|Institutional Source||Beutler Lab|
|Gene Name||hepatitis A virus cellular receptor 2|
|Synonyms||Tim3, Timd3, TIM-3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5893 (G1)|
|Chromosomal Location||46454935-46481255 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46456316 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 40 (Y40C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020668 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020668] [ENSMUST00000109229]|
|Predicted Effect||probably damaging
AA Change: Y40C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y40C
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal thymic development and show no evidence of autoimmunity or lymphoproliferation. Mice homozygous for a different targeted allele exhibit improved survival following influenza infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Havcr2||
(F):5'- CTCTCAAATCAGAGAATCATTGGCAC -3'
(R):5'- CAGTAGGTCCCATGGTCATC -3'
(F):5'- GCACAGCCAATCCTCCTC -3'
(R):5'- TGGTCATCCAGAGTCACATTC -3'