Incidental Mutation 'IGL02303:Havcr2'
ID287490
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 #IGL02303
Quality Score
Status
Chromosome11
Chromosomal Location46454935-46481255 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 46479281 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020668] [ENSMUST00000109229]
Predicted Effect probably benign
Transcript: ENSMUST00000020668
SMART Domains Protein: ENSMUSP00000020668
Gene: ENSMUSG00000020399

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 benign
Transcript: ENSMUST00000109229
SMART Domains Protein: ENSMUSP00000104852
Gene: ENSMUSG00000020399

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Ipo5 T A 14: 120,917,383 S40T probably benign Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Mbnl2 T C 14: 120,404,647 M341T probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr23 T C 11: 73,940,450 F68S possibly damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tef T C 15: 81,821,295 V173A probably benign Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Tpgs1 T C 10: 79,675,488 Y155H probably damaging Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging 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
IGL01383:Havcr2 APN 11 46469548 missense probably damaging 1.00
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 On2015-04-16