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 |
platelet glycoprotein IIb, GpIIb, alphaIIb, GP IIb, CD41 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102453297-102470122 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102455583 bp (GRCm38)
|
| 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: 28,904,684 (GRCm38) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,948,700 (GRCm38) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 62,937,286 (GRCm38) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,744,832 (GRCm38) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,756,455 (GRCm38) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,492,461 (GRCm38) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,759,917 (GRCm38) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,846,710 (GRCm38) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 16,205,473 (GRCm38) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 135,137,813 (GRCm38) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,354,613 (GRCm38) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,860,507 (GRCm38) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,650,525 (GRCm38) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm38) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,281,667 (GRCm38) |
M127L |
possibly damaging |
Het |
| Fam19a3 |
C |
T |
3: 104,773,079 (GRCm38) |
V75M |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,777,205 (GRCm38) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,189,825 (GRCm38) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,598,312 (GRCm38) |
N56S |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,150,409 (GRCm38) |
V172E |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,372,358 (GRCm38) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,623,606 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,967,633 (GRCm38) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,686,545 (GRCm38) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,267,733 (GRCm38) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,896,503 (GRCm38) |
I90F |
possibly damaging |
Het |
| Kif1a |
A |
G |
1: 93,039,853 (GRCm38) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,245,368 (GRCm38) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,375,679 (GRCm38) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,215,628 (GRCm38) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 29,839,871 (GRCm38) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,550,532 (GRCm38) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,840,629 (GRCm38) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,547,120 (GRCm38) |
H2101Q |
probably damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,549,378 (GRCm38) |
L594I |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,146,060 (GRCm38) |
T2013I |
probably damaging |
Het |
| Olfr1018 |
A |
T |
2: 85,822,988 (GRCm38) |
T6S |
probably benign |
Het |
| Olfr131 |
G |
A |
17: 38,082,103 (GRCm38) |
L292F |
possibly damaging |
Het |
| Olfr593 |
C |
A |
7: 103,212,177 (GRCm38) |
R95S |
probably benign |
Het |
| Olfr812 |
A |
G |
10: 129,842,610 (GRCm38) |
L144P |
probably benign |
Het |
| Olfr845 |
T |
C |
9: 19,338,964 (GRCm38) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,664,056 (GRCm38) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,540,034 (GRCm38) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,526,901 (GRCm38) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 70,772,348 (GRCm38) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,641,690 (GRCm38) |
F211L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,106,438 (GRCm38) |
P666S |
probably benign |
Het |
| Rnf123 |
A |
G |
9: 108,058,238 (GRCm38) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,965,171 (GRCm38) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,132,957 (GRCm38) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,148,513 (GRCm38) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 105,960,707 (GRCm38) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 98,041,354 (GRCm38) |
E241G |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,737,629 (GRCm38) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,370,085 (GRCm38) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,674,191 (GRCm38) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 46,956,654 (GRCm38) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,139,900 (GRCm38) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm38) |
T3623I |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,919,064 (GRCm38) |
S797T |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,702,948 (GRCm38) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,645,736 (GRCm38) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,646 (GRCm38) |
H676R |
probably benign |
Het |
|
| Other mutations in Itga2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02197:Itga2b
|
APN |
11 |
102,466,319 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02349:Itga2b
|
APN |
11 |
102,461,363 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02711:Itga2b
|
APN |
11 |
102,465,725 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0282:Itga2b
|
UTSW |
11 |
102,460,846 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0349:Itga2b
|
UTSW |
11 |
102,467,426 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0384:Itga2b
|
UTSW |
11 |
102,465,362 (GRCm38) |
splice site |
probably null |
|
|
R0403:Itga2b
|
UTSW |
11 |
102,467,326 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0452:Itga2b
|
UTSW |
11 |
102,465,953 (GRCm38) |
splice site |
probably null |
|
|
R0535:Itga2b
|
UTSW |
11 |
102,457,533 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1412:Itga2b
|
UTSW |
11 |
102,457,005 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1517:Itga2b
|
UTSW |
11 |
102,466,325 (GRCm38) |
nonsense |
probably null |
|
|
R1615:Itga2b
|
UTSW |
11 |
102,460,137 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1716:Itga2b
|
UTSW |
11 |
102,460,777 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1953:Itga2b
|
UTSW |
11 |
102,458,183 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2001:Itga2b
|
UTSW |
11 |
102,467,339 (GRCm38) |
missense |
probably benign |
|
|
R2216:Itga2b
|
UTSW |
11 |
102,467,866 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4193:Itga2b
|
UTSW |
11 |
102,469,685 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4770:Itga2b
|
UTSW |
11 |
102,460,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4805:Itga2b
|
UTSW |
11 |
102,467,866 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4880:Itga2b
|
UTSW |
11 |
102,457,722 (GRCm38) |
intron |
probably benign |
|
|
R4906:Itga2b
|
UTSW |
11 |
102,461,159 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5112:Itga2b
|
UTSW |
11 |
102,458,191 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5362:Itga2b
|
UTSW |
11 |
102,461,135 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5739:Itga2b
|
UTSW |
11 |
102,465,909 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5761:Itga2b
|
UTSW |
11 |
102,466,274 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5840:Itga2b
|
UTSW |
11 |
102,461,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5851:Itga2b
|
UTSW |
11 |
102,457,601 (GRCm38) |
intron |
probably benign |
|
|
R6239:Itga2b
|
UTSW |
11 |
102,465,318 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R6491:Itga2b
|
UTSW |
11 |
102,459,869 (GRCm38) |
splice site |
probably null |
|
|
R7426:Itga2b
|
UTSW |
11 |
102,456,294 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7635:Itga2b
|
UTSW |
11 |
102,461,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7664:Itga2b
|
UTSW |
11 |
102,460,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7832:Itga2b
|
UTSW |
11 |
102,457,282 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8120:Itga2b
|
UTSW |
11 |
102,469,542 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8254:Itga2b
|
UTSW |
11 |
102,467,386 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8296:Itga2b
|
UTSW |
11 |
102,461,159 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8362:Itga2b
|
UTSW |
11 |
102,461,363 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8815:Itga2b
|
UTSW |
11 |
102,460,861 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8901:Itga2b
|
UTSW |
11 |
102,460,804 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8985:Itga2b
|
UTSW |
11 |
102,465,462 (GRCm38) |
intron |
probably benign |
|
|
R9277:Itga2b
|
UTSW |
11 |
102,461,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9335:Itga2b
|
UTSW |
11 |
102,455,652 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9496:Itga2b
|
UTSW |
11 |
102,467,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9779:Itga2b
|
UTSW |
11 |
102,457,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Itga2b
|
UTSW |
11 |
102,467,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation