Incidental Mutation 'R6491:Itga2b'
ID |
522887 |
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 |
044623-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R6491 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 102350695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
[ENSMUST00000103086]
[ENSMUST00000103086]
|
AlphaFold |
Q9QUM0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000103086
|
SMART Domains |
Protein: ENSMUSP00000099375 Gene: ENSMUSG00000034664
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 |
probably null
Transcript: ENSMUST00000103086
|
SMART Domains |
Protein: ENSMUSP00000099375 Gene: ENSMUSG00000034664
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 |
probably null
Transcript: ENSMUST00000103086
|
SMART Domains |
Protein: ENSMUSP00000099375 Gene: ENSMUSG00000034664
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: ENSMUST00000151625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174900
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
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 |
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'- CAAACAGGGTTCTAGACATTTGAGC -3'
(R):5'- AGACCCACTCCTTACCTGAG -3'
Sequencing Primer
(F):5'- AGACATTTGAGCCTTTAGCCAGC -3'
(R):5'- TGGCCTAGTCCTAAACCAAGC -3'
|
Posted On |
2018-06-06 |