Incidental Mutation 'R1517:Itga2b'
| ID |
167116 |
| 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 |
039563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 102357151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 243
(L243*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
| AlphaFold |
Q9QUM0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000103086
AA Change: L243*
|
| SMART Domains |
Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: L243*
| 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: ENSMUST00000130757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149519
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,862,640 (GRCm39) |
K375R |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,311,871 (GRCm39) |
N318S |
probably damaging |
Het |
| Akap5 |
A |
C |
12: 76,376,036 (GRCm39) |
E489D |
possibly damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,665,133 (GRCm39) |
I385F |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,407,146 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,487,374 (GRCm39) |
T1314S |
probably damaging |
Het |
| Bhmt2 |
C |
A |
13: 93,798,847 (GRCm39) |
G325C |
probably damaging |
Het |
| Brpf1 |
T |
A |
6: 113,296,050 (GRCm39) |
V781E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,720 (GRCm39) |
Y1860F |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,788,162 (GRCm39) |
T56A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,937,027 (GRCm39) |
S560P |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,469,841 (GRCm39) |
T1343I |
probably benign |
Het |
| Coq10b |
T |
C |
1: 55,103,416 (GRCm39) |
S65P |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,745 (GRCm39) |
C243S |
probably damaging |
Het |
| Cst12 |
A |
T |
2: 148,635,172 (GRCm39) |
I121F |
possibly damaging |
Het |
| Cyp26a1 |
A |
C |
19: 37,687,308 (GRCm39) |
E165A |
probably benign |
Het |
| Cyp2d12 |
T |
G |
15: 82,442,337 (GRCm39) |
M273R |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,657 (GRCm39) |
S227C |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,476,379 (GRCm39) |
Q390L |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,970 (GRCm39) |
L351* |
probably null |
Het |
| Fga |
T |
C |
3: 82,939,145 (GRCm39) |
S507P |
probably benign |
Het |
| Gba1 |
A |
T |
3: 89,113,455 (GRCm39) |
Y239F |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,195,996 (GRCm39) |
Y843* |
probably null |
Het |
| Gria4 |
C |
A |
9: 4,793,865 (GRCm39) |
L64F |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,860,191 (GRCm39) |
Y803C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,545,172 (GRCm39) |
K2812E |
probably damaging |
Het |
| Il17b |
T |
G |
18: 61,823,316 (GRCm39) |
V50G |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,667,266 (GRCm39) |
V394L |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,711 (GRCm39) |
D65E |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,136,090 (GRCm39) |
Y696H |
probably damaging |
Het |
| Kctd19 |
C |
A |
8: 106,122,008 (GRCm39) |
D180Y |
probably damaging |
Het |
| Klra8 |
A |
C |
6: 130,092,603 (GRCm39) |
S233A |
probably benign |
Het |
| Masp2 |
A |
T |
4: 148,696,563 (GRCm39) |
T387S |
possibly damaging |
Het |
| Midn |
C |
A |
10: 79,989,957 (GRCm39) |
T275N |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,587 (GRCm39) |
F965L |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,287,445 (GRCm39) |
V186L |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,235,281 (GRCm39) |
N884I |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,581,016 (GRCm39) |
I221T |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,502 (GRCm39) |
C97* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,948 (GRCm39) |
T75S |
probably damaging |
Het |
| Osr2 |
T |
C |
15: 35,300,813 (GRCm39) |
V123A |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,008,471 (GRCm39) |
H226R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,151 (GRCm39) |
V37E |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,622,673 (GRCm39) |
M1K |
probably null |
Het |
| Pcsk1 |
T |
A |
13: 75,246,166 (GRCm39) |
Y181* |
probably null |
Het |
| Pros1 |
G |
T |
16: 62,705,875 (GRCm39) |
C63F |
probably damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,065,081 (GRCm39) |
C353* |
probably null |
Het |
| Rev3l |
T |
C |
10: 39,714,439 (GRCm39) |
Y2388H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl12-ps1 |
G |
T |
1: 36,997,458 (GRCm39) |
|
noncoding transcript |
Het |
| Rttn |
T |
C |
18: 89,131,474 (GRCm39) |
V1951A |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,335,371 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,244,987 (GRCm39) |
R71Q |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,715,842 (GRCm39) |
F101L |
probably benign |
Het |
| Snrpd1 |
T |
C |
18: 10,626,913 (GRCm39) |
I60T |
probably damaging |
Het |
| Sox10 |
T |
A |
15: 79,043,378 (GRCm39) |
E218D |
probably benign |
Het |
| Tekt3 |
C |
A |
11: 62,961,316 (GRCm39) |
H162N |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,575,564 (GRCm39) |
S246G |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,183,346 (GRCm39) |
I214N |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,708,003 (GRCm39) |
D566E |
probably damaging |
Het |
| Uck2 |
T |
C |
1: 167,062,293 (GRCm39) |
D156G |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,225 (GRCm39) |
S314R |
possibly damaging |
Het |
| Zfp467 |
C |
T |
6: 48,415,170 (GRCm39) |
R494H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,470 (GRCm39) |
D138V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,298,925 (GRCm39) |
E445G |
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 |
|
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'- TCACTAGAATCCACAGCGAGAAGGG -3'
(R):5'- AATAGGAGAGACCGTCTCACGACC -3'
Sequencing Primer
(F):5'- CCAGTGTGGATGGGAAGTG -3'
(R):5'- ACGACCAGGACTTCTTTTTCAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation