Incidental Mutation 'R2354:Cd226'
| ID |
246847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd226
|
| Ensembl Gene |
ENSMUSG00000034028 |
| Gene Name |
CD226 antigen |
| Synonyms |
DNAM1, DNAM-1, TLiSA1, Pta1 |
| MMRRC Submission |
040336-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
89195091-89290353 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 89265107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037142]
[ENSMUST00000037142]
[ENSMUST00000097496]
[ENSMUST00000097496]
|
| AlphaFold |
Q8K4F0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037142
|
| SMART Domains |
Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
22 |
126 |
4.46e-1 |
SMART |
|
IG
|
138 |
243 |
9.26e-8 |
SMART |
|
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000037142
|
| SMART Domains |
Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
22 |
126 |
4.46e-1 |
SMART |
|
IG
|
138 |
243 |
9.26e-8 |
SMART |
|
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097496
|
| SMART Domains |
Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
25 |
130 |
9.26e-8 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097496
|
| SMART Domains |
Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
25 |
130 |
9.26e-8 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and increased incidence of tumor formation and mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
| Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
| Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
| Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
| Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
| Other mutations in Cd226 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01682:Cd226
|
APN |
18 |
89,287,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02292:Cd226
|
APN |
18 |
89,225,216 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02298:Cd226
|
APN |
18 |
89,225,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Cd226
|
APN |
18 |
89,225,451 (GRCm39) |
missense |
probably benign |
|
|
R0179:Cd226
|
UTSW |
18 |
89,225,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Cd226
|
UTSW |
18 |
89,225,338 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0602:Cd226
|
UTSW |
18 |
89,287,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0744:Cd226
|
UTSW |
18 |
89,225,144 (GRCm39) |
intron |
probably benign |
|
|
R0833:Cd226
|
UTSW |
18 |
89,225,144 (GRCm39) |
intron |
probably benign |
|
|
R1125:Cd226
|
UTSW |
18 |
89,286,046 (GRCm39) |
missense |
probably benign |
|
|
R1352:Cd226
|
UTSW |
18 |
89,265,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Cd226
|
UTSW |
18 |
89,265,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1370:Cd226
|
UTSW |
18 |
89,265,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1998:Cd226
|
UTSW |
18 |
89,225,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Cd226
|
UTSW |
18 |
89,265,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2006:Cd226
|
UTSW |
18 |
89,265,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2045:Cd226
|
UTSW |
18 |
89,225,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2518:Cd226
|
UTSW |
18 |
89,225,451 (GRCm39) |
missense |
probably benign |
|
|
R4603:Cd226
|
UTSW |
18 |
89,225,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Cd226
|
UTSW |
18 |
89,225,292 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5964:Cd226
|
UTSW |
18 |
89,225,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5999:Cd226
|
UTSW |
18 |
89,225,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Cd226
|
UTSW |
18 |
89,265,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Cd226
|
UTSW |
18 |
89,224,747 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7509:Cd226
|
UTSW |
18 |
89,265,195 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7714:Cd226
|
UTSW |
18 |
89,265,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Cd226
|
UTSW |
18 |
89,287,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Cd226
|
UTSW |
18 |
89,265,444 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9651:Cd226
|
UTSW |
18 |
89,265,395 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Cd226
|
UTSW |
18 |
89,281,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCCTGGGTTTCAGTTATG -3'
(R):5'- TCTTGAGATAGGTTACAGGAAGC -3'
Sequencing Primer
(F):5'- ACCCTGGGTTTCAGTTATGTTTCTAG -3'
(R):5'- TACAGGAAGCTAAGATGTCTACCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation