Incidental Mutation 'IGL01637:Itga2b'
| ID |
93068 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itga2b
|
| Ensembl Gene |
ENSMUSG00000034664 |
| Gene Name |
integrin alpha 2b |
| Synonyms |
CD41, GpIIb, platelet glycoprotein IIb, alphaIIb, GP IIb |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102346409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1009
(L1009P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
| AlphaFold |
Q9QUM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103086
AA Change: L1009P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: L1009P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Int_alpha
|
46 |
103 |
2.34e-10 |
SMART |
|
Int_alpha
|
261 |
311 |
1.3e-3 |
SMART |
|
Int_alpha
|
315 |
376 |
4.9e-13 |
SMART |
|
Int_alpha
|
382 |
438 |
4.34e-14 |
SMART |
|
Int_alpha
|
443 |
494 |
4.05e-5 |
SMART |
|
low complexity region
|
552 |
567 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa2
|
635 |
770 |
1e-48 |
SMART |
|
SCOP:d1m1xa3
|
775 |
995 |
3e-66 |
SMART |
|
Pfam:Integrin_alpha
|
1015 |
1029 |
5.7e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174900
|
| 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 member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,604,109 (GRCm39) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,832,901 (GRCm39) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 63,070,357 (GRCm39) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,394,580 (GRCm39) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,799,670 (GRCm39) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,729,901 (GRCm39) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,789,399 (GRCm39) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,824,078 (GRCm39) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 15,939,398 (GRCm39) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 134,739,542 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,244,625 (GRCm39) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,412 (GRCm39) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,252,254 (GRCm39) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm39) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,934,548 (GRCm39) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,394,823 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,304,073 (GRCm39) |
N56S |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,286,917 (GRCm39) |
V172E |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,520,224 (GRCm39) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,534,906 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,874,949 (GRCm39) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,413,856 (GRCm39) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,231,353 (GRCm39) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,860,123 (GRCm39) |
I90F |
possibly damaging |
Het |
| Kif1a |
A |
G |
1: 92,967,575 (GRCm39) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,237 (GRCm39) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,022 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,051,489 (GRCm39) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,058,845 (GRCm39) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,199,739 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,988,495 (GRCm39) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,946 (GRCm39) |
H2101Q |
probably damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,440,204 (GRCm39) |
L594I |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,376 (GRCm39) |
T2013I |
probably damaging |
Het |
| Or2ah1 |
A |
T |
2: 85,653,332 (GRCm39) |
T6S |
probably benign |
Het |
| Or2y3 |
G |
A |
17: 38,392,994 (GRCm39) |
L292F |
possibly damaging |
Het |
| Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
| Or6c216 |
A |
G |
10: 129,678,479 (GRCm39) |
L144P |
probably benign |
Het |
| Or7g27 |
T |
C |
9: 19,250,260 (GRCm39) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,575,352 (GRCm39) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,048 (GRCm39) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,126,136 (GRCm39) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,224,992 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,651 (GRCm39) |
F211L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,833,066 (GRCm39) |
P666S |
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,935,437 (GRCm39) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,172 (GRCm39) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,216 (GRCm39) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,286,576 (GRCm39) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 106,687,339 (GRCm39) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 97,932,180 (GRCm39) |
E241G |
probably benign |
Het |
| Tafa3 |
C |
T |
3: 104,680,395 (GRCm39) |
V75M |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,592 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,205,946 (GRCm39) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,807,262 (GRCm39) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,267,580 (GRCm39) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,759 (GRCm39) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm39) |
T3623I |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,973,213 (GRCm39) |
S797T |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,373 (GRCm39) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,622,699 (GRCm39) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,732 (GRCm39) |
H676R |
probably benign |
Het |
|
| Other mutations in Itga2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02197:Itga2b
|
APN |
11 |
102,357,145 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02349:Itga2b
|
APN |
11 |
102,352,189 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02711:Itga2b
|
APN |
11 |
102,356,551 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0282:Itga2b
|
UTSW |
11 |
102,351,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0349:Itga2b
|
UTSW |
11 |
102,358,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0384:Itga2b
|
UTSW |
11 |
102,356,188 (GRCm39) |
splice site |
probably null |
|
|
R0403:Itga2b
|
UTSW |
11 |
102,358,152 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0452:Itga2b
|
UTSW |
11 |
102,356,779 (GRCm39) |
splice site |
probably null |
|
|
R0535:Itga2b
|
UTSW |
11 |
102,348,359 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1412:Itga2b
|
UTSW |
11 |
102,347,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1517:Itga2b
|
UTSW |
11 |
102,357,151 (GRCm39) |
nonsense |
probably null |
|
|
R1615:Itga2b
|
UTSW |
11 |
102,350,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1716:Itga2b
|
UTSW |
11 |
102,351,603 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1953:Itga2b
|
UTSW |
11 |
102,349,009 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2001:Itga2b
|
UTSW |
11 |
102,358,165 (GRCm39) |
missense |
probably benign |
|
|
R2216:Itga2b
|
UTSW |
11 |
102,358,692 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4193:Itga2b
|
UTSW |
11 |
102,360,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4770:Itga2b
|
UTSW |
11 |
102,351,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:Itga2b
|
UTSW |
11 |
102,358,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4880:Itga2b
|
UTSW |
11 |
102,348,548 (GRCm39) |
intron |
probably benign |
|
|
R4906:Itga2b
|
UTSW |
11 |
102,351,985 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5112:Itga2b
|
UTSW |
11 |
102,349,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5362:Itga2b
|
UTSW |
11 |
102,351,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Itga2b
|
UTSW |
11 |
102,356,735 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5761:Itga2b
|
UTSW |
11 |
102,357,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5840:Itga2b
|
UTSW |
11 |
102,352,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Itga2b
|
UTSW |
11 |
102,348,427 (GRCm39) |
intron |
probably benign |
|
|
R6239:Itga2b
|
UTSW |
11 |
102,356,144 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6491:Itga2b
|
UTSW |
11 |
102,350,695 (GRCm39) |
splice site |
probably null |
|
|
R7426:Itga2b
|
UTSW |
11 |
102,347,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7635:Itga2b
|
UTSW |
11 |
102,352,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Itga2b
|
UTSW |
11 |
102,351,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Itga2b
|
UTSW |
11 |
102,348,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8120:Itga2b
|
UTSW |
11 |
102,360,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8254:Itga2b
|
UTSW |
11 |
102,358,212 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8296:Itga2b
|
UTSW |
11 |
102,351,985 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8362:Itga2b
|
UTSW |
11 |
102,352,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Itga2b
|
UTSW |
11 |
102,351,687 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8901:Itga2b
|
UTSW |
11 |
102,351,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8985:Itga2b
|
UTSW |
11 |
102,356,288 (GRCm39) |
intron |
probably benign |
|
|
R9277:Itga2b
|
UTSW |
11 |
102,351,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Itga2b
|
UTSW |
11 |
102,346,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9496:Itga2b
|
UTSW |
11 |
102,358,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Itga2b
|
UTSW |
11 |
102,348,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Itga2b
|
UTSW |
11 |
102,357,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation