Incidental Mutation 'R7108:Tek'
ID 551306
Institutional Source Beutler Lab
Gene Symbol Tek
Ensembl Gene ENSMUSG00000006386
Gene Name TEK receptor tyrosine kinase
Synonyms Cd202b, Hyk, tie-2, Tie2
MMRRC Submission 045200-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7108 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 94739289-94874976 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94853487 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 827 (D827V)
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: D826V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: D826V

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: D776V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: D776V

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: D827V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: D827V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,880,924 (GRCm38) S411P probably damaging Het
4930503L19Rik A T 18: 70,468,476 (GRCm38) Y112N probably benign Het
Abcd2 A T 15: 91,191,274 (GRCm38) V112E probably benign Het
Acadm A T 3: 153,925,800 (GRCm38) Y353* probably null Het
Adra2c A G 5: 35,279,998 (GRCm38) D38G probably benign Het
Ankrd10 C T 8: 11,612,624 (GRCm38) G370R probably damaging Het
Arfgef2 T A 2: 166,873,608 (GRCm38) N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,102,501 (GRCm38) T172A probably damaging Het
BC003331 T C 1: 150,382,290 (GRCm38) Y198C probably benign Het
Bloc1s1 T A 10: 128,922,723 (GRCm38) K22M possibly damaging Het
Brpf3 A G 17: 28,817,125 (GRCm38) T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,468,995 (GRCm38) probably null Het
Casc1 G A 6: 145,185,865 (GRCm38) Q351* probably null Het
Ccdc186 T C 19: 56,798,760 (GRCm38) D592G probably damaging Het
Cfap161 A T 7: 83,793,310 (GRCm38) D98E possibly damaging Het
Cfi G A 3: 129,875,016 (GRCm38) V564M probably damaging Het
Cilp2 T A 8: 69,881,129 (GRCm38) Q1073L probably damaging Het
Cox6b1 A G 7: 30,623,504 (GRCm38) C40R possibly damaging Het
Cyp3a59 A T 5: 146,096,333 (GRCm38) M172L probably benign Het
Cyth1 T C 11: 118,182,913 (GRCm38) D198G probably damaging Het
Daam2 T C 17: 49,460,674 (GRCm38) D963G probably damaging Het
Ddi2 A T 4: 141,705,937 (GRCm38) D209E probably benign Het
Dnah12 G A 14: 26,778,912 (GRCm38) probably null Het
Dpagt1 G T 9: 44,327,021 (GRCm38) probably benign Het
Drc3 T A 11: 60,370,554 (GRCm38) F177Y probably benign Het
Dsg2 T C 18: 20,601,863 (GRCm38) V966A probably damaging Het
E430018J23Rik A G 7: 127,391,523 (GRCm38) S431P probably benign Het
E4f1 A G 17: 24,444,578 (GRCm38) V633A probably damaging Het
Eif2ak2 T A 17: 78,858,536 (GRCm38) R411* probably null Het
Frem2 T C 3: 53,653,513 (GRCm38) E1191G probably damaging Het
Fry T C 5: 150,395,786 (GRCm38) V972A probably damaging Het
Fry T A 5: 150,491,090 (GRCm38) C467S Het
Fscn1 T C 5: 142,960,515 (GRCm38) Y23H probably damaging Het
Gm16506 T A 14: 43,724,302 (GRCm38) I163F Het
Gm21103 T C 14: 6,303,774 (GRCm38) Y92C probably damaging Het
Golgb1 A G 16: 36,913,721 (GRCm38) H1151R probably benign Het
Gprc5c T C 11: 114,864,282 (GRCm38) Y262H probably damaging Het
Hc G T 2: 35,039,694 (GRCm38) N245K probably benign Het
Hps6 T A 19: 46,005,490 (GRCm38) L622Q probably damaging Het
Hsd17b1 T C 11: 101,079,209 (GRCm38) Y156H probably damaging Het
Ireb2 T A 9: 54,906,641 (GRCm38) F799L probably damaging Het
Irf1 A G 11: 53,774,412 (GRCm38) D205G probably damaging Het
Kif12 A T 4: 63,171,205 (GRCm38) F103L probably benign Het
Krt12 C T 11: 99,416,052 (GRCm38) V475M unknown Het
Lca5 T A 9: 83,423,169 (GRCm38) T195S probably benign Het
Lrrc17 T C 5: 21,575,339 (GRCm38) V437A possibly damaging Het
Malt1 G T 18: 65,464,051 (GRCm38) D468Y probably damaging Het
