Incidental Mutation 'R1365:Cd48'
| ID |
155989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd48
|
| Ensembl Gene |
ENSMUSG00000015355 |
| Gene Name |
CD48 antigen |
| Synonyms |
Sgp-60, BCM1, Bcm-1, BLAST-1 |
| MMRRC Submission |
039430-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171509577-171532826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 171527129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 185
(Q185L)
|
| 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: Q185L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: Q185L
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
| Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,872,564 (GRCm39) |
Q546* |
probably null |
Het |
| Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
| Gtf2b |
T |
C |
3: 142,477,227 (GRCm39) |
I33T |
probably damaging |
Het |
| Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
| Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,162 (GRCm39) |
V361I |
probably benign |
Het |
| Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,767,852 (GRCm39) |
D419G |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
| Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,380,278 (GRCm39) |
S364P |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,891,528 (GRCm39) |
E10G |
probably damaging |
Het |
| Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
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 |
|
|
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 |
2014-02-11 |
Incidental Mutation