Incidental Mutation 'R8254:Itga2b'
| ID |
640659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga2b
|
| Ensembl Gene |
ENSMUSG00000034664 |
| Gene Name |
integrin alpha 2b |
| Synonyms |
CD41, GpIIb, platelet glycoprotein IIb, alphaIIb, GP IIb |
| MMRRC Submission |
067680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R8254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 102358212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 171
(R171L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
| AlphaFold |
Q9QUM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103086
AA Change: R171L
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: R171L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,538,153 (GRCm39) |
S100P |
probably damaging |
Het |
| Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
| Fam3c |
T |
A |
6: 22,328,675 (GRCm39) |
T71S |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
| Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
| Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
| Haspin |
A |
T |
11: 73,027,572 (GRCm39) |
Y506N |
probably benign |
Het |
| Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
| Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
| Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
| Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
| Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
| Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,242 (GRCm39) |
Y191H |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
| Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,325,809 (GRCm39) |
N461S |
probably benign |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,440,264 (GRCm39) |
Q96L |
probably damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
| Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
probably benign |
Het |
|
| Other mutations in Itga2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Itga2b
|
APN |
11 |
102,346,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTGCGCTTAAGCCAAGAG -3'
(R):5'- GTGGGTACTGTGGACAAGTC -3'
Sequencing Primer
(F):5'- ACTATGCAGAGCCCGGAG -3'
(R):5'- TACTGTGGACAAGTCAAAGGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation