Incidental Mutation 'R9496:Itga2b'
| ID |
717232 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R9496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102358629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 96
(C96Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
| AlphaFold |
Q9QUM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103086
AA Change: C96Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: C96Y
| 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: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
A |
T |
19: 6,310,022 (GRCm39) |
Q1735L |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,040,453 (GRCm39) |
D958G |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,356,711 (GRCm39) |
F142L |
probably benign |
Het |
| Calcoco1 |
C |
T |
15: 102,619,876 (GRCm39) |
A303T |
probably benign |
Het |
| Chat |
C |
A |
14: 32,148,119 (GRCm39) |
C306F |
probably benign |
Het |
| Ciita |
T |
G |
16: 10,298,009 (GRCm39) |
M1R |
probably null |
Het |
| Ckap2l |
A |
C |
2: 129,112,595 (GRCm39) |
S638A |
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,983,337 (GRCm39) |
G397D |
probably benign |
Het |
| Cyb5r2 |
A |
G |
7: 107,353,954 (GRCm39) |
V72A |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,271,164 (GRCm39) |
T314A |
probably benign |
Het |
| Dcun1d4 |
T |
G |
5: 73,668,272 (GRCm39) |
H37Q |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,460 (GRCm39) |
Y744H |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,004,885 (GRCm39) |
N916S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,855,853 (GRCm39) |
K1287E |
unknown |
Het |
| Epo |
C |
T |
5: 137,482,401 (GRCm39) |
V89I |
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,397,291 (GRCm39) |
I3N |
probably benign |
Het |
| Fcgr3 |
A |
C |
1: 170,879,386 (GRCm39) |
Y219D |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,809,253 (GRCm39) |
C672* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,793,062 (GRCm39) |
R406S |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,764,425 (GRCm39) |
V1242A |
probably benign |
Het |
| Gm10577 |
C |
T |
4: 100,877,745 (GRCm39) |
C50Y |
unknown |
Het |
| Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,571 (GRCm39) |
L826P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,971 (GRCm39) |
D1922G |
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,106,984 (GRCm39) |
I670N |
probably benign |
Het |
| Lypla1 |
A |
T |
1: 4,898,813 (GRCm39) |
|
probably benign |
Het |
| Mettl16 |
T |
C |
11: 74,707,696 (GRCm39) |
S337P |
possibly damaging |
Het |
| Myh11 |
G |
A |
16: 14,048,616 (GRCm39) |
Q564* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,193,840 (GRCm39) |
F529L |
probably benign |
Het |
| Nell2 |
T |
G |
15: 95,194,097 (GRCm39) |
I539L |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,502 (GRCm39) |
V646E |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,102,762 (GRCm39) |
T289A |
|
Het |
| Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,890,505 (GRCm39) |
L18P |
unknown |
Het |
| Pkd1l1 |
C |
A |
11: 8,783,773 (GRCm39) |
|
probably null |
Het |
| Pum1 |
T |
C |
4: 130,446,664 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
A |
T |
17: 26,055,371 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,975,425 (GRCm39) |
L305I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,312,493 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
G |
T |
19: 58,963,457 (GRCm39) |
S619R |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,205,202 (GRCm39) |
|
probably null |
Het |
| Tepsin |
A |
G |
11: 119,982,357 (GRCm39) |
L571S |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,258,856 (GRCm39) |
D10G |
probably benign |
Het |
| Usp39 |
A |
G |
6: 72,302,759 (GRCm39) |
Y432H |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,227 (GRCm39) |
V205D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,122 (GRCm39) |
V757A |
probably benign |
Het |
| Zc2hc1b |
A |
T |
10: 13,044,540 (GRCm39) |
F41Y |
probably damaging |
Het |
| Zfp1007 |
A |
G |
5: 109,823,924 (GRCm39) |
S509P |
probably damaging |
Het |
| Zfp114 |
A |
T |
7: 23,880,463 (GRCm39) |
S271C |
possibly damaging |
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 |
|
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 |
|
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'- AATGACGTCATTCCAGCTGAC -3'
(R):5'- TCTGTGAGGAAAGGTGGTCC -3'
Sequencing Primer
(F):5'- TCATTCCAGCTGACGACCG -3'
(R):5'- AAAGGTGGTCCAGTTTTTCCTATGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation