Incidental Mutation 'R1352:Cd226'
| ID |
156720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd226
|
| Ensembl Gene |
ENSMUSG00000034028 |
| Gene Name |
CD226 antigen |
| Synonyms |
DNAM1, DNAM-1, TLiSA1, Pta1 |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
89195091-89290353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89265298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 79
(Y79C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037142]
[ENSMUST00000097496]
|
| AlphaFold |
Q8K4F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037142
AA Change: Y192C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
AA Change: Y192C
| 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 damaging
Transcript: ENSMUST00000097496
AA Change: Y79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
AA Change: Y79C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
25 |
130 |
9.26e-8 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably damaging |
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 |
|
|
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 |
|
R2354:Cd226
|
UTSW |
18 |
89,265,107 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- ATAGCAGCACCCTCGGATAGCTAC -3'
(R):5'- GACCAATTCAAGGTCGTTGGGTTTG -3'
Sequencing Primer
(F):5'- ACTTGGCCAGTGCAACAA -3'
(R):5'- TACTAGAAACATATCCTGTCACTCAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation