Incidental Mutation 'IGL02104:Tyro3'
ID 279882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyro3
Ensembl Gene ENSMUSG00000027298
Gene Name TYRO3 protein tyrosine kinase 3
Synonyms Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02104
Quality Score
Status
Chromosome 2
Chromosomal Location 119628221-119648585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119643681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 718 (R718H)
Ref Sequence ENSEMBL: ENSMUSP00000028763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028763] [ENSMUST00000110783]
AlphaFold P55144
PDB Structure Inhibitor bound structure of the kinase domain of the murine receptor tyrosine kinase TYRO3 (Sky) [X-RAY DIFFRACTION]
Inhibitor bound structure of the kinase domain of the murine receptor tyrosine kinase TYRO3 (Sky) [X-RAY DIFFRACTION]
Inhibitor bound structure of the kinase domain of the murine receptor tyrosine kinase TYRO3 (Sky) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028763
AA Change: R718H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: R718H

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
IGc2 45 114 1.29e-15 SMART
IG 135 212 1.3e-2 SMART
FN3 215 297 1.5e-5 SMART
FN3 313 393 1.9e0 SMART
transmembrane domain 419 441 N/A INTRINSIC
TyrKc 508 776 1.18e-125 SMART
low complexity region 817 832 N/A INTRINSIC
low complexity region 865 875 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110783
AA Change: R714H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: R714H

DomainStartEndE-ValueType
IGc2 41 110 1.29e-15 SMART
IG 131 208 1.3e-2 SMART
FN3 211 293 1.5e-5 SMART
FN3 309 389 1.9e0 SMART
transmembrane domain 415 437 N/A INTRINSIC
TyrKc 504 772 1.18e-125 SMART
low complexity region 813 828 N/A INTRINSIC
low complexity region 861 871 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147761
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Gars1 A G 6: 55,054,682 (GRCm39) D663G probably damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or55b3 C A 7: 102,126,544 (GRCm39) V178F probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Pom121l2 C A 13: 22,166,445 (GRCm39) H239N possibly damaging Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rnf212 A G 5: 108,895,306 (GRCm39) I41T possibly damaging Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Scd4 G T 19: 44,333,186 (GRCm39) V304F possibly damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Tmc1 C T 19: 20,809,818 (GRCm39) D255N probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L probably benign Het
Other mutations in Tyro3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:Tyro3 APN 2 119,643,071 (GRCm39) missense probably benign 0.00
IGL02389:Tyro3 APN 2 119,635,345 (GRCm39) splice site probably benign
IGL02442:Tyro3 APN 2 119,639,349 (GRCm39) missense probably benign 0.16
PIT4382001:Tyro3 UTSW 2 119,632,845 (GRCm39) missense probably damaging 1.00
R0078:Tyro3 UTSW 2 119,647,487 (GRCm39) missense probably damaging 1.00
R0087:Tyro3 UTSW 2 119,632,182 (GRCm39) missense probably benign 0.38
R0503:Tyro3 UTSW 2 119,633,711 (GRCm39) splice site probably benign
R0551:Tyro3 UTSW 2 119,647,385 (GRCm39) missense probably damaging 1.00
R1858:Tyro3 UTSW 2 119,632,176 (GRCm39) missense possibly damaging 0.95
R1902:Tyro3 UTSW 2 119,632,176 (GRCm39) missense possibly damaging 0.73
R1980:Tyro3 UTSW 2 119,639,298 (GRCm39) missense probably benign
R2294:Tyro3 UTSW 2 119,636,126 (GRCm39) missense probably damaging 0.99
R3877:Tyro3 UTSW 2 119,643,774 (GRCm39) missense probably damaging 0.98
R4651:Tyro3 UTSW 2 119,647,349 (GRCm39) missense probably benign 0.01
R4652:Tyro3 UTSW 2 119,647,349 (GRCm39) missense probably benign 0.01
R4698:Tyro3 UTSW 2 119,633,751 (GRCm39) missense probably damaging 1.00
R4757:Tyro3 UTSW 2 119,641,419 (GRCm39) missense probably damaging 1.00
R4894:Tyro3 UTSW 2 119,632,779 (GRCm39) missense probably damaging 0.96
R5193:Tyro3 UTSW 2 119,640,998 (GRCm39) missense probably damaging 1.00
R5366:Tyro3 UTSW 2 119,635,312 (GRCm39) missense probably damaging 1.00
R5693:Tyro3 UTSW 2 119,641,349 (GRCm39) missense probably damaging 1.00
R6017:Tyro3 UTSW 2 119,647,147 (GRCm39) missense probably damaging 1.00
R6110:Tyro3 UTSW 2 119,643,304 (GRCm39) missense probably damaging 1.00
R6160:Tyro3 UTSW 2 119,633,751 (GRCm39) missense probably damaging 0.98
R6290:Tyro3 UTSW 2 119,647,321 (GRCm39) missense probably benign
R6293:Tyro3 UTSW 2 119,638,481 (GRCm39) missense possibly damaging 0.89
R6366:Tyro3 UTSW 2 119,647,156 (GRCm39) missense probably damaging 0.96
R6712:Tyro3 UTSW 2 119,635,335 (GRCm39) missense probably null 0.44
R7645:Tyro3 UTSW 2 119,647,387 (GRCm39) missense probably damaging 1.00
R9378:Tyro3 UTSW 2 119,642,648 (GRCm39) missense probably damaging 1.00
R9541:Tyro3 UTSW 2 119,642,589 (GRCm39) missense possibly damaging 0.47
Z1088:Tyro3 UTSW 2 119,639,948 (GRCm39) missense probably benign 0.31
Z1177:Tyro3 UTSW 2 119,640,472 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16