5059:Tek	UTSW	4	94,692,551 (GRCm39)	missense	probably benign	0.10
R5652:Tek	UTSW	4	94,743,561 (GRCm39)	missense	probably damaging	1.00
R5793:Tek	UTSW	4	94,708,333 (GRCm39)	missense	probably benign	0.01
R5855:Tek	UTSW	4	94,741,790 (GRCm39)	missense	probably damaging	1.00
R5912:Tek	UTSW	4	94,686,877 (GRCm39)	missense	probably damaging	1.00
R6537:Tek	UTSW	4	94,725,561 (GRCm39)	missense	probably benign	0.19
R6727:Tek	UTSW	4	94,741,732 (GRCm39)	nonsense	probably null
R6835:Tek	UTSW	4	94,741,671 (GRCm39)	missense	possibly damaging	0.94
R6883:Tek	UTSW	4	94,725,426 (GRCm39)	missense	possibly damaging	0.89
R6887:Tek	UTSW	4	94,693,181 (GRCm39)	missense	probably damaging	1.00
R7027:Tek	UTSW	4	94,753,747 (GRCm39)	missense	probably damaging	1.00
R7108:Tek	UTSW	4	94,741,724 (GRCm39)	missense	probably damaging	1.00
R7121:Tek	UTSW	4	94,699,647 (GRCm39)	missense	probably benign	0.19
R7220:Tek	UTSW	4	94,692,541 (GRCm39)	missense	probably damaging	1.00
R7346:Tek	UTSW	4	94,715,533 (GRCm39)	missense	probably benign
R7417:Tek	UTSW	4	94,699,582 (GRCm39)	missense	probably benign
R7465:Tek	UTSW	4	94,716,063 (GRCm39)	critical splice donor site	probably null
R7818:Tek	UTSW	4	94,715,953 (GRCm39)	missense	possibly damaging	0.67
R7917:Tek	UTSW	4	94,708,372 (GRCm39)	missense	possibly damaging	0.89
R7942:Tek	UTSW	4	94,740,111 (GRCm39)	splice site	probably null
R7956:Tek	UTSW	4	94,687,580 (GRCm39)	splice site	probably null
R8098:Tek	UTSW	4	94,715,907 (GRCm39)	missense	probably benign	0.19
R8442:Tek	UTSW	4	94,715,922 (GRCm39)	missense	probably benign	0.04
R8523:Tek	UTSW	4	94,687,403 (GRCm39)	missense	probably benign	0.12
R8676:Tek	UTSW	4	94,738,074 (GRCm39)	missense	probably benign
R8787:Tek	UTSW	4	94,738,037 (GRCm39)	missense	probably damaging	1.00
R9020:Tek	UTSW	4	94,708,339 (GRCm39)	missense	probably benign	0.40
R9172:Tek	UTSW	4	94,692,583 (GRCm39)	missense	probably benign	0.02
R9429:Tek	UTSW	4	94,715,515 (GRCm39)	missense	probably benign
R9564:Tek	UTSW	4	94,762,172 (GRCm39)	missense	probably damaging	1.00
R9602:Tek	UTSW	4	94,715,968 (GRCm39)	missense	possibly damaging	0.91
R9643:Tek	UTSW	4	94,692,523 (GRCm39)	missense	possibly damaging	0.51
R9721:Tek	UTSW	4	94,692,539 (GRCm39)	missense	possibly damaging	0.94
R9722:Tek	UTSW	4	94,692,539 (GRCm39)	missense	possibly damaging	0.94
R9723:Tek	UTSW	4	94,692,539 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCAGACCCTAAGAGATCCAATG -3'
(R):5'- ATGGTCCGTATCCTTATAGCCTG -3'

Sequencing Primer
(F):5'- CCAATGACTGTTTTTAAATGAGGC -3'
(R):5'- ATAGCCTGTCCTCGAACTCGAC -3'

Posted On

2015-10-08