Incidental Mutation 'R9277:Itga2b'
| ID |
703387 |
| 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 # |
R9277 (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 G
at 102351982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 505
(L505P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
| AlphaFold |
Q9QUM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103086
AA Change: L505P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: L505P
| 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: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,347 (GRCm39) |
Y237C |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,521,561 (GRCm39) |
S566G |
probably benign |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,061,183 (GRCm39) |
I3222F |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,042,222 (GRCm39) |
D420G |
probably benign |
Het |
| Cela1 |
C |
A |
15: 100,580,894 (GRCm39) |
A121S |
possibly damaging |
Het |
| Clip2 |
A |
G |
5: 134,528,963 (GRCm39) |
M822T |
probably benign |
Het |
| Coq8a |
G |
A |
1: 180,006,776 (GRCm39) |
T84I |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,877,527 (GRCm39) |
A390V |
probably benign |
Het |
| Dhx40 |
C |
T |
11: 86,661,056 (GRCm39) |
M744I |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,689 (GRCm39) |
I204V |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,750,855 (GRCm39) |
F322V |
probably damaging |
Het |
| Eif4g2 |
G |
A |
7: 110,674,066 (GRCm39) |
A646V |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,097 (GRCm39) |
T91A |
probably benign |
Het |
| Fancl |
A |
T |
11: 26,418,847 (GRCm39) |
I290F |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,245 (GRCm39) |
Y253N |
possibly damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,565 (GRCm39) |
R880L |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,417,402 (GRCm39) |
S2036T |
probably damaging |
Het |
| Gm10330 |
A |
T |
12: 23,829,911 (GRCm39) |
V90E |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,914,255 (GRCm39) |
E488G |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,148,446 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,539 (GRCm39) |
N265S |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,887,520 (GRCm39) |
V2515M |
probably damaging |
Het |
| Klrg2 |
A |
G |
6: 38,613,491 (GRCm39) |
S171P |
probably benign |
Het |
| Lamtor5 |
A |
G |
3: 107,186,404 (GRCm39) |
T58A |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 134,915,217 (GRCm39) |
C787* |
probably null |
Het |
| Madd |
A |
G |
2: 91,006,055 (GRCm39) |
F380S |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,920,234 (GRCm39) |
H127Q |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,872 (GRCm39) |
E362G |
|
Het |
| Morc2b |
C |
T |
17: 33,354,997 (GRCm39) |
G925D |
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,518,523 (GRCm39) |
R1672H |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,493 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Obox5 |
A |
T |
7: 15,491,877 (GRCm39) |
E97D |
probably damaging |
Het |
| Parn |
C |
T |
16: 13,482,519 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
A |
T |
11: 97,613,272 (GRCm39) |
N241K |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,509 (GRCm39) |
V539A |
probably benign |
Het |
| Plpp7 |
A |
T |
2: 31,985,824 (GRCm39) |
M1L |
probably damaging |
Het |
| Pramel43 |
T |
C |
5: 94,762,843 (GRCm39) |
T60A |
probably benign |
Het |
| Pramel44 |
A |
G |
5: 94,771,917 (GRCm39) |
T16A |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,716,929 (GRCm39) |
S90N |
probably benign |
Het |
| Rgs7bp |
G |
A |
13: 105,100,618 (GRCm39) |
T219M |
probably damaging |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,998 (GRCm39) |
D69N |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,379,619 (GRCm39) |
T1145A |
probably damaging |
Het |
| Slc49a3 |
G |
T |
5: 108,589,864 (GRCm39) |
P513T |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,009,165 (GRCm39) |
Q359R |
probably benign |
Het |
| Trmt5 |
C |
A |
12: 73,329,448 (GRCm39) |
D237Y |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,390 (GRCm39) |
I261F |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,322 (GRCm39) |
I292F |
unknown |
Het |
| Vmn2r66 |
T |
C |
7: 84,661,164 (GRCm39) |
D22G |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,196,534 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
T |
A |
14: 79,714,353 (GRCm39) |
D53V |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,241,550 (GRCm39) |
I866V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,254 (GRCm39) |
P975L |
unknown |
Het |
| Zdhhc19 |
G |
A |
16: 32,316,512 (GRCm39) |
R89Q |
probably benign |
Het |
| Zer1 |
G |
A |
2: 30,001,297 (GRCm39) |
T69I |
probably benign |
Het |
| Zfp827 |
C |
T |
8: 79,787,029 (GRCm39) |
T65I |
probably damaging |
Het |
| Zswim9 |
A |
G |
7: 12,994,983 (GRCm39) |
F391S |
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 |
|
R8901:Itga2b
|
UTSW |
11 |
102,351,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8985:Itga2b
|
UTSW |
11 |
102,356,288 (GRCm39) |
intron |
probably benign |
|
|
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'- GATCCAGGTCTCCTTGTAGTGG -3'
(R):5'- GTGTACAGGTGAGCTCTGACTAG -3'
Sequencing Primer
(F):5'- GGGGATACTCAGACCTCCCTTC -3'
(R):5'- CTCTGACTAGGGGGAGGGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation