Incidental Mutation 'IGL02119:Cd160'
ID 280520
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 # IGL02119
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,158,344 (GRCm39) probably null Het
Acsbg2 T C 17: 57,175,459 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,598,911 (GRCm39) V495A probably benign Het
Astn1 T C 1: 158,338,724 (GRCm39) probably benign Het
Bora A G 14: 99,290,974 (GRCm39) D94G probably damaging Het
Bpifb9b G T 2: 154,155,544 (GRCm39) V348L possibly damaging Het
Cyp2d11 A C 15: 82,274,265 (GRCm39) I372S probably damaging Het
Dennd2c T A 3: 103,044,559 (GRCm39) V380D probably damaging Het
Fat4 C T 3: 39,037,088 (GRCm39) A3580V probably benign Het
Filip1 A G 9: 79,725,548 (GRCm39) S1024P probably benign Het
Flnc G A 6: 29,447,511 (GRCm39) E1105K probably damaging Het
Gbp4 T A 5: 105,268,908 (GRCm39) E415V probably benign Het
Gdap1l1 T A 2: 163,295,588 (GRCm39) F224Y probably damaging Het
Gm11146 A T 16: 77,385,498 (GRCm39) probably null Het
Gsn G T 2: 35,192,507 (GRCm39) R485L probably damaging Het
Havcr1 A G 11: 46,666,320 (GRCm39) Y261C probably damaging Het
Maneal A T 4: 124,752,960 (GRCm39) I229N probably benign Het
Med24 A T 11: 98,619,661 (GRCm39) M27K probably benign Het
Nipsnap2 T A 5: 129,825,056 (GRCm39) probably benign Het
Noa1 T A 5: 77,455,426 (GRCm39) Q430L probably benign Het
Or1l4 C A 2: 37,091,281 (GRCm39) S9R possibly damaging Het
Or5d47 T A 2: 87,804,754 (GRCm39) N85I probably benign Het
Or7g12 T C 9: 18,899,908 (GRCm39) V208A probably benign Het
Or8h9 T C 2: 86,789,527 (GRCm39) I92V probably benign Het
Pde3a T A 6: 141,405,529 (GRCm39) S460R probably damaging Het
Pdzd8 T C 19: 59,288,922 (GRCm39) Q826R possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Poldip2 T A 11: 78,408,734 (GRCm39) F200I probably damaging Het
Prodh2 T C 7: 30,205,929 (GRCm39) V208A probably damaging Het
Ranbp10 T C 8: 106,553,635 (GRCm39) D89G probably damaging Het
Rbm33 T A 5: 28,544,015 (GRCm39) S90R probably damaging Het
Slc44a4 A C 17: 35,147,637 (GRCm39) D441A probably damaging Het
Slc4a10 A T 2: 62,059,014 (GRCm39) I174F probably damaging Het
Smim17 T C 7: 6,430,160 (GRCm39) probably benign Het
Tln1 T C 4: 43,546,760 (GRCm39) E872G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Top2b T C 14: 16,406,733 (GRCm38) L625S probably damaging Het
Vmn2r59 A G 7: 41,695,593 (GRCm39) V273A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Whrn T G 4: 63,353,724 (GRCm39) K348Q probably damaging Het
Zc3h14 T C 12: 98,730,154 (GRCm39) V399A probably benign Het
Other mutations in Cd160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Cd160 APN 3 96,712,886 (GRCm39) missense possibly damaging 0.52
IGL02306: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