Incidental Mutation 'IGL02102:Cd160'
ID 279773
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 # IGL02102
Quality Score
Status
Chromosome 3
Chromosomal Location 96706079-96736667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96712886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 126 (I126T)
Ref Sequence ENSEMBL: ENSMUSP00000132363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047702] [ENSMUST00000107074] [ENSMUST00000165991]
AlphaFold O88875
Predicted Effect probably benign
Transcript: ENSMUST00000047702
AA Change: I126T

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037466
Gene: ENSMUSG00000038304
AA Change: I126T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107074
AA Change: I126T

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102689
Gene: ENSMUSG00000038304
AA Change: I126T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165991
AA Change: I126T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132363
Gene: ENSMUSG00000038304
AA Change: I126T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,754,420 (GRCm39) T1338A probably benign Het
Adcy3 G A 12: 4,184,699 (GRCm39) C125Y probably damaging Het
Aoc1 A T 6: 48,882,896 (GRCm39) K257N probably damaging Het
Apob T C 12: 8,039,407 (GRCm39) V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 (GRCm39) V684D probably benign Het
AW551984 A G 9: 39,500,987 (GRCm39) W763R probably damaging Het
Blm G A 7: 80,119,504 (GRCm39) T1026M probably damaging Het
Cdk14 T C 5: 5,430,083 (GRCm39) K15E probably benign Het
Cnot6l T C 5: 96,239,518 (GRCm39) K261R probably damaging Het
Cyp3a13 T G 5: 137,909,865 (GRCm39) T153P probably benign Het
Ddx24 A G 12: 103,374,743 (GRCm39) probably benign Het
Dido1 G A 2: 180,304,040 (GRCm39) T1288I possibly damaging Het
Dnajc13 A G 9: 104,106,208 (GRCm39) V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dsg1a A G 18: 20,465,089 (GRCm39) N427D probably benign Het
Gabrq T G X: 71,871,151 (GRCm39) probably null Het
Glce A G 9: 61,977,883 (GRCm39) probably benign Het
Gm10477 T C X: 55,570,761 (GRCm39) L45P probably damaging Het
Htt T A 5: 35,048,825 (GRCm39) probably benign Het
Ift140 A G 17: 25,252,104 (GRCm39) E317G probably benign Het
Jak1 A G 4: 101,016,283 (GRCm39) M827T probably benign Het
Kalrn A G 16: 34,040,592 (GRCm39) V932A probably damaging Het
Mdm2 A C 10: 117,528,622 (GRCm39) S227R possibly damaging Het
Or14a259 T C 7: 86,013,074 (GRCm39) Y157C probably benign Het
Or4c111 A G 2: 88,843,470 (GRCm39) probably benign Het
Or5ak25 A G 2: 85,268,611 (GRCm39) V297A probably damaging Het
Or5g27 G A 2: 85,410,017 (GRCm39) V145I probably damaging Het
Or5w22 T C 2: 87,362,805 (GRCm39) F143L probably benign Het
Pdilt T G 7: 119,086,173 (GRCm39) E514A probably benign Het
Pepd A G 7: 34,645,028 (GRCm39) D153G probably damaging Het
Ptgis A T 2: 167,067,367 (GRCm39) V70E probably damaging Het
Rnf112 T C 11: 61,342,841 (GRCm39) K262E probably benign Het
Setd5 G T 6: 113,127,946 (GRCm39) G1300* probably null Het
Snx15 A G 19: 6,172,104 (GRCm39) L113P possibly damaging Het
Sptbn1 T C 11: 30,087,427 (GRCm39) D1004G probably damaging Het
Ston2 A C 12: 91,606,498 (GRCm39) *896G probably null Het
Suco A G 1: 161,655,274 (GRCm39) S1073P probably damaging Het
Susd1 A C 4: 59,369,636 (GRCm39) D344E possibly damaging Het
Trnt1 G T 6: 106,755,073 (GRCm39) probably null Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Vmn1r124 C T 7: 20,994,467 (GRCm39) V26I probably benign Het
Vmn1r52 T A 6: 90,156,189 (GRCm39) N164K possibly damaging Het
Vmn1r56 A T 7: 5,199,335 (GRCm39) M94K possibly damaging Het
Vmn1r80 T C 7: 11,927,618 (GRCm39) F243L probably damaging Het
Zdhhc8 G A 16: 18,043,063 (GRCm39) S379F possibly damaging Het
Other mutations in Cd160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02119:Cd160 APN 3 96,716,139 (GRCm39) missense possibly damaging 0.96
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