Mutagenetix > Incidental Mutation

Incidental Mutation 'R0490:Cd48'

43418

Institutional Source

Beutler Lab

Gene Symbol

Cd48

Ensembl Gene

ENSMUSG00000015355

Gene Name

CD48 antigen

Synonyms

Sgp-60, BCM1, Bcm-1, BLAST-1

MMRRC Submission

038688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0490 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

171509577-171532826 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 171532445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 241 (*241W)

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 null
Transcript: ENSMUST00000015499
AA Change: *152W

SMART Domains

Protein: ENSMUSP00000015499
Gene: ENSMUSG00000015355
AA Change: *152W

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	28	125	1.96e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000068584
AA Change: *241W

SMART Domains

Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: *241W

Domain	Start	End	E-Value	Type
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

0.8579

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

100% (60/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,103,338 (GRCm39)	Y640N	probably damaging	Het
Adamts9	T	A	6: 92,849,847 (GRCm39)	Q402L	probably benign	Het
Als2cl	A	G	9: 110,724,414 (GRCm39)	T750A	probably benign	Het
Ank1	C	A	8: 23,597,890 (GRCm39)		probably benign	Het
Ap4e1	T	A	2: 126,888,106 (GRCm39)	N404K	probably damaging	Het
Atf7ip	G	T	6: 136,586,190 (GRCm39)		probably benign	Het
Bean1	A	T	8: 104,941,660 (GRCm39)	T169S	possibly damaging	Het
Bod1l	G	T	5: 41,979,235 (GRCm39)	T693N	probably damaging	Het
Ccdc81	A	T	7: 89,536,970 (GRCm39)	V226D	probably benign	Het
Cdon	C	A	9: 35,363,978 (GRCm39)	S32Y	probably damaging	Het
Cers3	A	G	7: 66,423,438 (GRCm39)	S128G	possibly damaging	Het
Cntn6	T	C	6: 104,810,879 (GRCm39)	V641A	possibly damaging	Het
Col6a4	G	A	9: 105,890,969 (GRCm39)	T1775I	probably damaging	Het
Dnah8	T	C	17: 30,919,393 (GRCm39)	V1122A	probably benign	Het
Dst	G	T	1: 34,346,449 (GRCm39)	G5102*	probably null	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Epha5	G	T	5: 84,255,833 (GRCm39)		probably benign	Het
Fscb	G	A	12: 64,519,661 (GRCm39)	P602S	unknown	Het
Fxn	A	G	19: 24,254,543 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,808,291 (GRCm39)	L254P	possibly damaging	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Gng8	A	G	7: 16,628,908 (GRCm39)	T14A	probably benign	Het
Gsdmc3	C	T	15: 63,732,099 (GRCm39)	G309D	possibly damaging	Het
Gsr	T	A	8: 34,161,540 (GRCm39)		probably benign	Het
Gtdc1	A	T	2: 44,525,052 (GRCm39)	D152E	probably benign	Het
Herc1	A	G	9: 66,392,281 (GRCm39)	D4063G	probably damaging	Het
Hsdl2	C	T	4: 59,612,814 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 88,021,363 (GRCm39)		probably benign	Het
Kcnj10	A	G	1: 172,197,019 (GRCm39)	T178A	probably damaging	Het
Lama5	T	A	2: 179,821,962 (GRCm39)	I2958F	possibly damaging	Het
Lnx1	T	A	5: 74,781,008 (GRCm39)		probably null	Het
Lpl	A	G	8: 69,349,343 (GRCm39)	R290G	probably damaging	Het
Mamdc4	C	T	2: 25,453,593 (GRCm39)	R1196K	probably benign	Het
Mogat2	T	C	7: 98,872,351 (GRCm39)	S167G	probably benign	Het
Nek8	T	A	11: 78,058,555 (GRCm39)	I582F	probably benign	Het
Notch4	T	A	17: 34,801,864 (GRCm39)	D1237E	probably damaging	Het
Or2y8	A	G	11: 52,035,493 (GRCm39)	I288T	probably damaging	Het
Or5b104	A	G	19: 13,072,176 (GRCm39)	Y279H	probably damaging	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Or9i14	A	G	19: 13,792,219 (GRCm39)	L245P	probably damaging	Het
Pcdhb8	T	C	18: 37,489,833 (GRCm39)	S504P	probably damaging	Het
Pigs	T	C	11: 78,226,451 (GRCm39)	S223P	probably damaging	Het
Prkch	A	G	12: 73,806,450 (GRCm39)	I566V	probably damaging	Het
Ptpn22	T	C	3: 103,793,495 (GRCm39)	S549P	probably damaging	Het
Rita1	A	T	5: 120,749,630 (GRCm39)	F28I	probably damaging	Het
Rpgrip1l	A	T	8: 92,026,473 (GRCm39)		probably benign	Het
Slc1a1	A	G	19: 28,874,931 (GRCm39)	K170E	probably benign	Het
Spag17	C	T	3: 99,889,727 (GRCm39)	R199W	probably damaging	Het
Tas2r116	T	C	6: 132,832,984 (GRCm39)	V195A	probably benign	Het
Trav7d-3	C	A	14: 52,982,007 (GRCm39)		probably benign	Het
Trim15	T	C	17: 37,177,247 (GRCm39)	K138E	probably benign	Het
Ttn	T	A	2: 76,539,174 (GRCm39)	H34604L	probably benign	Het
Ttn	C	T	2: 76,577,876 (GRCm39)	R16012K	probably damaging	Het
Zfp948	T	C	17: 21,808,296 (GRCm39)	V496A	probably benign	Het
Zfy2	A	T	Y: 2,106,620 (GRCm39)	S671R	possibly damaging	Het
Zswim1	T	A	2: 164,667,203 (GRCm39)	Y152N	possibly damaging	Het

Other mutations in Cd48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0311:Cd48	UTSW	1	171,527,148 (GRCm39)	nonsense	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'- TTGCAAAGAAGAGGATTTCCCCAGG -3'
(R):5'- GTCAGTGGTGGAGCACTGTACAAG -3'

Sequencing Primer
(F):5'- GAGGATTTCCCCAGGTAACTG -3'
(R):5'- AGCACTGTACAAGGTCCTGTG -3'

Posted On

2013-05-23