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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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