Incidental Mutation 'R1412:Itga2b'
ID |
159645 |
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 |
039468-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R1412 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102347831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 890
(L890Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
AlphaFold |
Q9QUM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103086
AA Change: L890Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000099375 Gene: ENSMUSG00000034664 AA Change: L890Q
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: ENSMUST00000124767
|
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: ENSMUST00000174900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151625
|
Meta Mutation Damage Score |
0.1073 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
Validation Efficiency |
98% (48/49) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
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 |
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 |
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'- TTGCCCAACAGTCCAGGGATACAG -3'
(R):5'- ACAGCCATCTCCCAAGGTAAGGTTC -3'
Sequencing Primer
(F):5'- agacagagagagacagagagac -3'
(R):5'- CCCAAGGTAAGGTTCTGGGAG -3'
|
Posted On |
2014-03-14 |