Mutagenetix > Incidental Mutation

Incidental Mutation 'R8041:Cd48'

618500

Institutional Source

Beutler Lab

Gene Symbol

Cd48

Ensembl Gene

ENSMUSG00000015355

Gene Name

CD48 antigen

Synonyms

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

MMRRC Submission

067478-MU

Accession Numbers

Essential gene?

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

Stock #

R8041 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171509577-171532826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171526958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 128 (V128A)

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: V128A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: V128A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	A	T	18: 61,891,754 (GRCm39)	L21Q	probably damaging	Het
Ago1	G	A	4: 126,335,729 (GRCm39)	R661C	probably damaging	Het
Albfm1	T	A	5: 90,740,864 (GRCm39)		probably null	Het
Aoc3	T	C	11: 101,223,132 (GRCm39)	V456A	probably benign	Het
Aopep	G	C	13: 63,180,921 (GRCm39)	W294C	probably damaging	Het
Cacna1b	A	T	2: 24,547,311 (GRCm39)	F1223L	probably damaging	Het
Ccdc40	T	C	11: 119,122,507 (GRCm39)	F33S	possibly damaging	Het
Ccnjl	T	C	11: 43,470,538 (GRCm39)	V102A	probably damaging	Het
Cmah	A	G	13: 24,652,601 (GRCm39)	D577G	probably benign	Het
Cnnm4	A	G	1: 36,511,174 (GRCm39)	K134R	probably benign	Het
Cntnap5a	T	A	1: 116,187,209 (GRCm39)	Y594N	probably damaging	Het
Col14a1	A	G	15: 55,318,626 (GRCm39)	E1375G	unknown	Het
Comtd1	T	A	14: 21,897,985 (GRCm39)	E153V	probably benign	Het
Dchs1	T	A	7: 105,404,395 (GRCm39)	T2716S	probably benign	Het
Ddx4	A	T	13: 112,762,928 (GRCm39)	S143T	probably benign	Het
Dlg1	A	G	16: 31,656,885 (GRCm39)	D593G	possibly damaging	Het
Dok6	A	G	18: 89,578,213 (GRCm39)	I68T	possibly damaging	Het
Dpysl5	A	G	5: 30,953,658 (GRCm39)	I563V	probably benign	Het
Eapp	A	G	12: 54,739,650 (GRCm39)	S56P	probably damaging	Het
Efcab3	T	G	11: 104,810,305 (GRCm39)	D3147E	unknown	Het
Fgd5	A	T	6: 92,038,837 (GRCm39)	D1157V	probably damaging	Het
Fmn1	T	A	2: 113,194,939 (GRCm39)	L213Q	unknown	Het
Foxo1	T	A	3: 52,253,044 (GRCm39)	Y402*	probably null	Het
Fyb2	C	A	4: 104,857,681 (GRCm39)	F619L	possibly damaging	Het
Gtf2i	A	T	5: 134,322,599 (GRCm39)		probably null	Het
Hrh1	G	A	6: 114,456,878 (GRCm39)	R53H	not run	Het
Hydin	A	T	8: 111,301,626 (GRCm39)	M3786L	probably benign	Het
Ifi207	T	C	1: 173,555,268 (GRCm39)	R805G	possibly damaging	Het
Igfn1	C	A	1: 135,895,797 (GRCm39)	G1590*	probably null	Het
Jph3	A	C	8: 122,516,201 (GRCm39)	I740L	probably benign	Het
Kbtbd7	T	A	14: 79,666,144 (GRCm39)	F659I	probably benign	Het
Kcns2	A	T	15: 34,839,291 (GRCm39)	Q218L	probably benign	Het
Kcnt2	A	G	1: 140,537,398 (GRCm39)	N1119S	probably benign	Het
Krit1	A	T	5: 3,857,309 (GRCm39)	H38L	probably benign	Het
Krt20	T	A	11: 99,328,663 (GRCm39)	R87S	probably damaging	Het
Ly6g5c	A	G	17: 35,330,808 (GRCm39)	E110G	probably damaging	Het
Mamdc4	A	G	2: 25,454,707 (GRCm39)	F1035S	probably damaging	Het
Mmp13	A	T	9: 7,280,865 (GRCm39)	D416V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,352,768 (GRCm39)	L566*	probably null	Het
Or12d17	T	C	17: 37,777,540 (GRCm39)	F148L	probably benign	Het
Or4b12	A	T	2: 90,096,488 (GRCm39)	C95*	probably null	Het
Or51ai2	T	C	7: 103,586,788 (GRCm39)	L67P	probably damaging	Het
Or5p69	T	C	7: 107,966,741 (GRCm39)	F15L	probably damaging	Het
Pcdhb19	T	C	18: 37,630,367 (GRCm39)	L54P	possibly damaging	Het
Pitpnm2	A	G	5: 124,259,519 (GRCm39)	F1272S	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Reep4	T	C	14: 70,785,627 (GRCm39)	Y186H	probably benign	Het
Rpgrip1	A	G	14: 52,356,702 (GRCm39)	T89A	possibly damaging	Het
Shc1	T	C	3: 89,330,260 (GRCm39)	S175P	probably damaging	Het
Sipa1l3	A	G	7: 29,063,645 (GRCm39)	S1156P	probably damaging	Het
Slc1a3	G	A	15: 8,665,683 (GRCm39)	P522L	probably benign	Het
Slc6a17	T	A	3: 107,381,744 (GRCm39)	T446S	probably damaging	Het
Tas1r2	A	T	4: 139,387,290 (GRCm39)	N250Y	possibly damaging	Het
Tex15	G	T	8: 34,065,874 (GRCm39)	R1768L	probably damaging	Het
Ttll9	G	C	2: 152,844,956 (GRCm39)	Q441H	possibly damaging	Het
Unc5c	T	A	3: 141,171,545 (GRCm39)	V24E	possibly damaging	Het
Unc79	A	G	12: 103,054,726 (GRCm39)	E888G	probably benign	Het
Vmn2r19	T	C	6: 123,312,750 (GRCm39)	S607P	possibly damaging	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Wdfy4	A	G	14: 32,875,965 (GRCm39)		probably null	Het
Zbtb49	T	C	5: 38,358,198 (GRCm39)	D685G	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
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
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'- CAAAATTGCTCGCTGGCTC -3'
(R):5'- TGCTGCTTACAGGATTGCTG -3'

Sequencing Primer
(F):5'- TGGCTCCATCTGTAGGAGACTC -3'
(R):5'- ACAGGATTGCTGACTTGGCAG -3'

Posted On

2020-01-23