Incidental Mutation 'IGL00338:Cd244a'
| ID |
332331 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd244a
|
| Ensembl Gene |
ENSMUSG00000004709 |
| Gene Name |
CD244 molecule A |
| Synonyms |
Cd244, Nmrk, C9.1, F730046O15Rik, 2B4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171386287-171412884 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 171401938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004829]
[ENSMUST00000194797]
|
| AlphaFold |
Q07763 |
| PDB Structure |
NMR structure of the D1 domain of the Natural Killer Cell Receptor, 2B4 [SOLUTION NMR]
Structure of NK cell receptor 2B4 (CD244) bound to its ligand CD48 [X-RAY DIFFRACTION]
Structure of NK cell receptor 2B4 (CD244) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000004829
|
| SMART Domains |
Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
128 |
4.23e-2 |
SMART |
|
Blast:IG_like
|
146 |
222 |
8e-19 |
BLAST |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194797
|
| SMART Domains |
Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
128 |
4.23e-2 |
SMART |
|
Pfam:Ig_2
|
134 |
221 |
6.5e-5 |
PFAM |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195804
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis. Mice homozygous for an ENU-generated allele exhibit reduced 'missing-self' targets recognition and elimination and increased clearance of B16 melanoma tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
| Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
| Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
| Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
| Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
| Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
| Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
| Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
| Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
| Other mutations in Cd244a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Cd244a
|
APN |
1 |
171,401,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01689:Cd244a
|
APN |
1 |
171,410,462 (GRCm39) |
intron |
probably benign |
|
|
IGL02327:Cd244a
|
APN |
1 |
171,386,909 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0022:Cd244a
|
UTSW |
1 |
171,401,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0930:Cd244a
|
UTSW |
1 |
171,404,801 (GRCm39) |
splice site |
probably null |
|
|
R1055:Cd244a
|
UTSW |
1 |
171,404,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4587:Cd244a
|
UTSW |
1 |
171,405,447 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5517:Cd244a
|
UTSW |
1 |
171,405,542 (GRCm39) |
splice site |
probably benign |
|
|
R5929:Cd244a
|
UTSW |
1 |
171,386,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Cd244a
|
UTSW |
1 |
171,409,208 (GRCm39) |
splice site |
probably null |
|
|
R6346:Cd244a
|
UTSW |
1 |
171,404,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Cd244a
|
UTSW |
1 |
171,405,447 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6612:Cd244a
|
UTSW |
1 |
171,401,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6701:Cd244a
|
UTSW |
1 |
171,401,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6973:Cd244a
|
UTSW |
1 |
171,401,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Cd244a
|
UTSW |
1 |
171,404,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Cd244a
|
UTSW |
1 |
171,404,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Cd244a
|
UTSW |
1 |
171,404,853 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7769:Cd244a
|
UTSW |
1 |
171,404,873 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8910:Cd244a
|
UTSW |
1 |
171,386,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8913:Cd244a
|
UTSW |
1 |
171,401,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Cd244a
|
UTSW |
1 |
171,401,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Cd244a
|
UTSW |
1 |
171,401,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF004:Cd244a
|
UTSW |
1 |
171,405,490 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Cd244a
|
UTSW |
1 |
171,401,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation