Incidental Mutation 'IGL00770:Cd2'
| ID |
277899 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd2
|
| Ensembl Gene |
ENSMUSG00000027863 |
| Gene Name |
CD2 antigen |
| Synonyms |
LFA-2, Ly-37, Ly37 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00770
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
101183224-101195255 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 101190345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029456]
|
| AlphaFold |
P08920 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029456
|
| SMART Domains |
Protein: ENSMUSP00000029456
Gene: ENSMUSG00000027863
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
23 |
121 |
3.5e-10 |
PFAM |
|
Pfam:C2-set
|
129 |
199 |
4.1e-17 |
PFAM |
|
transmembrane domain
|
206 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152321
|
| SMART Domains |
Protein: ENSMUSP00000116891
Gene: ENSMUSG00000027863
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
1 |
75 |
2.6e-10 |
PFAM |
|
Pfam:C2-set
|
85 |
139 |
2.7e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156103
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a surface antigen found on all peripheral blood T-cells. The encoded protein interacts with LFA3 (CD58) on antigen presenting cells to optimize immune recognition. A locus control region (LCR) has been found in the 3' flanking sequence of this gene. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
| Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
| Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
| Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
| Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
| Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
| Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
| Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
| Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
| Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
| Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
|
| Other mutations in Cd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Cd2
|
APN |
3 |
101,190,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00774:Cd2
|
APN |
3 |
101,190,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0969:Cd2
|
UTSW |
3 |
101,183,371 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1120:Cd2
|
UTSW |
3 |
101,194,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:Cd2
|
UTSW |
3 |
101,183,511 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1753:Cd2
|
UTSW |
3 |
101,194,815 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4624:Cd2
|
UTSW |
3 |
101,194,747 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5091:Cd2
|
UTSW |
3 |
101,190,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9235:Cd2
|
UTSW |
3 |
101,195,159 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0065:Cd2
|
UTSW |
3 |
101,183,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cd2
|
UTSW |
3 |
101,183,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation