Incidental Mutation 'R8901:Itga2b'
| ID |
679977 |
| 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 |
068758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R8901 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102351630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 565
(L565Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
| AlphaFold |
Q9QUM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103086
AA Change: L565Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: L565Q
| 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 |
|
| Meta Mutation Damage Score |
0.8517 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprm |
T |
C |
11: 66,932,564 (GRCm39) |
N115S |
probably damaging |
Het |
| Agbl5 |
T |
C |
5: 31,048,435 (GRCm39) |
V169A |
possibly damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,830 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
G |
A |
7: 35,332,243 (GRCm39) |
|
probably benign |
Het |
| Brat1 |
T |
A |
5: 140,698,608 (GRCm39) |
M260K |
probably benign |
Het |
| Btbd6 |
G |
T |
12: 112,940,220 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,394,248 (GRCm39) |
G503S |
probably benign |
Het |
| Ces1e |
C |
T |
8: 93,937,103 (GRCm39) |
D323N |
probably damaging |
Het |
| Chrna5 |
T |
C |
9: 54,911,737 (GRCm39) |
F75S |
probably damaging |
Het |
| Clmn |
A |
T |
12: 104,747,211 (GRCm39) |
S779T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,637,156 (GRCm39) |
M1011K |
probably benign |
Het |
| Col11a2 |
A |
T |
17: 34,262,254 (GRCm39) |
I164F |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,183,643 (GRCm39) |
K231T |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,365,715 (GRCm39) |
M2637R |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Eea1 |
T |
G |
10: 95,825,431 (GRCm39) |
I42R |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,932,805 (GRCm39) |
I207N |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,701,851 (GRCm39) |
T320A |
probably benign |
Het |
| Fhdc1 |
T |
A |
3: 84,352,874 (GRCm39) |
M784L |
probably benign |
Het |
| Gm21411 |
G |
A |
4: 146,982,171 (GRCm39) |
Q10* |
probably null |
Het |
| Gnao1 |
T |
C |
8: 94,694,687 (GRCm39) |
M70T |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,324,389 (GRCm39) |
F25S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,498,252 (GRCm39) |
D220E |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,801,809 (GRCm39) |
L339R |
probably damaging |
Het |
| Impg2 |
A |
T |
16: 56,072,528 (GRCm39) |
D320V |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,457,561 (GRCm39) |
Q67L |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,043 (GRCm39) |
F99S |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,063,030 (GRCm39) |
L214Q |
probably damaging |
Het |
| Lix1l |
C |
A |
3: 96,508,745 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
C |
T |
1: 162,373,814 (GRCm39) |
V95I |
possibly damaging |
Het |
| Nod2 |
C |
T |
8: 89,390,437 (GRCm39) |
T226M |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,685 (GRCm39) |
W1090R |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,035 (GRCm39) |
D19V |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,332,400 (GRCm39) |
V481F |
|
Het |
| Polr1b |
T |
A |
2: 128,967,595 (GRCm39) |
V996E |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,991,141 (GRCm39) |
R1027W |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,343,677 (GRCm39) |
I326F |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,305 (GRCm39) |
D298G |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Scn3a |
C |
T |
2: 65,352,252 (GRCm39) |
V353M |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,299,114 (GRCm39) |
|
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,646,799 (GRCm39) |
V19A |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,624,939 (GRCm39) |
S29P |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,737,975 (GRCm39) |
F508L |
possibly damaging |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,948,028 (GRCm39) |
R291L |
probably damaging |
Het |
| Tas2r114 |
T |
A |
6: 131,666,914 (GRCm39) |
N38I |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,557,184 (GRCm39) |
N948K |
probably damaging |
Het |
| Tmem115 |
A |
G |
9: 107,411,993 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,818,146 (GRCm39) |
D175N |
probably benign |
Het |
| Txk |
T |
A |
5: 72,858,050 (GRCm39) |
Y398F |
probably damaging |
Het |
| Wdr36 |
C |
A |
18: 32,980,013 (GRCm39) |
T246K |
probably damaging |
Het |
| Wdr43 |
A |
T |
17: 71,932,461 (GRCm39) |
R113S |
probably benign |
Het |
| Ybx1 |
T |
C |
4: 119,138,785 (GRCm39) |
Y239C |
probably 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 |
|
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'- AATTGGGCTCAGCTTGTCCC -3'
(R):5'- CATTCCTCAGAAGCTGCGTG -3'
Sequencing Primer
(F):5'- TCAGCTTGTCCCGGAAGTC -3'
(R):5'- TCAGAAGCTGCGTGAGTGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation