Incidental Mutation 'R1099:Cd160'
ID 97847
Institutional Source Beutler Lab
Gene Symbol Cd160
Ensembl Gene ENSMUSG00000038304
Gene Name CD160 antigen
Synonyms By55
MMRRC Submission 039173-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1099 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96706079-96736667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96713156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 36 (A36V)
Ref Sequence ENSEMBL: ENSMUSP00000102689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047702] [ENSMUST00000107074] [ENSMUST00000165991]
AlphaFold O88875
Predicted Effect probably damaging
Transcript: ENSMUST00000047702
AA Change: A36V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037466
Gene: ENSMUSG00000038304
AA Change: A36V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107074
AA Change: A36V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102689
Gene: ENSMUSG00000038304
AA Change: A36V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 32 136 3.85e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165991
AA Change: A36V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132363
Gene: ENSMUSG00000038304
AA Change: A36V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IG 32 136 1.5e-7 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca7 G T 10: 79,849,577 (GRCm39) E1921* probably null Het
Acnat2 G A 4: 49,380,484 (GRCm39) T298I probably benign Het
Agbl4 T C 4: 110,812,860 (GRCm39) probably null Het
Angpt2 T A 8: 18,749,149 (GRCm39) T323S probably damaging Het
Ano2 A G 6: 125,784,810 (GRCm39) K299R probably damaging Het
Armc2 G T 10: 41,793,183 (GRCm39) Q814K probably benign Het
Atp9b A C 18: 80,901,841 (GRCm39) I263S probably damaging Het
Cadps2 A G 6: 23,599,478 (GRCm39) I276T probably damaging Het
Casp12 T A 9: 5,352,204 (GRCm39) H135Q probably benign Het
Ccdc180 A G 4: 45,914,225 (GRCm39) I621V probably benign Het
Ctcfl A T 2: 172,954,153 (GRCm39) C315S probably damaging Het
Egflam A G 15: 7,281,903 (GRCm39) V411A probably benign Het
Ezh1 T C 11: 101,084,634 (GRCm39) probably null Het
Fam171a1 T A 2: 3,226,354 (GRCm39) S371T probably benign Het
Hspbap1 T G 16: 35,645,314 (GRCm39) F333C probably damaging Het
Ky G C 9: 102,414,923 (GRCm39) W278C probably damaging Het
Lrig3 T A 10: 125,842,883 (GRCm39) probably null Het
Map3k6 A T 4: 132,974,439 (GRCm39) S580C probably damaging Het
Mark2 T C 19: 7,254,790 (GRCm39) T219A probably benign Het
Mbd5 A G 2: 49,148,156 (GRCm39) I789V probably benign Het
Myo18a T A 11: 77,709,727 (GRCm39) probably null Het
Nos1 A G 5: 118,061,460 (GRCm39) T929A probably damaging Het
Or2a20 T C 6: 43,194,558 (GRCm39) F237S probably damaging Het
Or2z9 T A 8: 72,854,503 (GRCm39) S300T probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Palmd T C 3: 116,716,874 (GRCm39) N541S possibly damaging Het
Pdzd2 A G 15: 12,373,173 (GRCm39) S2321P probably damaging Het
Prdm8 T G 5: 98,331,361 (GRCm39) I71S probably damaging Het
Prkg1 A C 19: 30,549,012 (GRCm39) S654R probably benign Het
Psmf1 A T 2: 151,560,590 (GRCm39) H260Q probably damaging Het
Rp1 A T 1: 4,422,513 (GRCm39) I179N possibly damaging Het
Rreb1 A G 13: 38,132,867 (GRCm39) K1681E probably benign Het
Rtn1 A T 12: 72,351,241 (GRCm39) probably null Het
Scaf4 T A 16: 90,059,986 (GRCm39) I37F unknown Het
Sema4c A G 1: 36,591,191 (GRCm39) S383P probably damaging Het
Shc4 G T 2: 125,564,764 (GRCm39) D178E probably benign Het
Slc2a5 A G 4: 150,226,636 (GRCm39) N366S probably benign Het
Slc6a3 A G 13: 73,715,760 (GRCm39) N465S probably benign Het
Tbc1d9b C A 11: 50,037,135 (GRCm39) D261E probably benign Het
Tdrd3 A T 14: 87,724,675 (GRCm39) T359S probably damaging Het
Thap3 T C 4: 152,067,788 (GRCm39) M97V probably benign Het
Thg1l T A 11: 45,844,988 (GRCm39) Q88L possibly damaging Het
Tjp3 T C 10: 81,109,657 (GRCm39) T849A probably benign Het
Tomm70a G T 16: 56,963,180 (GRCm39) D400Y probably damaging Het
Trak2 T C 1: 58,961,000 (GRCm39) I177V probably benign Het
Trim66 T C 7: 109,074,661 (GRCm39) I533M probably benign Het
Ush2a T A 1: 188,380,545 (GRCm39) Y2285N probably benign Het
Ush2a C T 1: 188,596,836 (GRCm39) P3859S 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTCACCTGTGACTAGAACGGAGAG -3'
(R):5'- AGAAGAGGCAGGCAGTGTCCTTAC -3'

Sequencing Primer
(F):5'- GTTCTATGGTGAACACCAACTGAG -3'
(R):5'- CAGTGTCCTTACTGTCATAGAAGC -3'
Posted On 2014-01-05