Incidental Mutation 'R8032:Havcr2'
ID 618038
Institutional Source Beutler Lab
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 # R8032 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 46345762-46372082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46370118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 231 (I231F)
Ref Sequence ENSEMBL: ENSMUSP00000020668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020668] [ENSMUST00000109229]
AlphaFold Q8VIM0
PDB Structure Structure of Tim-3 in complex with phosphatidylserine [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020668
AA Change: I231F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020668
Gene: ENSMUSG00000020399
AA Change: I231F

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: I182F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104852
Gene: ENSMUSG00000020399
AA Change: I182F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T A 4: 154,751,955 (GRCm39) E60D probably benign Het
Adamts12 T C 15: 11,259,189 (GRCm39) probably null Het
Ak9 T A 10: 41,300,616 (GRCm39) C1609S unknown Het
Aox1 A T 1: 58,389,442 (GRCm39) Y1147F probably benign Het
Atf7ip T C 6: 136,542,110 (GRCm39) F615L probably benign Het
BC005624 A G 2: 30,865,901 (GRCm39) probably null Het
BC024063 T A 10: 81,943,738 (GRCm39) M33K probably benign Het
Bmpr2 T A 1: 59,906,502 (GRCm39) S532T probably benign Het
Cast G A 13: 74,883,360 (GRCm39) Q292* probably null Het
Ccdc7a G T 8: 129,551,864 (GRCm39) H1249N unknown Het
Cd177 C T 7: 24,455,594 (GRCm39) W309* probably null Het
Col15a1 T C 4: 47,288,108 (GRCm39) I4T unknown Het
Cyp2c39 A G 19: 39,499,426 (GRCm39) I38V probably benign Het
Dmpk A G 7: 18,821,978 (GRCm39) D312G possibly damaging Het
Dnah1 T C 14: 30,993,505 (GRCm39) D2892G probably damaging Het
Dnah10 G A 5: 124,823,676 (GRCm39) D566N probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Exd2 T A 12: 80,536,427 (GRCm39) D352E probably benign Het
Fgf8 A T 19: 45,725,676 (GRCm39) L187Q probably damaging Het
Frrs1 A G 3: 116,672,009 (GRCm39) I36V probably benign Het
Gga2 A T 7: 121,620,210 (GRCm39) probably null Het
Gigyf2 C G 1: 87,334,735 (GRCm39) H249D unknown Het
Gli2 A T 1: 118,763,900 (GRCm39) M1417K probably damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Gm49380 A T 9: 44,023,000 (GRCm39) I416N probably damaging Het
Gpr137 T C 19: 6,919,480 (GRCm39) T16A unknown Het
Grid1 T A 14: 35,045,316 (GRCm39) D386E probably benign Het
Grm3 A G 5: 9,562,272 (GRCm39) V526A probably benign Het
Icam5 C A 9: 20,944,514 (GRCm39) R72S probably benign Het
Ighv9-2 T A 12: 114,072,764 (GRCm39) I70L possibly damaging Het
Inpp5e C T 2: 26,286,865 (GRCm39) S119N Het
Kash5 CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC 7: 44,837,608 (GRCm39) probably benign Het
Kash5 TCAGGC TCAGGCACAGGC 7: 44,837,630 (GRCm39) probably benign Het
Kxd1 T A 8: 70,966,791 (GRCm39) D110V possibly damaging Het
Mbd4 A G 6: 115,821,594 (GRCm39) S474P probably damaging Het
Meaf6 C A 4: 124,996,795 (GRCm39) H168Q unknown Het
Nek2 T C 1: 191,558,457 (GRCm39) L254S probably damaging Het
Nhej1 T C 1: 75,007,959 (GRCm39) D104G probably benign Het
Nmnat3 A G 9: 98,292,271 (GRCm39) E172G probably benign Het
Npm3 A T 19: 45,736,682 (GRCm39) D152E probably benign Het
Nsd1 A T 13: 55,458,196 (GRCm39) K2103M probably damaging Het
Ntrk3 C T 7: 78,005,807 (GRCm39) R518H probably damaging Het
Nup210 T A 6: 91,051,331 (GRCm39) T351S probably benign Het
Or10h5 T A 17: 33,434,924 (GRCm39) R131S possibly damaging Het
Or9g19 A G 2: 85,600,210 (GRCm39) I22V probably benign Het
Otof T A 5: 30,619,142 (GRCm39) M1L probably benign Het
Pacs2 T A 12: 113,025,278 (GRCm39) Y477N probably damaging Het
Panx3 A G 9: 37,572,966 (GRCm39) Y195H probably damaging Het
Pcsk5 T C 19: 17,692,151 (GRCm39) R178G probably damaging Het
Pde7a A G 3: 19,314,429 (GRCm39) S56P possibly damaging Het
Prcp T G 7: 92,577,906 (GRCm39) C392G probably damaging Het
Prkdc A G 16: 15,597,315 (GRCm39) K2825R probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rbl1 A T 2: 157,029,918 (GRCm39) Y468* probably null Het
Rbmxl2 A G 7: 106,809,429 (GRCm39) Y238C probably damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Slc25a18 G A 6: 120,769,452 (GRCm39) G237D probably damaging Het
Slc9a3 G A 13: 74,305,763 (GRCm39) G260D probably damaging Het
Sorcs1 A T 19: 50,463,846 (GRCm39) S201R probably benign Het
Strip1 A C 3: 107,525,394 (GRCm39) D547E probably damaging Het
Thsd7a C T 6: 12,555,287 (GRCm39) C199Y Het
Top1mt A G 15: 75,540,572 (GRCm39) V233A probably damaging Het
Tpp2 C G 1: 44,014,628 (GRCm39) P656A possibly damaging Het
Ttc1 A T 11: 43,628,806 (GRCm39) L193Q probably damaging Het
Ttll4 T A 1: 74,735,632 (GRCm39) D1013E possibly damaging Het
Unc5a T C 13: 55,144,299 (GRCm39) V208A possibly damaging Het
Vmn1r185 C A 7: 26,310,558 (GRCm39) V316F probably benign Het
Vmn2r112 T A 17: 22,822,375 (GRCm39) V351E probably benign Het
Wdfy4 T A 14: 32,751,043 (GRCm39) K2391* probably null Het
Zfhx3 T C 8: 109,677,854 (GRCm39) V2968A possibly damaging Het
Zfp551 G A 7: 12,152,487 (GRCm39) A82V possibly damaging 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
IGL01383:Havcr2 APN 11 46,360,375 (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
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
Predicted Primers PCR Primer
(F):5'- AGTTGGGACCTATGGCATTC -3'
(R):5'- TTAAAAGTGGCAGTCCAGAGGC -3'

Sequencing Primer
(F):5'- GGGACCTATGGCATTCATACCTAAG -3'
(R):5'- TCCAGAGGCGGTCAGGATG -3'
Posted On 2020-01-23