Incidental Mutation 'R7220:Tek'
ID 561720
Institutional Source Beutler Lab
Gene Symbol Tek
Ensembl Gene ENSMUSG00000006386
Gene Name TEK receptor tyrosine kinase
Synonyms Cd202b, Tie2, tie-2, Hyk
MMRRC Submission 045292-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7220 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 94627526-94763213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 94692541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 216 (W216C)
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: W216C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: W216C

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: W165C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: W165C

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: W216C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: W216C

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,837,337 (GRCm39) H325Q probably damaging Het
Aasdh T C 5: 77,049,772 (GRCm39) I75V probably benign Het
Abca14 G A 7: 119,826,667 (GRCm39) D438N possibly damaging Het
Abca8a T A 11: 109,980,793 (GRCm39) I82F probably benign Het
Abca8b G T 11: 109,872,543 (GRCm39) N19K probably damaging Het
Acan A G 7: 78,757,896 (GRCm39) N506S Het
Alox12e C A 11: 70,206,731 (GRCm39) R652L probably benign Het
Atad3a A G 4: 155,838,498 (GRCm39) V173A probably benign Het
Atl3 A G 19: 7,506,433 (GRCm39) K326R probably null Het
Atm G T 9: 53,423,217 (GRCm39) C636* probably null Het
Atp2c2 G A 8: 120,472,300 (GRCm39) M451I probably benign Het
Best1 A T 19: 9,969,479 (GRCm39) M193K probably benign Het
Bmper G T 9: 23,310,651 (GRCm39) G362C probably damaging Het
Brd4 T A 17: 32,444,557 (GRCm39) Y139F unknown Het
Bzw2 A T 12: 36,173,950 (GRCm39) I108N possibly damaging Het
Cbs C A 17: 31,838,191 (GRCm39) V353L probably benign Het
Ceacam20 A G 7: 19,701,678 (GRCm39) T22A probably damaging Het
Ckap2l C T 2: 129,117,436 (GRCm39) E580K probably damaging Het
Ckmt1 T C 2: 121,189,374 (GRCm39) L15P possibly damaging Het
Clec18a G T 8: 111,808,204 (GRCm39) P66H probably benign Het
Cma1 G T 14: 56,180,120 (GRCm39) T95K probably benign Het
Csmd3 A G 15: 48,320,994 (GRCm39) V272A probably damaging Het
Ctnna3 A T 10: 64,670,368 (GRCm39) E632D probably benign Het
Ctsc T C 7: 87,946,361 (GRCm39) L130P probably damaging Het
Frmpd2 A T 14: 33,229,432 (GRCm39) R339S probably damaging Het
Frrs1 C A 3: 116,674,425 (GRCm39) S69* probably null Het
Gcc2 A T 10: 58,116,416 (GRCm39) E1108D probably benign Het
Gkn1 A T 6: 87,326,135 (GRCm39) probably null Het
Gtf2a1 A T 12: 91,534,498 (GRCm39) M252K probably benign Het
H2-Ob T C 17: 34,460,234 (GRCm39) F115S probably damaging Het
Ighv1-53 T C 12: 115,122,135 (GRCm39) N80S probably benign Het
Ighv1-67 T C 12: 115,567,666 (GRCm39) K82R probably benign Het
Ints1 A T 5: 139,747,828 (GRCm39) I1193N possibly damaging Het
Kmt2c A G 5: 25,549,923 (GRCm39) F1353L probably damaging Het
Luc7l C T 17: 26,472,219 (GRCm39) probably benign Het
Man1a A C 10: 53,796,331 (GRCm39) S454A possibly damaging Het
Mars2 C A 1: 55,277,222 (GRCm39) A275D probably damaging Het
Nrde2 A G 12: 100,097,178 (GRCm39) V874A probably benign Het
Ociad1 A G 5: 73,470,809 (GRCm39) T244A probably benign Het
Or10j2 A G 1: 173,097,811 (GRCm39) Y23C possibly damaging Het
Or3a10 A T 11: 73,935,589 (GRCm39) D170E possibly damaging Het
Or8c9 A T 9: 38,241,046 (GRCm39) L51F probably damaging Het
Ovca2 A G 11: 75,069,501 (GRCm39) C41R possibly damaging Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdh15 G A 10: 74,178,441 (GRCm39) S566N possibly damaging Het
Pde3b A G 7: 114,135,297 (GRCm39) I1038M probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Pkhd1 T A 1: 20,593,350 (GRCm39) T1588S possibly damaging Het
Ppig A G 2: 69,580,320 (GRCm39) D618G unknown Het
Pramel17 A G 4: 101,694,565 (GRCm39) F106S probably benign Het
Prorp G A 12: 55,351,200 (GRCm39) V170M possibly damaging Het
Prss51 A T 14: 64,333,444 (GRCm39) K18* probably null Het
Ptpra T A 2: 130,386,417 (GRCm39) D622E probably damaging Het
Ptprs A T 17: 56,725,988 (GRCm39) F1431L probably benign Het
Pxdn A G 12: 30,044,479 (GRCm39) I486V probably benign Het
Rnpc3 G A 3: 113,422,004 (GRCm39) A77V probably benign Het
Rtl10 T A 16: 18,320,026 (GRCm39) C85* probably null Het
Skint10 A G 4: 112,586,170 (GRCm39) S149P probably benign Het
Slc17a8 A C 10: 89,412,275 (GRCm39) V570G probably benign Het
Slc25a42 A T 8: 70,642,148 (GRCm39) V98E probably damaging Het
Smco2 A G 6: 146,760,363 (GRCm39) E73G probably benign Het
Ss18 T C 18: 14,812,477 (GRCm39) Y38C probably damaging Het
Sspo T A 6: 48,453,540 (GRCm39) C2909* probably null Het
Tbccd1 A G 16: 22,652,747 (GRCm39) Y125H probably benign Het
Tdrd9 A G 12: 111,980,888 (GRCm39) T446A probably damaging Het
Tecta G T 9: 42,255,183 (GRCm39) Q1672K probably benign Het
Timm17a C T 1: 135,241,313 (GRCm39) probably null Het
Tlr4 A T 4: 66,758,188 (GRCm39) H327L probably benign Het
Trim33 T C 3: 103,234,109 (GRCm39) I449T possibly damaging Het
Vmn1r57 A G 7: 5,223,559 (GRCm39) N28S probably null Het
Vmn2r117 T A 17: 23,696,177 (GRCm39) H410L probably damaging Het
Vmn2r16 A G 5: 109,508,772 (GRCm39) E500G probably damaging Het
Wif1 A G 10: 120,926,019 (GRCm39) N245S possibly 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
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
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
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'- CTTTTCTGTTGGCAAGGCAG -3'
(R):5'- AAGGTGGTATCATGGACCTAGTG -3'

Sequencing Primer
(F):5'- GCAAGGCAGGATTTGGTATTTC -3'
(R):5'- GTTCTCCCCATAAACCCAG -3'
Posted On 2019-06-26