Incidental Mutation 'R7031:Ly96'
ID 546301
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 045132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 16758680-16779829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16758787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 19 (E19V)
Ref Sequence ENSEMBL: ENSMUSP00000026881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026881] [ENSMUST00000190366]
AlphaFold Q9JHF9
PDB Structure Crystal structure of mouse TLR4 and mouse MD-2 complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/lipid IVa complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/LPS complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026881
AA Change: E19V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026881
Gene: ENSMUSG00000025779
AA Change: E19V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
ML 34 153 7.82e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190366
AA Change: E19V

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140411
Gene: ENSMUSG00000025779
AA Change: E19V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:E1_DerP2_DerF2 66 137 1.8e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,058 (GRCm39) N39S probably benign Het
Abca13 C T 11: 9,571,892 (GRCm39) R4818C probably damaging Het
Acadsb A G 7: 131,045,366 (GRCm39) I433V probably benign Het
Acsl3 T A 1: 78,666,000 (GRCm39) I142N probably benign Het
Api5 G A 2: 94,255,961 (GRCm39) T242M probably benign Het
Brme1 C A 8: 84,893,313 (GRCm39) P160Q possibly damaging Het
Ccdc88c T C 12: 100,911,323 (GRCm39) E37G probably damaging Het
Cfap96 T C 8: 46,421,140 (GRCm39) I128V probably benign Het
Cntnap4 C A 8: 113,584,874 (GRCm39) Q1104K probably benign Het
Cry1 A G 10: 84,984,526 (GRCm39) S183P probably benign Het
Cuzd1 A T 7: 130,910,580 (GRCm39) F572I probably benign Het
Dcbld1 A T 10: 52,166,985 (GRCm39) D104V probably damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dhx15 T C 5: 52,341,931 (GRCm39) D129G probably benign Het
Drd3 T A 16: 43,582,861 (GRCm39) V86E probably damaging Het
Ebf1 A G 11: 44,512,795 (GRCm39) T135A possibly damaging Het
Epha5 T C 5: 84,290,159 (GRCm39) I428V probably benign Het
Epx T A 11: 87,766,349 (GRCm39) probably benign Het
Fam83d T A 2: 158,627,227 (GRCm39) N305K probably benign Het
Gchfr T A 2: 119,000,236 (GRCm39) V39D probably benign Het
Ggnbp2 A G 11: 84,751,467 (GRCm39) L111P probably damaging Het
Gnal G A 18: 67,355,659 (GRCm39) G340D probably damaging Het
Gpat2 A G 2: 127,277,395 (GRCm39) E745G probably damaging Het
Gpbp1l1 C T 4: 116,450,045 (GRCm39) R438C probably damaging Het
Hmgxb4 C T 8: 75,756,200 (GRCm39) Q171* probably null Het
Igkv4-91 G T 6: 68,745,542 (GRCm39) R119S possibly damaging Het
Ing2 T C 8: 48,121,858 (GRCm39) D230G probably benign Het
Itfg2 A G 6: 128,393,017 (GRCm39) V82A probably damaging Het
Klhl22 T C 16: 17,594,890 (GRCm39) S340P probably damaging Het
Lipm A T 19: 34,093,871 (GRCm39) M263L probably benign Het
Mark1 C T 1: 184,644,829 (GRCm39) E376K possibly damaging Het
Mlip T A 9: 77,045,835 (GRCm39) M375L probably benign Het
Mug1 A T 6: 121,815,673 (GRCm39) N26Y probably benign Het
Or2ad1 C T 13: 21,327,170 (GRCm39) S19N probably benign Het
Or55b3 T A 7: 102,127,057 (GRCm39) T7S probably benign Het
Or5m3 C T 2: 85,838,939 (GRCm39) A273V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rb1cc1 T C 1: 6,308,690 (GRCm39) probably null Het
Rgs4 T C 1: 169,571,336 (GRCm39) T178A probably benign Het
Sel1l2 T A 2: 140,182,043 (GRCm39) K31N possibly damaging Het
Serpinf1 T C 11: 75,301,022 (GRCm39) R398G probably damaging Het
Sgo2b C T 8: 64,393,078 (GRCm39) E120K possibly damaging Het
Stard9 T C 2: 120,530,931 (GRCm39) F2396S possibly damaging Het
Trgv6 G A 13: 19,374,610 (GRCm39) E25K probably benign Het
Trpc3 A C 3: 36,675,459 (GRCm39) I893S probably benign Het
Trpc4ap C A 2: 155,534,135 (GRCm39) R31L unknown Het
Vat1l A G 8: 114,998,172 (GRCm39) R239G possibly damaging Het
Vmn1r56 T A 7: 5,199,261 (GRCm39) R119* probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Zfp664 A G 5: 124,963,070 (GRCm39) T155A probably benign 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
R5189:Ly96 UTSW 1 16,771,091 (GRCm39) missense probably damaging 1.00
R5470:Ly96 UTSW 1 16,779,710 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AAGCAGTTGGATGGGAGCTTC -3'
(R):5'- AGCAATTCAGAGGTCCTGGG -3'

Sequencing Primer
(F):5'- TTGGATGGGAGCTTCCAAATCAC -3'
(R):5'- AAGTGGTCGGCATTGCTCC -3'
Posted On 2019-05-13