Incidental Mutation 'IGL01383:Havcr2'
ID 78944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Havcr2
Ensembl Gene ENSMUSG00000020399
Gene Name hepatitis A virus cellular receptor 2
Synonyms TIM-3, Tim3, Timd3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01383
Quality Score
Status
Chromosome 11
Chromosomal Location 46345762-46372082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46360375 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VIM0
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 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Asb5 T A 8: 55,003,544 (GRCm39) L22H probably damaging Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cep97 T C 16: 55,731,970 (GRCm39) E534G probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Clec7a T C 6: 129,449,603 (GRCm39) T16A probably damaging Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Hvcn1 T C 5: 122,375,766 (GRCm39) V15A probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rab17 T G 1: 90,887,815 (GRCm39) D115A probably damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Havcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Havcr2 APN 11 46,360,373 (GRCm39) missense probably damaging 0.99
IGL01122:Havcr2 APN 11 46,347,254 (GRCm39) missense probably damaging 1.00
IGL02303:Havcr2 APN 11 46,370,108 (GRCm39) splice site probably benign
IGL02665:Havcr2 APN 11 46,370,221 (GRCm39) missense probably benign 0.03
R1688:Havcr2 UTSW 11 46,370,191 (GRCm39) missense probably damaging 1.00
R1782:Havcr2 UTSW 11 46,345,844 (GRCm39) missense unknown
R1945:Havcr2 UTSW 11 46,345,877 (GRCm39) missense unknown
R4429:Havcr2 UTSW 11 46,347,387 (GRCm39) missense probably damaging 1.00
R5846:Havcr2 UTSW 11 46,360,343 (GRCm39) missense probably benign 0.09
R5893:Havcr2 UTSW 11 46,347,143 (GRCm39) missense probably damaging 1.00
R6744:Havcr2 UTSW 11 46,345,887 (GRCm39) critical splice donor site probably null
R6915:Havcr2 UTSW 11 46,366,738 (GRCm39) missense probably benign 0.01
R7262:Havcr2 UTSW 11 46,360,388 (GRCm39) missense probably benign 0.14
R7560:Havcr2 UTSW 11 46,349,889 (GRCm39) missense probably damaging 0.99
R7739:Havcr2 UTSW 11 46,347,384 (GRCm39) missense probably damaging 1.00
R8032:Havcr2 UTSW 11 46,370,118 (GRCm39) missense probably damaging 1.00
R8151:Havcr2 UTSW 11 46,366,722 (GRCm39) missense possibly damaging 0.77
R9124:Havcr2 UTSW 11 46,360,388 (GRCm39) missense probably benign 0.14
R9420:Havcr2 UTSW 11 46,347,350 (GRCm39) missense probably damaging 1.00
R9560:Havcr2 UTSW 11 46,347,164 (GRCm39) missense probably benign 0.14
Posted On 2013-11-05