Incidental Mutation 'IGL02306:Cd160'
ID 287602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd160
Ensembl Gene ENSMUSG00000038304
Gene Name CD160 antigen
Synonyms By55
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02306
Quality Score
Status
Chromosome 3
Chromosomal Location 96706079-96736667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96716139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 17 (I17N)
Ref Sequence ENSEMBL: ENSMUSP00000102689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047702] [ENSMUST00000107074] [ENSMUST00000165991]
AlphaFold O88875
Predicted Effect possibly damaging
Transcript: ENSMUST00000047702
AA Change: I17N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037466
Gene: ENSMUSG00000038304
AA Change: I17N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107074
AA Change: I17N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102689
Gene: ENSMUSG00000038304
AA Change: I17N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165991
AA Change: I17N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132363
Gene: ENSMUSG00000038304
AA Change: I17N

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IG 32 136 1.5e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased interferon-gamma secretion by NK cells and increased tumor growth/size following inoculation with NK-dependent B16 tumor cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,952,044 (GRCm39) Y680C probably damaging Het
Abcb11 C T 2: 69,095,801 (GRCm39) W846* probably null Het
Adam34 G A 8: 44,103,522 (GRCm39) R708C probably benign Het
Adam6a T A 12: 113,509,343 (GRCm39) L572Q possibly damaging Het
Aldoart2 A G 12: 55,612,489 (GRCm39) Y138C probably damaging Het
Amigo1 T A 3: 108,095,302 (GRCm39) F267Y probably benign Het
Car7 A G 8: 105,275,630 (GRCm39) Y137C probably damaging Het
Ccar2 A T 14: 70,379,471 (GRCm39) M509K probably benign Het
Cmya5 C T 13: 93,234,527 (GRCm39) G187D probably damaging Het
Crot A T 5: 9,018,701 (GRCm39) V555E possibly damaging Het
Cstf1 C T 2: 172,214,891 (GRCm39) T4I probably benign Het
Cyp2a12 A G 7: 26,732,008 (GRCm39) K250E probably damaging Het
Deaf1 T C 7: 140,904,094 (GRCm39) probably null Het
Dse C T 10: 34,036,130 (GRCm39) E249K probably damaging Het
E4f1 G T 17: 24,665,903 (GRCm39) R88S probably damaging Het
Fam83a A C 15: 57,858,704 (GRCm39) D248A probably damaging Het
Fhip2b T C 14: 70,826,437 (GRCm39) D217G probably benign Het
Hadhb T A 5: 30,371,747 (GRCm39) L66Q probably null Het
Kalrn T C 16: 34,130,897 (GRCm39) E440G probably damaging Het
Kif3b A G 2: 153,162,572 (GRCm39) Y527C probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Krtap29-1 A T 11: 99,869,092 (GRCm39) V263E probably damaging Het
Mms19 A G 19: 41,954,703 (GRCm39) L72P probably damaging Het
Mylpf T A 7: 126,812,330 (GRCm39) probably benign Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Nedd4l T G 18: 65,306,025 (GRCm39) S292R possibly damaging Het
Nlrc3 A C 16: 3,782,688 (GRCm39) D240E probably damaging Het
Obscn A T 11: 58,890,497 (GRCm39) I7345N unknown Het
Or4c102 A T 2: 88,422,950 (GRCm39) K267N probably benign Het
Ostn A T 16: 27,165,691 (GRCm39) S127C probably damaging Het
Patl1 A G 19: 11,920,250 (GRCm39) K735E possibly damaging Het
Pde12 A G 14: 26,389,533 (GRCm39) L392P possibly damaging Het
Plxdc2 A G 2: 16,665,585 (GRCm39) I213V probably benign Het
Plxna4 T A 6: 32,183,059 (GRCm39) Y948F probably benign Het
Prlhr A T 19: 60,456,353 (GRCm39) V71E probably damaging Het
Prlr C T 15: 10,328,760 (GRCm39) P412S probably benign Het
Prmt9 A G 8: 78,287,447 (GRCm39) K196R probably benign Het
Rundc3a T A 11: 102,291,764 (GRCm39) L387Q probably damaging Het
Ryr3 T C 2: 112,664,459 (GRCm39) I1611V probably damaging Het
Ryr3 A G 2: 112,677,744 (GRCm39) probably null Het
Scart1 T C 7: 139,803,269 (GRCm39) C278R probably damaging Het
Sfxn2 T A 19: 46,578,987 (GRCm39) M240K probably damaging Het
Skor2 T C 18: 76,950,374 (GRCm39) S901P probably benign Het
Smad4 T C 18: 73,795,940 (GRCm39) probably null Het
Snrnp40 T G 4: 130,258,893 (GRCm39) C100W probably benign Het
Spink5 T A 18: 44,097,511 (GRCm39) D19E probably damaging Het
Sult1d1 T A 5: 87,703,914 (GRCm39) probably benign Het
Wdr59 G A 8: 112,219,365 (GRCm39) L231F probably damaging Het
Other mutations in Cd160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Cd160 APN 3 96,712,886 (GRCm39) missense possibly damaging 0.52
IGL02119:Cd160 APN 3 96,716,139 (GRCm39) missense possibly damaging 0.96
IGL02642:Cd160 APN 3 96,707,927 (GRCm39) missense probably benign 0.01
IGL03056:Cd160 APN 3 96,713,127 (GRCm39) missense probably benign 0.06
IGL03327:Cd160 APN 3 96,712,849 (GRCm39) splice site probably null
R0690:Cd160 UTSW 3 96,713,102 (GRCm39) missense probably damaging 0.99
R1099:Cd160 UTSW 3 96,713,156 (GRCm39) missense probably damaging 0.99
R5669:Cd160 UTSW 3 96,716,214 (GRCm39) start gained probably benign
R8076:Cd160 UTSW 3 96,709,662 (GRCm39) missense probably benign 0.08
R8971:Cd160 UTSW 3 96,713,102 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16