Incidental Mutation 'R2230:Tek'
ID 239974
Institutional Source Beutler Lab
Gene Symbol Tek
Ensembl Gene ENSMUSG00000006386
Gene Name TEK receptor tyrosine kinase
Synonyms Cd202b, Tie2, tie-2, Hyk
MMRRC Submission 040231-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2230 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 94627526-94763213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94699573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 317 (C317Y)
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: C317Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: C317Y

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: C266Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: C266Y

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: C317Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: C317Y

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131958
Meta Mutation Damage Score 0.9706 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,521,347 (GRCm39) N280K probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,340 (GRCm39) K53R probably benign Het
Atr A G 9: 95,802,818 (GRCm39) R1827G probably damaging Het
Ccdc61 T C 7: 18,625,032 (GRCm39) E502G probably damaging Het
Ccn2 T A 10: 24,472,371 (GRCm39) M138K possibly damaging Het
Cdon T C 9: 35,403,222 (GRCm39) probably null Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dock2 T A 11: 34,244,323 (GRCm39) I1036F probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
F2 T C 2: 91,456,102 (GRCm39) D553G probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Gm10650 A G 3: 127,833,412 (GRCm39) noncoding transcript Het
Gm21850 G T 2: 153,900,248 (GRCm39) V202L probably benign Het
Hdc T A 2: 126,435,938 (GRCm39) E644D possibly damaging Het
Hypk G A 2: 121,287,773 (GRCm39) probably null Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
Mgll G A 6: 88,802,714 (GRCm39) V318M possibly damaging Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Musk A T 4: 58,333,672 (GRCm39) I256F possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Myo5c A G 9: 75,180,888 (GRCm39) D759G probably benign Het
Nkx2-1 G A 12: 56,580,071 (GRCm39) Q290* probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or7g16 A G 9: 18,727,021 (GRCm39) S190P probably damaging Het
Or8c13 T C 9: 38,091,442 (GRCm39) T226A probably benign Het
Pabpc2 G A 18: 39,908,123 (GRCm39) V463I probably benign Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plxnd1 C A 6: 115,941,105 (GRCm39) R1302L probably damaging Het
Pnpla7 T C 2: 24,941,610 (GRCm39) probably benign Het
Ppl G A 16: 4,906,845 (GRCm39) T1150I possibly damaging Het
Prkag2 G T 5: 25,113,362 (GRCm39) A113E probably benign Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sec14l5 A G 16: 4,994,345 (GRCm39) T380A probably damaging Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sspo C A 6: 48,477,437 (GRCm39) Q5123K probably benign Het
Tbc1d21 A C 9: 58,270,363 (GRCm39) N137K probably damaging Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Topbp1 T A 9: 103,223,047 (GRCm39) I1377N probably damaging Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttf2 A G 3: 100,865,260 (GRCm39) V544A probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Ugt2b38 A G 5: 87,569,527 (GRCm39) F267L probably benign Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Vwa8 T C 14: 79,329,843 (GRCm39) probably null Het
Zfp708 A T 13: 67,219,036 (GRCm39) Y229* probably null Het
Zzef1 T A 11: 72,775,242 (GRCm39) M1745K 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
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
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'- GTTCTAGTAGACAGTTACTGAATTCTC -3'
(R):5'- ATGTTAGCATGCCAGGGTAAGAC -3'

Sequencing Primer
(F):5'- TCTCAGTAAATCTCATAAATGGCAC -3'
(R):5'- TTAGCATGCCAGGGTAAGACTTACAC -3'
Posted On 2014-10-15