Incidental Mutation 'IGL01383:Havcr2'
ID78944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Havcr2
Ensembl Gene ENSMUSG00000020399
Gene Namehepatitis A virus cellular receptor 2
SynonymsTim3, Timd3, TIM-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01383
Quality Score
Status
Chromosome11
Chromosomal Location46454935-46481255 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46469548 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Ref Sequence ENSEMBL: ENSMUSP00000104852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020668] [ENSMUST00000109229]
Predicted Effect probably damaging
Transcript: ENSMUST00000020668
AA Change: S201P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020668
Gene: ENSMUSG00000020399
AA Change: S201P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 23 131 9.8e-6 SMART
transmembrane domain 193 215 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109229
AA Change: S152P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104852
Gene: ENSMUSG00000020399
AA Change: S152P

DomainStartEndE-ValueType
Pfam:V-set 12 80 8.6e-9 PFAM
transmembrane domain 144 166 N/A INTRINSIC
low complexity region 210 228 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 probably null Het
4931409K22Rik A T 5: 24,548,294 N453K probably benign Het
Abca9 A C 11: 110,113,293 probably benign Het
Aox2 T A 1: 58,294,305 M227K probably benign Het
Asb5 T A 8: 54,550,509 L22H probably damaging Het
Atrx T C X: 105,802,075 D2309G probably damaging Het
Cand1 T A 10: 119,208,167 T1074S probably damaging Het
Ccdc114 T C 7: 45,939,700 S179P probably damaging Het
Cep97 T C 16: 55,911,607 E534G probably damaging Het
Cftr C A 6: 18,226,041 N329K probably benign Het
Clec7a T C 6: 129,472,640 T16A probably damaging Het
Col1a1 G A 11: 94,945,525 R674H probably damaging Het
Csf2rb2 T C 15: 78,297,043 S50G possibly damaging Het
Eepd1 A G 9: 25,482,482 D14G probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm13103 T G 4: 143,846,532 probably benign Het
Grin1 C A 2: 25,296,967 R694L possibly damaging Het
Gtf3c1 A G 7: 125,699,500 I151T probably damaging Het
Hvcn1 T C 5: 122,237,703 V15A probably damaging Het
Map3k10 C T 7: 27,657,999 V785M probably benign Het
Mis18bp1 T C 12: 65,148,989 N667S probably benign Het
Mup3 A C 4: 62,085,959 Y106D probably damaging Het
Mypn G T 10: 63,135,797 N821K probably damaging Het
Olfr1386 T A 11: 49,471,053 W301R probably benign Het
Olfr152 A G 2: 87,782,873 D111G possibly damaging Het
Olfr209 A T 16: 59,361,953 N88K probably benign Het
Olfr547 A G 7: 102,534,933 Y62C probably benign Het
Pcdhb10 A T 18: 37,413,275 H468L probably benign Het
Prp2 C A 6: 132,599,878 P43T unknown Het
Psg26 A G 7: 18,480,254 V161A possibly damaging Het
Rab17 T G 1: 90,960,093 D115A probably damaging Het
Rrp1b T C 17: 32,058,578 F611L probably damaging Het
Skor1 T A 9: 63,146,556 T44S probably benign Het
Spaca5 T C X: 21,068,486 probably benign Het
Tatdn3 G A 1: 191,055,381 probably benign Het
Tbk1 T C 10: 121,576,279 D118G probably damaging Het
Tnfsf13b T C 8: 10,031,528 F230S probably damaging Het
Tnrc6c T C 11: 117,714,257 S73P probably benign Het
Vmn2r109 A G 17: 20,541,121 V658A possibly damaging Het
Vmn2r116 C T 17: 23,401,601 L770F probably damaging Het
Wwp2 T A 8: 107,533,291 probably null Het
Other mutations in Havcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Havcr2 APN 11 46469546 missense probably damaging 0.99
IGL01122:Havcr2 APN 11 46456427 missense probably damaging 1.00
IGL02303:Havcr2 APN 11 46479281 splice site probably benign
IGL02665:Havcr2 APN 11 46479394 missense probably benign 0.03
R1688:Havcr2 UTSW 11 46479364 missense probably damaging 1.00
R1782:Havcr2 UTSW 11 46455017 missense unknown
R1945:Havcr2 UTSW 11 46455050 missense unknown
R4429:Havcr2 UTSW 11 46456560 missense probably damaging 1.00
R5846:Havcr2 UTSW 11 46469516 missense probably benign 0.09
R5893:Havcr2 UTSW 11 46456316 missense probably damaging 1.00
R6744:Havcr2 UTSW 11 46455060 critical splice donor site probably null
R6915:Havcr2 UTSW 11 46475911 missense probably benign 0.01
R7262:Havcr2 UTSW 11 46469561 missense probably benign 0.14
R7560:Havcr2 UTSW 11 46459062 missense probably damaging 0.99
R7739:Havcr2 UTSW 11 46456557 missense probably damaging 1.00
R8032:Havcr2 UTSW 11 46479291 missense probably damaging 1.00
Posted On2013-11-05