Mutagenetix > Incidental Mutation

Incidental Mutation 'R4753:Cd48'

357713

Institutional Source

Beutler Lab

Gene Symbol

Cd48

Ensembl Gene

ENSMUSG00000015355

Gene Name

CD48 antigen

Synonyms

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

MMRRC Submission

041971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171509577-171532826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171527156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 194 (Q194R)

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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068584
AA Change: Q194R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: Q194R

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

0.4711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	A	13: 112,500,009 (GRCm39)	D257E	probably benign	Het
Arhgef18	T	C	8: 3,494,938 (GRCm39)	V399A	probably damaging	Het
Atp8b5	C	T	4: 43,372,710 (GRCm39)	P1117S	probably damaging	Het
Cdk13	G	A	13: 17,937,833 (GRCm39)	R737C	probably damaging	Het
Clasrp	A	T	7: 19,328,865 (GRCm39)	I89N	probably damaging	Het
Clrn1	G	T	3: 58,792,318 (GRCm39)	N48K	probably damaging	Het
Cntrl	T	A	2: 35,043,451 (GRCm39)	V1313E	possibly damaging	Het
Cyld	T	A	8: 89,471,444 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dtl	T	C	1: 191,301,815 (GRCm39)	T81A	probably damaging	Het
Dus1l	C	T	11: 120,682,901 (GRCm39)	E299K	probably benign	Het
E130114P18Rik	A	T	4: 97,463,129 (GRCm39)	D14E	possibly damaging	Het
Fam83g	C	A	11: 61,586,095 (GRCm39)	H228N	probably damaging	Het
Fhod3	A	T	18: 25,223,382 (GRCm39)	K909N	possibly damaging	Het
Fign	T	A	2: 63,809,363 (GRCm39)	I636L	probably benign	Het
Foxm1	A	G	6: 128,349,519 (GRCm39)	E346G	probably null	Het
Gcc2	T	C	10: 58,126,204 (GRCm39)	Y1271H	probably benign	Het
Gcn1	T	C	5: 115,754,537 (GRCm39)	V2379A	probably benign	Het
Grin2d	G	T	7: 45,483,330 (GRCm39)	P949Q	probably damaging	Het
Ighv1-43	C	A	12: 114,909,762 (GRCm39)	M53I	probably benign	Het
Itgad	A	G	7: 127,822,875 (GRCm39)	*97W	probably null	Het
Jade1	C	T	3: 41,551,106 (GRCm39)	R2*	probably null	Het
Lama3	G	T	18: 12,615,141 (GRCm39)	C1355F	probably damaging	Het
Map3k13	T	C	16: 21,710,752 (GRCm39)	S12P	probably benign	Het
Masp2	A	G	4: 148,696,608 (GRCm39)	T402A	probably benign	Het
Mill1	A	C	7: 17,996,472 (GRCm39)	K96T	probably benign	Het
Muc19	T	G	15: 91,761,955 (GRCm39)		noncoding transcript	Het
Muc5b	C	A	7: 141,410,590 (GRCm39)	T1321N	unknown	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or1ad1	T	C	11: 50,875,978 (GRCm39)	V150A	probably benign	Het
Or1e35	T	A	11: 73,797,677 (GRCm39)	I214F	probably damaging	Het
Pdgfra	C	T	5: 75,342,185 (GRCm39)	P669S	probably damaging	Het
Procr	A	G	2: 155,595,384 (GRCm39)	N63D	probably damaging	Het
Prrc2c	A	G	1: 162,518,799 (GRCm39)	S2136P	probably damaging	Het
Rab11fip1	T	C	8: 27,642,769 (GRCm39)	M677V	probably benign	Het
Rad52	T	A	6: 119,889,946 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,436,509 (GRCm39)		probably null	Het
Rogdi	T	C	16: 4,828,363 (GRCm39)	T189A	probably damaging	Het
Rph3al	G	A	11: 75,799,845 (GRCm39)	T38M	probably damaging	Het
Rps6ka2	T	A	17: 7,566,707 (GRCm39)	V655E	possibly damaging	Het
Sik3	T	C	9: 46,109,512 (GRCm39)	F499L	probably damaging	Het
Skint4	A	G	4: 112,003,728 (GRCm39)	N387S	probably benign	Het
Slc6a12	C	T	6: 121,333,862 (GRCm39)		probably benign	Het
Stk36	A	G	1: 74,665,255 (GRCm39)	T667A	probably benign	Het
Svep1	T	C	4: 58,053,212 (GRCm39)	I3378V	probably benign	Het
Thnsl1	C	T	2: 21,218,175 (GRCm39)	T122I	probably damaging	Het
Timeless	G	A	10: 128,075,889 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,914,909 (GRCm39)	V1966I	possibly damaging	Het
Tril	A	G	6: 53,796,698 (GRCm39)	F175L	probably damaging	Het
Vav1	A	G	17: 57,613,140 (GRCm39)	Y604C	probably damaging	Het
Zfp423	T	A	8: 88,508,074 (GRCm39)	M736L	probably benign	Het
Zscan10	A	C	17: 23,826,208 (GRCm39)	E123D	probably 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
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
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'- AATCAGATCCTGTGCCCAAG -3'
(R):5'- ATGTCAGTGACACCTTTGAGAC -3'

Sequencing Primer
(F):5'- GTGCCCAAGCCTTCCATAG -3'
(R):5'- GTGACACCTTTGAGACTCGAC -3'

Posted On

2015-11-11