Incidental Mutation 'IGL03056:Cd160'
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ID409225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd160
Ensembl Gene ENSMUSG00000038304
Gene NameCD160 antigen
SynonymsBy55
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03056
Quality Score
Status
Chromosome3
Chromosomal Location96798763-96829351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96805811 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 46 (T46A)
Ref Sequence ENSEMBL: ENSMUSP00000132363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047702] [ENSMUST00000107074] [ENSMUST00000165991]
Predicted Effect probably benign
Transcript: ENSMUST00000047702
AA Change: T46A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037466
Gene: ENSMUSG00000038304
AA Change: T46A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107074
AA Change: T46A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102689
Gene: ENSMUSG00000038304
AA Change: T46A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165991
AA Change: T46A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132363
Gene: ENSMUSG00000038304
AA Change: T46A

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,670,903 H1118R probably damaging Het
Aff1 G A 5: 103,811,081 V339I probably damaging Het
Ank1 G T 8: 23,141,179 V107F probably damaging Het
Aox3 T C 1: 58,159,021 probably null Het
Col20a1 A T 2: 180,994,889 Y221F probably damaging Het
Ddx18 C T 1: 121,564,535 A148T probably benign Het
Dennd5b A G 6: 149,055,072 M307T probably damaging Het
Fam166a T A 2: 25,221,355 M232K possibly damaging Het
Fam216b G A 14: 78,082,783 H86Y probably benign Het
Fh1 A T 1: 175,606,162 C374S probably damaging Het
Fkbp14 A G 6: 54,579,544 V207A probably benign Het
Gucy1a1 T C 3: 82,113,287 K101R probably benign Het
Kcnk2 G T 1: 189,295,711 Q116K possibly damaging Het
Kdm5b C A 1: 134,587,979 Q114K probably damaging Het
Kif12 C T 4: 63,166,956 R516Q probably null Het
Lca5l C T 16: 96,161,351 C463Y probably benign Het
Lgsn T A 1: 31,203,624 Y262* probably null Het
Lig4 A G 8: 9,972,580 I400T possibly damaging Het
Mink1 T A 11: 70,612,583 probably null Het
Mprip T A 11: 59,771,692 I2243N probably damaging Het
Myo1f A T 17: 33,585,600 Y426F probably damaging Het
Naip2 T A 13: 100,162,287 S414C possibly damaging Het
Nrg1 T C 8: 31,821,423 I363V possibly damaging Het
Olfr1278 A T 2: 111,293,172 R301S possibly damaging Het
Olfr582 A T 7: 103,041,751 I86L possibly damaging Het
Serpinb9d T C 13: 33,202,753 V268A probably damaging Het
Slc15a1 A G 14: 121,491,283 F17L possibly damaging Het
Slc9a3 T A 13: 74,150,819 V119E probably damaging Het
Sspo T A 6: 48,470,538 M2346K probably benign Het
Tcf4 G T 18: 69,651,212 probably benign Het
Trabd2b T C 4: 114,409,338 V183A probably damaging Het
Ust T C 10: 8,207,562 H350R probably benign Het
Zfp952 T A 17: 33,002,766 V35E probably damaging Het
Other mutations in Cd160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Cd160 APN 3 96805570 missense possibly damaging 0.52
IGL02119:Cd160 APN 3 96808823 missense possibly damaging 0.96
IGL02306:Cd160 APN 3 96808823 missense possibly damaging 0.96
IGL02642:Cd160 APN 3 96800611 missense probably benign 0.01
IGL03327:Cd160 APN 3 96805533 splice site probably null
R0690:Cd160 UTSW 3 96805786 missense probably damaging 0.99
R1099:Cd160 UTSW 3 96805840 missense probably damaging 0.99
R5669:Cd160 UTSW 3 96808898 start gained probably benign
R8076:Cd160 UTSW 3 96802346 missense probably benign 0.08
Posted On2016-08-02