Incidental Mutation 'R0311:Cd48'
ID 25156
Institutional Source Beutler Lab
Gene Symbol Cd48
Ensembl Gene ENSMUSG00000015355
Gene Name CD48 antigen
Synonyms Bcm-1, BCM1, BLAST-1, Sgp-60
MMRRC Submission 038521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0311 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171682009-171705258 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 171699580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 191 (Y191*)
Ref Sequence ENSEMBL: ENSMUSP00000064241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015499] [ENSMUST00000068584]
AlphaFold P18181
PDB Structure Structure of NK cell receptor 2B4 (CD244) bound to its ligand CD48 [X-RAY DIFFRACTION]
Structure of NK cell receptor ligand CD48 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000015499
SMART Domains Protein: ENSMUSP00000015499
Gene: ENSMUSG00000015355

signal peptide 1 22 N/A INTRINSIC
IG 28 125 1.96e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000068584
AA Change: Y191*
SMART Domains Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: Y191*

signal peptide 1 22 N/A INTRINSIC
IG 28 125 1.96e-6 SMART
IG_like 136 211 1.24e2 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.6%
  • 20x: 91.6%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in a slight increase in CD4+CD8- thymocytes and impaired T cell proliferation in response to mitogens, anti-CD3 antibodies, and alloantigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A C 7: 120,402,904 M1547L probably damaging Het
Abcb4 A G 5: 8,934,243 K658E probably benign Het
Abr A G 11: 76,509,127 S15P possibly damaging Het
Adgrb2 G C 4: 130,017,129 A1168P probably damaging Het
Adgre4 A T 17: 55,802,010 E339V probably benign Het
Asprv1 T C 6: 86,628,840 W223R probably damaging Het
Ccdc89 A G 7: 90,426,693 E37G probably damaging Het
Chd4 T C 6: 125,101,665 I257T probably benign Het
Clca4b T C 3: 144,932,496 M2V probably benign Het
Dnah11 A T 12: 118,127,133 D1025E probably benign Het
Erich5 A G 15: 34,472,939 *363W probably null Het
Etl4 A G 2: 20,807,129 D1341G probably damaging Het
Fbxw11 A G 11: 32,722,083 T184A probably benign Het
Fktn A G 4: 53,744,620 Q300R probably benign Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Gdpd3 G A 7: 126,767,189 R66Q possibly damaging Het
Hexb A G 13: 97,183,819 probably benign Het
Kdm4b A G 17: 56,386,200 R346G probably benign Het
Mbtd1 T A 11: 93,921,357 probably null Het
Med23 T A 10: 24,897,358 C653S possibly damaging Het
Nwd2 A T 5: 63,804,998 I642L probably damaging Het
Olfr1444 A G 19: 12,861,869 I31M probably benign Het
Olfr1448 T A 19: 12,920,096 Y71F possibly damaging Het
Olfr912 T C 9: 38,539,297 V134A probably benign Het
Pbld2 T C 10: 63,054,507 probably null Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Pkd1l3 G A 8: 109,623,663 S380N probably benign Het
Plpp2 C T 10: 79,527,580 R77K probably damaging Het
Pym1 G T 10: 128,765,984 R168L possibly damaging Het
Rbm4 T C 19: 4,787,556 Y300C probably damaging Het
Rnf207 A G 4: 152,315,779 C175R probably damaging Het
Sema6a G A 18: 47,290,045 probably null Het
Speg T C 1: 75,430,937 V3196A probably damaging Het
Syne1 T A 10: 5,348,943 I1048L possibly damaging Het
Th T C 7: 142,896,041 E41G probably damaging Het
Tmx4 T A 2: 134,598,526 *336L probably null Het
Tnfrsf18 T C 4: 156,026,415 V10A possibly damaging Het
Tnxb A T 17: 34,716,984 I2670F probably damaging Het
Tpx2 T C 2: 152,890,492 V562A probably damaging Het
Vmn2r73 A G 7: 85,871,789 S324P probably benign Het
Vps18 T C 2: 119,297,365 Y890H probably benign Het
Ythdc1 G A 5: 86,835,705 D670N probably damaging Het
Other mutations in Cd48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Cd48 APN 1 171695739 missense possibly damaging 0.95
IGL03140:Cd48 APN 1 171695883 missense probably damaging 1.00
R0490:Cd48 UTSW 1 171704877 makesense probably null
R1365:Cd48 UTSW 1 171699561 missense probably damaging 0.98
R1503:Cd48 UTSW 1 171695847 missense probably damaging 1.00
R1626:Cd48 UTSW 1 171682119 missense probably benign 0.30
R1628:Cd48 UTSW 1 171704852 missense probably damaging 0.99
R4076:Cd48 UTSW 1 171695883 missense probably damaging 1.00
R4753:Cd48 UTSW 1 171699588 missense probably damaging 0.99
R5488:Cd48 UTSW 1 171695705 missense possibly damaging 0.94
R6365:Cd48 UTSW 1 171682164 missense probably null 0.84
R7216:Cd48 UTSW 1 171695822 missense probably damaging 1.00
R7400:Cd48 UTSW 1 171695925 missense probably benign 0.00
R7702:Cd48 UTSW 1 171695780 missense probably damaging 0.99
R8041:Cd48 UTSW 1 171699390 missense probably damaging 0.99
R9424:Cd48 UTSW 1 171704864 missense possibly damaging 0.92
Z1088:Cd48 UTSW 1 171695727 missense possibly damaging 0.89
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-16