Incidental Mutation 'R1502:Tek'
ID 169343
Institutional Source Beutler Lab
Gene Symbol Tek
Ensembl Gene ENSMUSG00000006386
Gene Name TEK receptor tyrosine kinase
Synonyms Cd202b, Tie2, tie-2, Hyk
MMRRC Submission 039552-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1502 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 94627526-94763213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94669339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 113 (I113M)
Ref Sequence ENSEMBL: ENSMUSP00000073595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071168] [ENSMUST00000073939] [ENSMUST00000102798]
AlphaFold Q02858
Predicted Effect probably damaging
Transcript: ENSMUST00000071168
AA Change: I113M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: I113M

DomainStartEndE-ValueType
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: I113M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: I113M

DomainStartEndE-ValueType
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: I113M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: I113M

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T G 11: 109,865,471 (GRCm39) T329P probably damaging Het
Adamts4 C A 1: 171,086,559 (GRCm39) P784T probably damaging Het
Adamts6 T C 13: 104,630,145 (GRCm39) L1096P probably damaging Het
Ap1b1 A G 11: 4,990,290 (GRCm39) S849G probably benign Het
Arap2 T C 5: 62,761,747 (GRCm39) S1660G probably benign Het
Atp10b A C 11: 43,121,174 (GRCm39) T946P probably damaging Het
Brpf1 A G 6: 113,299,381 (GRCm39) D1103G probably damaging Het
Bub1 A G 2: 127,669,339 (GRCm39) Y102H probably damaging Het
Ccdc182 A G 11: 88,185,193 (GRCm39) E91G probably benign Het
Cd200r4 C T 16: 44,653,803 (GRCm39) T154M probably damaging Het
Cdh20 A G 1: 104,881,755 (GRCm39) T407A probably benign Het
Col6a2 T C 10: 76,450,512 (GRCm39) I140V probably benign Het
Csn3 C A 5: 88,077,983 (GRCm39) T163K probably damaging Het
Dars2 A T 1: 160,874,375 (GRCm39) L438* probably null Het
Dbr1 T C 9: 99,464,440 (GRCm39) L289P probably damaging Het
Ddx46 A G 13: 55,811,122 (GRCm39) R573G possibly damaging Het
Defb10 T C 8: 22,348,972 (GRCm39) I10T possibly damaging Het
Dis3l T C 9: 64,233,069 (GRCm39) E136G possibly damaging Het
Dnajb13 T C 7: 100,156,668 (GRCm39) Q136R probably benign Het
Dse A T 10: 34,029,214 (GRCm39) S625R probably damaging Het
Dvl3 A G 16: 20,342,209 (GRCm39) D94G probably damaging Het
Dynlt2a2 A G 17: 15,187,876 (GRCm39) F133L probably benign Het
E130311K13Rik A C 3: 63,822,968 (GRCm39) Y225* probably null Het
Etnppl A G 3: 130,422,438 (GRCm39) I222V probably benign Het
Evc2 T C 5: 37,550,440 (GRCm39) L818P probably benign Het
Fbn1 A T 2: 125,205,626 (GRCm39) C1083* probably null Het
Flnc G A 6: 29,438,693 (GRCm39) V196I probably benign Het
Fscn3 A G 6: 28,435,622 (GRCm39) D415G probably benign Het
Gm4861 A C 3: 137,256,381 (GRCm39) V75G probably damaging Het
Gpld1 A T 13: 25,155,399 (GRCm39) T345S probably benign Het
Grik4 T C 9: 42,432,169 (GRCm39) S943G probably damaging Het
Grik4 C T 9: 42,502,743 (GRCm39) R460Q probably benign Het
