Incidental Mutation 'R0311:Cd48'
ID 25156
Institutional Source Beutler Lab
Gene Symbol Cd48
Ensembl Gene ENSMUSG00000015355
Gene Name CD48 antigen
Synonyms Sgp-60, BCM1, Bcm-1, BLAST-1
MMRRC Submission 038521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R0311 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171509577-171532826 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 171527148 bp (GRCm39)
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

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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: 120,002,127 (GRCm39) M1547L probably damaging Het
Abcb4 A G 5: 8,984,243 (GRCm39) K658E probably benign Het
Abr A G 11: 76,399,953 (GRCm39) S15P possibly damaging Het
Adgrb2 G C 4: 129,910,922 (GRCm39) A1168P probably damaging Het
Adgre4 A T 17: 56,109,010 (GRCm39) E339V probably benign Het
Asprv1 T C 6: 86,605,822 (GRCm39) W223R probably damaging Het
Ccdc89 A G 7: 90,075,901 (GRCm39) E37G probably damaging Het
Chd4 T C 6: 125,078,628 (GRCm39) I257T probably benign Het
Clca4b T C 3: 144,638,257 (GRCm39) M2V probably benign Het
Dnah11 A T 12: 118,090,868 (GRCm39) D1025E probably benign Het
Erich5 A G 15: 34,473,085 (GRCm39) *363W probably null Het
Etl4 A G 2: 20,811,940 (GRCm39) D1341G probably damaging Het
Fbxw11 A G 11: 32,672,083 (GRCm39) T184A probably benign Het
Fktn A G 4: 53,744,620 (GRCm39) Q300R probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gdpd3 G A 7: 126,366,361 (GRCm39) R66Q possibly damaging Het
Hexb A G 13: 97,320,327 (GRCm39) probably benign Het
Kdm4b A G 17: 56,693,200 (GRCm39) R346G probably benign Het
Mbtd1 T A 11: 93,812,183 (GRCm39) probably null Het
Med23 T A 10: 24,773,256 (GRCm39) C653S possibly damaging Het
Nwd2 A T 5: 63,962,341 (GRCm39) I642L probably damaging Het
Or5b12 T A 19: 12,897,460 (GRCm39) Y71F possibly damaging Het
Or5b21 A G 19: 12,839,233 (GRCm39) I31M probably benign Het
Or8b48 T C 9: 38,450,593 (GRCm39) V134A probably benign Het
Pbld2 T C 10: 62,890,286 (GRCm39) probably null Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Plpp2 C T 10: 79,363,414 (GRCm39) R77K probably damaging Het
Pym1 G T 10: 128,601,853 (GRCm39) R168L possibly damaging Het
Rbm4 T C 19: 4,837,584 (GRCm39) Y300C probably damaging Het
Rnf207 A G 4: 152,400,236 (GRCm39) C175R probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Speg T C 1: 75,407,581 (GRCm39) V3196A probably damaging Het
Syne1 T A 10: 5,298,943 (GRCm39) I1048L possibly damaging Het
Th T C 7: 142,449,778 (GRCm39) E41G probably damaging Het
Tmx4 T A 2: 134,440,446 (GRCm39) *336L probably null Het
Tnfrsf18 T C 4: 156,110,872 (GRCm39) V10A possibly damaging Het
Tnxb A T 17: 34,935,958 (GRCm39) I2670F probably damaging Het
Tpx2 T C 2: 152,732,412 (GRCm39) V562A probably damaging Het
Vmn2r73 A G 7: 85,520,997 (GRCm39) S324P probably benign Het
Vps18 T C 2: 119,127,846 (GRCm39) Y890H probably benign Het
Ythdc1 G A 5: 86,983,564 (GRCm39) D670N probably damaging Het
Other mutations in Cd48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Cd48 APN 1 171,523,307 (GRCm39) missense possibly damaging 0.95
IGL03140:Cd48 APN 1 171,523,451 (GRCm39) missense probably damaging 1.00
R0490:Cd48 UTSW 1 171,532,445 (GRCm39) makesense probably null
R1365:Cd48 UTSW 1 171,527,129 (GRCm39) missense probably damaging 0.98
R1503:Cd48 UTSW 1 171,523,415 (GRCm39) missense probably damaging 1.00
R1626:Cd48 UTSW 1 171,509,687 (GRCm39) missense probably benign 0.30
R1628:Cd48 UTSW 1 171,532,420 (GRCm39) missense probably damaging 0.99
R4076:Cd48 UTSW 1 171,523,451 (GRCm39) missense probably damaging 1.00
R4753:Cd48 UTSW 1 171,527,156 (GRCm39) missense probably damaging 0.99
R5488:Cd48 UTSW 1 171,523,273 (GRCm39) missense possibly damaging 0.94
R6365:Cd48 UTSW 1 171,509,732 (GRCm39) missense probably null 0.84
R7216:Cd48 UTSW 1 171,523,390 (GRCm39) missense probably damaging 1.00
R7400:Cd48 UTSW 1 171,523,493 (GRCm39) missense probably benign 0.00
R7702:Cd48 UTSW 1 171,523,348 (GRCm39) missense probably damaging 0.99
R8041:Cd48 UTSW 1 171,526,958 (GRCm39) missense probably damaging 0.99
R9424:Cd48 UTSW 1 171,532,432 (GRCm39) missense possibly damaging 0.92
Z1088:Cd48 UTSW 1 171,523,295 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TGTGCCCAAGCCTTCCATAGAAATC -3'
(R):5'- AGAAGCCAAGTCACTCGAATGTCAG -3'

Sequencing Primer
(F):5'- GCCTTCCATAGAAATCAATAAGACTG -3'
(R):5'- CGAATGTCAGTGACACCTTTGAG -3'
Posted On 2013-04-16