Man2b2 C T 5: 36,815,485 (GRCm38) A562T probably benign Het
Mrc1 C T 2: 14,304,146 (GRCm38) Q794* probably null Het
Muc16 T A 9: 18,655,233 (GRCm38) I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,634,450 (GRCm38) probably null Het
Mycbp2 A T 14: 103,122,603 (GRCm38) F4518Y probably damaging Het
Myo5a T A 9: 75,129,992 (GRCm38) I159N probably damaging Het
Nat1 T C 8: 67,491,020 (GRCm38) V19A probably benign Het
Ndst4 A G 3: 125,561,471 (GRCm38) T343A probably damaging Het
Nlrp9b A T 7: 20,045,930 (GRCm38) L839F probably damaging Het
Nxnl1 A G 8: 71,566,554 (GRCm38) I9T probably benign Het
Olfr1351 C A 10: 79,017,649 (GRCm38) S109* probably null Het
Olfr331 T A 11: 58,502,554 (GRCm38) M7L probably benign Het
Olfr364-ps1 C T 2: 37,146,260 (GRCm38) T16I probably benign Het
Olfr548-ps1 A T 7: 102,541,992 (GRCm38) I19F probably damaging Het
Olfr693 G A 7: 106,678,048 (GRCm38) A146V probably benign Het
Pou5f2 T C 13: 78,025,265 (GRCm38) S109P possibly damaging Het
Prkcz G A 4: 155,286,793 (GRCm38) Q321* probably null Het
Prr18 G T 17: 8,341,531 (GRCm38) R173L probably damaging Het
Ralgapb A T 2: 158,494,662 (GRCm38) I1407F probably damaging Het
Ralgapb T C 2: 158,492,460 (GRCm38) Y1364H probably damaging Het
Sacs T A 14: 61,211,009 (GRCm38) Y3501* probably null Het
Sall3 G A 18: 80,973,754 (GRCm38) P320S probably benign Het
Scn8a A T 15: 101,039,778 (GRCm38) H1676L probably benign Het
Shmt1 T C 11: 60,798,644 (GRCm38) D178G probably damaging Het
Slmap T C 14: 26,422,521 (GRCm38) K737R probably benign Het
Ssh2 G A 11: 77,454,794 (GRCm38) V1202I probably benign Het
Stard7 A G 2: 127,295,494 (GRCm38) D288G possibly damaging Het
Tfap2e A G 4: 126,720,563 (GRCm38) L276P probably damaging Het
Tns3 T C 11: 8,437,251 (GRCm38) N1312S probably benign Het
Tubd1 T A 11: 86,557,805 (GRCm38) S315T probably damaging Het
Ube2f T A 1: 91,265,219 (GRCm38) C50* probably null Het
Vmn2r109 T C 17: 20,564,744 (GRCm38) I5V probably benign Het
Vmn2r39 T C 7: 9,023,668 (GRCm38) T445A probably damaging Het
Other mutations in Tek
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Tek APN 4 94,827,301 (GRCm38) missense probably benign 0.03
IGL00805:Tek APN 4 94,798,719 (GRCm38) missense probably damaging 1.00
IGL00806:Tek APN 4 94,798,719 (GRCm38) missense probably damaging 1.00
IGL00807:Tek APN 4 94,798,719 (GRCm38) missense probably damaging 1.00
IGL00870:Tek APN 4 94,873,081 (GRCm38) nonsense probably null
IGL01348:Tek APN 4 94,859,658 (GRCm38) missense probably damaging 1.00
IGL01398:Tek APN 4 94,849,777 (GRCm38) missense probably damaging 1.00
IGL01683:Tek APN 4 94,858,911 (GRCm38) missense probably damaging 1.00
IGL01827:Tek APN 4 94,739,645 (GRCm38) missense probably benign 0.24
IGL02063:Tek APN 4 94,739,645 (GRCm38) missense probably benign 0.24
IGL02218:Tek APN 4 94,855,337 (GRCm38) missense probably damaging 1.00
IGL02502:Tek APN 4 94,853,581 (GRCm38) critical splice donor site probably null
IGL02852:Tek APN 4 94,855,324 (GRCm38) missense probably damaging 1.00
IGL02995:Tek APN 4 94,739,640 (GRCm38) utr 5 prime probably benign
IGL03182:Tek APN 4 94,851,765 (GRCm38) missense probably damaging 1.00
IGL03247:Tek APN 4 94,865,443 (GRCm38) missense possibly damaging 0.85
IGL03014:Tek UTSW 4 94,827,263 (GRCm38) missense probably benign 0.05
R0022:Tek UTSW 4 94,837,272 (GRCm38) missense probably damaging 0.98
R0373:Tek UTSW 4 94,804,341 (GRCm38) missense probably damaging 1.00
R0479:Tek UTSW 4 94,804,312 (GRCm38) missense probably benign 0.01
R1178:Tek UTSW 4 94,804,287 (GRCm38) missense probably damaging 1.00
R1289:Tek UTSW 4 94,804,830 (GRCm38) missense probably damaging 1.00
R1331:Tek UTSW 4 94,739,706 (GRCm38) splice site probably benign
R1502:Tek UTSW 4 94,781,102 (GRCm38) missense probably damaging 1.00
