Incidental Mutation 'R4805:Itga2b'
ID |
370639 |
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 |
041999-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R4805 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102344123-102360709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102358692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 75
(N75S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103086]
|
AlphaFold |
Q9QUM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103086
AA Change: N75S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099375 Gene: ENSMUSG00000034664 AA Change: N75S
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: ENSMUST00000130757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149519
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
99% (69/70) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,950,628 (GRCm39) |
Y1508* |
probably null |
Het |
4931414P19Rik |
T |
C |
14: 54,832,911 (GRCm39) |
E88G |
probably benign |
Het |
Acaa1b |
A |
G |
9: 118,986,014 (GRCm39) |
S17P |
probably benign |
Het |
Arhgef7 |
G |
A |
8: 11,881,552 (GRCm39) |
E565K |
probably damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bpnt1 |
T |
A |
1: 185,077,504 (GRCm39) |
|
probably null |
Het |
Ccnt1 |
C |
T |
15: 98,442,189 (GRCm39) |
V360I |
probably benign |
Het |
Chd4 |
T |
C |
6: 125,105,908 (GRCm39) |
S1829P |
possibly damaging |
Het |
Dennd1b |
A |
T |
1: 138,981,122 (GRCm39) |
N112I |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,174,805 (GRCm39) |
D1969E |
probably benign |
Het |
Flywch1 |
A |
C |
17: 23,979,591 (GRCm39) |
D394E |
probably benign |
Het |
Gal3st4 |
T |
A |
5: 138,263,733 (GRCm39) |
|
probably null |
Het |
Gm14403 |
T |
C |
2: 177,200,492 (GRCm39) |
L146P |
probably damaging |
Het |
Gm5283 |
G |
T |
3: 17,285,123 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
A |
1: 165,134,029 (GRCm39) |
L97Q |
probably damaging |
Het |
Gstm2 |
A |
T |
3: 107,892,411 (GRCm39) |
M105K |
possibly damaging |
Het |
Hecw2 |
A |
G |
1: 53,880,018 (GRCm39) |
Y1264H |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,308,952 (GRCm39) |
Q348L |
possibly damaging |
Het |
Ighv1-83 |
A |
T |
12: 115,927,489 (GRCm39) |
M87K |
possibly damaging |
Het |
Ighv2-7 |
A |
T |
12: 113,771,154 (GRCm39) |
S44T |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,650,691 (GRCm39) |
N884K |
probably benign |
Het |
Krt20 |
A |
G |
11: 99,319,811 (GRCm39) |
V431A |
unknown |
Het |
Krt24 |
A |
T |
11: 99,174,452 (GRCm39) |
I205N |
possibly damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc31 |
A |
T |
3: 30,745,446 (GRCm39) |
L67* |
probably null |
Het |
Lrrc37a |
A |
G |
11: 103,395,135 (GRCm39) |
F97L |
probably benign |
Het |
Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
Mgat4d |
T |
G |
8: 84,084,787 (GRCm39) |
|
probably null |
Het |
Mrgprb3 |
C |
T |
7: 48,293,054 (GRCm39) |
V166I |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,052,329 (GRCm39) |
Q379L |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,222,590 (GRCm39) |
S782G |
probably benign |
Het |
Nobox |
T |
C |
6: 43,282,053 (GRCm39) |
D340G |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
Or2t29 |
G |
A |
11: 58,433,396 (GRCm39) |
T315I |
probably benign |
Het |
Or5b101 |
T |
A |
19: 13,005,661 (GRCm39) |
I11F |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,307,959 (GRCm39) |
I1845N |
probably damaging |
Het |
Pramel15 |
A |
G |
4: 144,103,590 (GRCm39) |
Y179H |
probably benign |
Het |
Rad21l |
T |
G |
2: 151,509,927 (GRCm39) |
H58P |
probably damaging |
Het |
Scnn1g |
T |
C |
7: 121,345,825 (GRCm39) |
L316S |
probably damaging |
Het |
Serpina5 |
G |
A |
12: 104,068,460 (GRCm39) |
V174I |
probably damaging |
Het |
Shank1 |
T |
C |
7: 43,993,135 (GRCm39) |
S788P |
unknown |
Het |
Shisal1 |
T |
A |
15: 84,301,397 (GRCm39) |
H82L |
probably damaging |
Het |
Snap47 |
A |
G |
11: 59,319,343 (GRCm39) |
V265A |
possibly damaging |
Het |
Steap3 |
T |
A |
1: 120,171,616 (GRCm39) |
H163L |
probably benign |
Het |
Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
Tet2 |
A |
G |
3: 133,173,076 (GRCm39) |
F1729L |
probably benign |
Het |
Thsd7b |
T |
C |
1: 130,116,276 (GRCm39) |
V1343A |
probably benign |
Het |
Thumpd2 |
G |
A |
17: 81,334,130 (GRCm39) |
T486I |
probably damaging |
Het |
Ttc41 |
G |
T |
10: 86,565,662 (GRCm39) |
M405I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,577,873 (GRCm39) |
D24340G |
probably damaging |
Het |
Vmn1r10 |
T |
G |
6: 57,090,602 (GRCm39) |
F65V |
possibly damaging |
Het |
Vmn2r118 |
G |
T |
17: 55,899,581 (GRCm39) |
D774E |
probably damaging |
Het |
Vmn2r13 |
C |
T |
5: 109,304,331 (GRCm39) |
C700Y |
probably damaging |
Het |
Wsb1 |
A |
C |
11: 79,131,217 (GRCm39) |
M393R |
possibly damaging |
Het |
Zmat3 |
A |
G |
3: 32,397,504 (GRCm39) |
Y214H |
probably benign |
Het |
Zswim3 |
C |
T |
2: 164,662,099 (GRCm39) |
T193I |
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 |
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 |
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'- GGAAGCCTAGGTTTCGTGTC -3'
(R):5'- TCCACTTTCAGCTAAAATGAAGAGG -3'
Sequencing Primer
(F):5'- GAAGCCTAGGTTTCGTGTCTCATC -3'
(R):5'- TCAGCTAAAATGAAGAGGTTGTCC -3'
|
Posted On |
2016-02-04 |