Incidental Mutation 'R5189:Ly96'
ID 405040
Institutional Source Beutler Lab
Gene Symbol Ly96
Ensembl Gene ENSMUSG00000025779
Gene Name lymphocyte antigen 96
Synonyms myeloid differentiation factor-2, ESOP-1, MD2, MD-2
MMRRC Submission 042767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5189 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 16758680-16779829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16771091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 74 (E74G)
Ref Sequence ENSEMBL: ENSMUSP00000140411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026881] [ENSMUST00000190366]
AlphaFold Q9JHF9
Predicted Effect probably damaging
Transcript: ENSMUST00000026881
AA Change: E92G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026881
Gene: ENSMUSG00000025779
AA Change: E92G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
ML 34 153 7.82e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190366
AA Change: E74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140411
Gene: ENSMUSG00000025779
AA Change: E74G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:E1_DerP2_DerF2 66 137 1.8e-11 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired responsiveness to LPS, are resistant to LPS-induced lethal toxicity but show increased susceptibility to Salmonella typhimurium infection. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik C T 12: 71,240,123 (GRCm39) T1311I possibly damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930505A04Rik T C 11: 30,376,169 (GRCm39) T233A probably damaging Het
Ankar T C 1: 72,697,573 (GRCm39) I859V probably benign Het
Cacnb2 G T 2: 14,990,849 (GRCm39) A644S possibly damaging Het
Gatb T C 3: 85,544,238 (GRCm39) V402A probably benign Het
Gpcpd1 T C 2: 132,395,892 (GRCm39) K153R probably damaging Het
Hip1 A G 5: 135,463,147 (GRCm39) L60S probably damaging Het
Hsf4 GCAGCACCGGGTCA G 8: 105,998,060 (GRCm39) probably null Het
Hydin A T 8: 111,139,843 (GRCm39) probably null Het
Igsf3 A T 3: 101,338,843 (GRCm39) T386S possibly damaging Het
Il12rb1 A G 8: 71,263,702 (GRCm39) T88A possibly damaging Het
Kank1 T C 19: 25,401,545 (GRCm39) S1051P probably damaging Het
Kap A G 6: 133,828,879 (GRCm39) probably null Het
Map7d1 G T 4: 126,136,097 (GRCm39) probably null Het
Megf6 G T 4: 154,336,980 (GRCm39) R253L probably benign Het
Mex3b A G 7: 82,518,459 (GRCm39) D258G probably damaging Het
Mpzl3 T C 9: 44,973,408 (GRCm39) I49T possibly damaging Het
Myh15 C A 16: 48,921,870 (GRCm39) T472N probably benign Het
Nacad A G 11: 6,551,611 (GRCm39) S527P probably damaging Het
Nkx2-3 T G 19: 43,601,147 (GRCm39) S70A probably benign Het
Nkx2-6 A T 14: 69,409,342 (GRCm39) Q31L probably benign Het
Or6ae1 A G 7: 139,742,632 (GRCm39) V77A probably damaging Het
Pcdha6 A T 18: 37,101,844 (GRCm39) N346Y probably damaging Het
Pkd2 G A 5: 104,607,785 (GRCm39) D95N probably benign Het
Pkhd1l1 A G 15: 44,410,544 (GRCm39) T2684A probably damaging Het
Plin2 A G 4: 86,575,383 (GRCm39) Y389H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc41a2 T C 10: 83,149,275 (GRCm39) probably null Het
Smg6 A G 11: 74,932,822 (GRCm39) T1038A probably damaging Het
Suds3 T C 5: 117,238,664 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,424,213 (GRCm39) H626R probably benign Het
Tmem260 T A 14: 48,746,573 (GRCm39) H616Q probably benign Het
Trip10 A T 17: 57,568,288 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Vmn1r84 A T 7: 12,096,385 (GRCm39) S103T probably benign Het
Vps13a G T 19: 16,662,679 (GRCm39) P1602Q probably damaging Het
Other mutations in Ly96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Ly96 APN 1 16,776,452 (GRCm39) splice site probably null
IGL01588:Ly96 APN 1 16,779,678 (GRCm39) missense probably benign 0.11
pique UTSW 1 16,761,940 (GRCm39) nonsense probably null
H8562:Ly96 UTSW 1 16,761,918 (GRCm39) missense probably damaging 1.00
R1186:Ly96 UTSW 1 16,771,118 (GRCm39) missense possibly damaging 0.90
R1751:Ly96 UTSW 1 16,776,399 (GRCm39) missense probably benign 0.00
R1767:Ly96 UTSW 1 16,776,399 (GRCm39) missense probably benign 0.00
R4645:Ly96 UTSW 1 16,761,940 (GRCm39) nonsense probably null
R5470:Ly96 UTSW 1 16,779,710 (GRCm39) missense probably benign 0.16
R7031:Ly96 UTSW 1 16,758,787 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- GACAACCATGATGATCAAATGAAGC -3'
(R):5'- GGGTTTCTTTGTCCTAACAGCC -3'

Sequencing Primer
(F):5'- CATGATGATCAAATGAAGCATCAAAG -3'
(R):5'- GGTTAAGAGCAGTGACTACTCTCC -3'
Posted On 2016-07-22