R1606:Tek UTSW 4 94,849,767 (GRCm38) missense probably damaging 0.99
R2073:Tek UTSW 4 94,827,729 (GRCm38) missense probably benign 0.01
R2075:Tek UTSW 4 94,827,729 (GRCm38) missense probably benign 0.01
R2230:Tek UTSW 4 94,811,336 (GRCm38) missense probably damaging 1.00
R2851:Tek UTSW 4 94,820,224 (GRCm38) missense probably benign 0.30
R2852:Tek UTSW 4 94,820,224 (GRCm38) missense probably benign 0.30
R3775:Tek UTSW 4 94,804,312 (GRCm38) missense probably benign 0.01
R3845:Tek UTSW 4 94,804,872 (GRCm38) missense probably damaging 1.00
R4114:Tek UTSW 4 94,849,683 (GRCm38) missense probably damaging 0.99
R4115:Tek UTSW 4 94,849,683 (GRCm38) missense probably damaging 0.99
R4273:Tek UTSW 4 94,829,970 (GRCm38) missense probably damaging 1.00
R4425:Tek UTSW 4 94,863,667 (GRCm38) missense probably damaging 1.00
R4488:Tek UTSW 4 94,849,756 (GRCm38) missense possibly damaging 0.72
R4579:Tek UTSW 4 94,863,666 (GRCm38) nonsense probably null
R4623:Tek UTSW 4 94,863,661 (GRCm38) missense probably damaging 1.00
R4651:Tek UTSW 4 94,780,884 (GRCm38) missense probably damaging 1.00
R4652:Tek UTSW 4 94,780,884 (GRCm38) missense probably damaging 1.00
R4723:Tek UTSW 4 94,799,160 (GRCm38) missense possibly damaging 0.71
R5059:Tek UTSW 4 94,804,314 (GRCm38) missense probably benign 0.10
R5652:Tek UTSW 4 94,855,324 (GRCm38) missense probably damaging 1.00
R5793:Tek UTSW 4 94,820,096 (GRCm38) missense probably benign 0.01
R5855:Tek UTSW 4 94,853,553 (GRCm38) missense probably damaging 1.00
R5912:Tek UTSW 4 94,798,640 (GRCm38) missense probably damaging 1.00
R6537:Tek UTSW 4 94,837,324 (GRCm38) missense probably benign 0.19
R6727:Tek UTSW 4 94,853,495 (GRCm38) nonsense probably null
R6835:Tek UTSW 4 94,853,434 (GRCm38) missense possibly damaging 0.94
R6883:Tek UTSW 4 94,837,189 (GRCm38) missense possibly damaging 0.89
R6887:Tek UTSW 4 94,804,944 (GRCm38) missense probably damaging 1.00
R7027:Tek UTSW 4 94,865,510 (GRCm38) missense probably damaging 1.00
R7121:Tek UTSW 4 94,811,410 (GRCm38) missense probably benign 0.19
R7220:Tek UTSW 4 94,804,304 (GRCm38) missense probably damaging 1.00
R7346:Tek UTSW 4 94,827,296 (GRCm38) missense probably benign
R7417:Tek UTSW 4 94,811,345 (GRCm38) missense probably benign
R7465:Tek UTSW 4 94,827,826 (GRCm38) critical splice donor site probably null
R7818:Tek UTSW 4 94,827,716 (GRCm38) missense possibly damaging 0.67
R7917:Tek UTSW 4 94,820,135 (GRCm38) missense possibly damaging 0.89
R7942:Tek UTSW 4 94,851,874 (GRCm38) splice site probably null
R7956:Tek UTSW 4 94,799,343 (GRCm38) splice site probably null
R8098:Tek UTSW 4 94,827,670 (GRCm38) missense probably benign 0.19
R8442:Tek UTSW 4 94,827,685 (GRCm38) missense probably benign 0.04
R8523:Tek UTSW 4 94,799,166 (GRCm38) missense probably benign 0.12
R8676:Tek UTSW 4 94,849,837 (GRCm38) missense probably benign
R8787:Tek UTSW 4 94,849,800 (GRCm38) missense probably damaging 1.00
R9020:Tek UTSW 4 94,820,102 (GRCm38) missense probably benign 0.40
R9172:Tek UTSW 4 94,804,346 (GRCm38) missense probably benign 0.02
R9429:Tek UTSW 4 94,827,278 (GRCm38) missense probably benign
R9564:Tek UTSW 4 94,873,935 (GRCm38) missense probably damaging 1.00
R9602:Tek UTSW 4 94,827,731 (GRCm38) missense possibly damaging 0.91
R9643:Tek UTSW 4 94,804,286 (GRCm38) missense possibly damaging 0.51
R9721:Tek UTSW 4 94,804,302 (GRCm38) missense possibly damaging 0.94
R9722:Tek UTSW 4 94,804,302 (GRCm38) missense possibly damaging 0.94
R9723:Tek UTSW 4 94,804,302 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CCTGTGTAGATACAAAGCAGATGATAG -3'
(R):5'- TCAGAGCAACTCCTGGTTCG -3'

Sequencing Primer
(F):5'- GTATGCACCTTAGGATGACAAATGTC -3'
(R):5'- TCGAAGAATATATGGCCACAAAGG -3'
Posted On 2019-05-15