Incidental Mutation 'R1688:Havcr2'
ID189507
Institutional Source Beutler Lab
Gene Symbol Havcr2
Ensembl Gene ENSMUSG00000020399
Gene Namehepatitis A virus cellular receptor 2
SynonymsTim3, Timd3, TIM-3
MMRRC Submission 039721-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1688 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location46454935-46481255 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46479364 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 206 (I206T)
Ref Sequence ENSEMBL: ENSMUSP00000104852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020668] [ENSMUST00000109229]
Predicted Effect probably damaging
Transcript: ENSMUST00000020668
AA Change: I255T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020668
Gene: ENSMUSG00000020399
AA Change: I255T

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: I206T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104852
Gene: ENSMUSG00000020399
AA Change: I206T

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
Meta Mutation Damage Score 0.7422 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,228,609 V2113A probably benign Het
4930486L24Rik T C 13: 60,854,881 T20A probably benign Het
Acaca T G 11: 84,238,896 V359G probably damaging Het
Adgb G A 10: 10,350,317 R1359* probably null Het
Aggf1 T C 13: 95,364,767 E369G probably damaging Het
Alkbh8 T A 9: 3,382,765 D418E probably damaging Het
Alox8 T C 11: 69,189,906 D203G probably benign Het
Ank A G 15: 27,557,234 D168G probably damaging Het
Ap5m1 A G 14: 49,080,834 probably null Het
Arhgap45 A G 10: 80,029,095 Y964C probably damaging Het
Arhgef2 A G 3: 88,640,300 D571G probably benign Het
Bdh2 A T 3: 135,301,638 Y223F possibly damaging Het
Bin1 T C 18: 32,419,935 probably benign Het
Bin1 G A 18: 32,424,972 probably benign Het
Cacna1g T A 11: 94,425,953 M1514L possibly damaging Het
Cd109 T A 9: 78,705,091 F1253L probably benign Het
Cfap57 T A 4: 118,569,646 E1065V probably null Het
Chmp2b T C 16: 65,551,036 N14S probably benign Het
Crybg1 A T 10: 43,973,798 F1660L probably damaging Het
Cyp2c37 T G 19: 39,994,443 probably null Het
Daam1 A T 12: 71,947,046 I408F unknown Het
Dsc3 T A 18: 19,966,227 D744V probably damaging Het
Eprs T C 1: 185,384,896 F379L probably damaging Het
Ewsr1 G T 11: 5,072,870 D417E unknown Het
Eya4 A T 10: 23,123,861 N424K probably damaging Het
Gm9312 A C 12: 24,251,919 noncoding transcript Het
Igfbp2 T C 1: 72,824,966 probably null Het
Ikzf2 T C 1: 69,542,280 K196R possibly damaging Het
Il12rb1 G A 8: 70,819,402 G587R probably damaging Het
Immt A T 6: 71,857,011 H208L probably damaging Het
Kcnq2 C T 2: 181,087,033 V540I probably damaging Het
Klk1b8 T A 7: 43,945,805 probably benign Het
Mc2r T A 18: 68,408,019 I68F possibly damaging Het
Neil3 T C 8: 53,601,034 E320G probably damaging Het
Nell2 T C 15: 95,431,613 T276A probably damaging Het
Nphp3 T C 9: 104,003,124 L115P probably damaging Het
Nras T C 3: 103,060,373 L95P probably benign Het
Ogt G A X: 101,655,690 V190I probably damaging Het
Olfr1102 A G 2: 87,002,386 Y139C probably benign Het
Olfr745 A T 14: 50,643,248 K322N probably benign Het
P2ry6 T A 7: 100,938,384 H256L probably damaging Het
Pcbp4 T C 9: 106,461,334 S153P probably damaging Het
Pclo T C 5: 14,788,493 probably null Het
Per2 A G 1: 91,423,829 L985P probably damaging Het
Phip T C 9: 82,871,657 N1678S probably benign Het
Pkd1l3 A G 8: 109,623,818 S432G probably benign Het
Plin4 T A 17: 56,109,363 D47V possibly damaging Het
Ppp2cb A G 8: 33,615,452 I163M probably benign Het
Ptpdc1 T C 13: 48,586,224 E577G probably benign Het
Ptprd G T 4: 75,982,684 P1063T probably damaging Het
Ptpru T C 4: 131,787,345 D866G probably benign Het
Rdx T C 9: 52,060,911 probably benign Het
Rgsl1 C T 1: 153,804,676 R760H probably damaging Het
Rhno1 A G 6: 128,357,934 V142A probably benign Het
Sema5a C T 15: 32,669,424 T698I probably benign Het
Serpina3a A T 12: 104,118,643 D99V probably benign Het
Slc22a3 A T 17: 12,433,807 M350K probably damaging Het
Spata31d1b T A 13: 59,715,460 S141T possibly damaging Het
Tada2a T C 11: 84,084,759 probably null Het
Tmem8 C T 17: 26,118,908 A422V possibly damaging Het
Tspan10 A G 11: 120,442,782 M2V probably damaging Het
Ttll11 T C 2: 35,795,379 T566A probably damaging Het
Vwa8 A G 14: 79,201,103 Q1872R possibly damaging Het
Zfp605 T A 5: 110,129,041 I675N possibly damaging Het
Zkscan8 A T 13: 21,520,154 N538K possibly 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
IGL02303:Havcr2 APN 11 46479281 splice site probably benign
IGL02665:Havcr2 APN 11 46479394 missense probably benign 0.03
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
Predicted Primers PCR Primer
(F):5'- TGAAGGGCCATGAATGTCAACTAGC -3'
(R):5'- AGTGGGAGATCCGATCCCTGAAAC -3'

Sequencing Primer
(F):5'- GAATGTCAACTAGCTGCTGTC -3'
(R):5'- TGTGGTCAGAACCTCCAATG -3'
Posted On2014-05-14