Ifi207 A C 1: 173,556,872 (GRCm39) L629R possibly damaging Het
Ift52 G A 2: 162,871,782 (GRCm39) probably null Het
Insl3 A G 8: 72,142,876 (GRCm39) D79G probably damaging Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Lag3 T C 6: 124,886,206 (GRCm39) Y249C probably damaging Het
Lipe T C 7: 25,097,572 (GRCm39) N124D possibly damaging Het
Lnpep A G 17: 17,791,906 (GRCm39) Y412H probably damaging Het
Lrtm2 A G 6: 119,294,235 (GRCm39) Y299H probably benign Het
Lypd4 T C 7: 24,566,253 (GRCm39) T24A probably benign Het
Magi1 T A 6: 93,671,151 (GRCm39) I805F probably damaging Het
Mfap3 T C 11: 57,418,975 (GRCm39) L45P probably benign Het
Nbea G A 3: 55,912,310 (GRCm39) P1159L probably benign Het
Ndst4 A T 3: 125,231,407 (GRCm39) probably benign Het
Notch1 A T 2: 26,374,335 (GRCm39) N229K possibly damaging Het
Nova1 A G 12: 46,767,615 (GRCm39) I102T unknown Het
Npepps T C 11: 97,109,401 (GRCm39) E725G possibly damaging Het
Or11g27 A T 14: 50,771,234 (GRCm39) M122L possibly damaging Het
Or13a1 T C 6: 116,471,242 (GRCm39) I224T probably damaging Het
Or5l14 T C 2: 87,792,379 (GRCm39) N286D probably damaging Het
Or6c69c T C 10: 129,910,741 (GRCm39) I154T probably damaging Het
Pappa2 A T 1: 158,784,858 (GRCm39) W51R probably damaging Het
Pde8a T C 7: 80,942,007 (GRCm39) S149P probably damaging Het
Pgap6 A G 17: 26,339,290 (GRCm39) T535A possibly damaging Het
Phkb T A 8: 86,785,968 (GRCm39) L1052Q possibly damaging Het
Pou5f2 T A 13: 78,173,370 (GRCm39) L104Q probably benign Het
Pramel32 T A 4: 88,546,269 (GRCm39) I358F probably benign Het
Psme2b A T 11: 48,836,576 (GRCm39) W124R probably damaging Het
Ptk2b G A 14: 66,400,529 (GRCm39) S762L possibly damaging Het
Ptprs T C 17: 56,744,992 (GRCm39) N248S probably benign Het
Rgs22 G A 15: 36,080,997 (GRCm39) T705I probably damaging Het
Rnf123 T C 9: 107,945,709 (GRCm39) probably null Het
Sel1l2 A T 2: 140,231,515 (GRCm39) I13N probably damaging Het
Slc39a4 T C 15: 76,500,793 (GRCm39) T57A probably benign Het
Smpdl3a T G 10: 57,685,187 (GRCm39) V319G probably damaging Het
Syt9 T C 7: 107,035,694 (GRCm39) L237P probably damaging Het
Tbc1d16 G T 11: 119,044,830 (GRCm39) A536E probably damaging Het
Tcf20 T C 15: 82,739,777 (GRCm39) D558G probably damaging Het
Tdpoz2 A T 3: 93,559,453 (GRCm39) M173K probably benign Het
Tmem50a A T 4: 134,636,980 (GRCm39) D50E probably benign Het
Trappc11 A T 8: 47,983,862 (GRCm39) V10E possibly damaging Het
Vmn1r172 C T 7: 23,359,681 (GRCm39) R189* probably null Het
Vmn2r63 A T 7: 42,578,015 (GRCm39) D174E possibly damaging Het
Zc3h10 A T 10: 128,380,151 (GRCm39) M402K probably damaging Het
Zfp109 T C 7: 23,927,588 (GRCm39) H615R probably damaging Het
Zfp982 A C 4: 147,597,126 (GRCm39) H161P probably benign Het
Zhx1 A G 15: 57,917,992 (GRCm39) F85L probably damaging Het
Other mutations in Tek
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4652: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'- TGATGGCTGCCATGTATCATGCTC -3'
(R):5'- TGAGGAAGACAGCGCCTTCAGTTTC -3'

Sequencing Primer
(F):5'- GTGTCTGATGCCGAAACATCC -3'
(R):5'- CTACACTCAGGCAGTCTGTG -3'
Posted On 2014-04-13