Incidental Mutation 'IGL02221:Tyro3'
ID 285134
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 # IGL02221
Quality Score
Status
Chromosome 2
Chromosomal Location 119628221-119648585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119643071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 627 (C627S)
Ref Sequence ENSEMBL: ENSMUSP00000106410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028763] [ENSMUST00000110783]
AlphaFold P55144
Predicted Effect probably benign
Transcript: ENSMUST00000028763
AA Change: C631S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: C631S

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 benign
Transcript: ENSMUST00000110783
AA Change: C627S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: C627S

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: ENSMUST00000130456
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,907 (GRCm39) I24M probably benign Het
Ano5 G A 7: 51,220,071 (GRCm39) D390N probably damaging Het
Atp2c2 A G 8: 120,471,073 (GRCm39) Y407C probably damaging Het
B430306N03Rik T C 17: 48,631,223 (GRCm39) probably benign Het
Cd44 A T 2: 102,676,858 (GRCm39) M269K probably benign Het
Cdin1 T C 2: 115,469,547 (GRCm39) probably null Het
Cpped1 G T 16: 11,646,392 (GRCm39) P144Q probably damaging Het
Epas1 C T 17: 87,135,275 (GRCm39) T636M possibly damaging Het
Hsd17b3 G T 13: 64,236,865 (GRCm39) H26Q probably benign Het
Ighv8-9 A G 12: 115,431,947 (GRCm39) probably benign Het
Itih1 A T 14: 30,651,544 (GRCm39) C883S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lcn3 A T 2: 25,656,172 (GRCm39) M76L probably benign Het
Lin9 A T 1: 180,478,399 (GRCm39) M53L probably benign Het
Mast1 A G 8: 85,645,384 (GRCm39) V687A possibly damaging Het
Mmd2 C T 5: 142,555,212 (GRCm39) probably benign Het
Mroh2b T C 15: 4,953,123 (GRCm39) L619S probably damaging Het
Ngef T C 1: 87,468,418 (GRCm39) T114A probably benign Het
Nlrp12 T C 7: 3,289,597 (GRCm39) D305G possibly damaging Het
Nlrp1a A T 11: 71,013,944 (GRCm39) F435L possibly damaging Het
Nup188 A G 2: 30,220,653 (GRCm39) I909V possibly damaging Het
Osbpl3 A C 6: 50,304,347 (GRCm39) probably benign Het
P2ry2 G T 7: 100,647,321 (GRCm39) P328H possibly damaging Het
Prex2 A T 1: 11,131,569 (GRCm39) N46I probably benign Het
Prss42 T C 9: 110,632,243 (GRCm39) F325L possibly damaging Het
Reep5 A G 18: 34,482,850 (GRCm39) F120L probably damaging Het
Scg3 G T 9: 75,590,939 (GRCm39) F23L probably damaging Het
Scx A G 15: 76,343,295 (GRCm39) D200G probably benign Het
Setd5 C T 6: 113,098,131 (GRCm39) probably benign Het
Tcf4 T A 18: 69,480,438 (GRCm39) S23R probably damaging Het
Ttc4 A G 4: 106,533,793 (GRCm39) probably null Het
Yipf2 T C 9: 21,502,764 (GRCm39) N106S possibly damaging Het
Zfp619 T C 7: 39,186,334 (GRCm39) L788P probably benign Het
Zfp831 G A 2: 174,485,519 (GRCm39) V65I probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign Het
Other mutations in Tyro3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Tyro3 APN 2 119,643,681 (GRCm39) missense probably damaging 1.00
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