Incidental Mutation 'R0403:Itga2b'
ID 35723
Institutional Source Beutler Lab
Gene Symbol Itga2b
Ensembl Gene ENSMUSG00000034664
Gene Name integrin alpha 2b
Synonyms platelet glycoprotein IIb, GpIIb, alphaIIb, GP IIb, CD41
MMRRC Submission 038608-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R0403 (G1)
Quality Score 166
Status Validated
Chromosome 11
Chromosomal Location 102453297-102470122 bp(-) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 102467326 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103086]
AlphaFold Q9QUM0
Predicted Effect probably null
Transcript: ENSMUST00000103086
SMART Domains Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664

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 0.9373 question?
Coding Region Coverage
  • 1x: 98.0%
  • 3x: 96.8%
  • 10x: 93.2%
  • 20x: 83.7%
Validation Efficiency 97% (110/113)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,973,880 (GRCm38) probably null Het
Adgrg3 C T 8: 95,036,922 (GRCm38) L284F probably benign Het
Alkbh8 T A 9: 3,385,469 (GRCm38) V587E probably damaging Het
Ap4b1 T A 3: 103,818,839 (GRCm38) C244S probably damaging Het
Ap4b1 T A 3: 103,821,396 (GRCm38) M590K probably benign Het
Arhgap15 C T 2: 44,063,766 (GRCm38) T168I probably damaging Het
Arntl2 T A 6: 146,822,655 (GRCm38) H348Q probably damaging Het
Atp8b1 A G 18: 64,540,310 (GRCm38) V997A probably damaging Het
Atrn G A 2: 130,906,859 (GRCm38) C100Y probably damaging Het
Baiap2l2 C A 15: 79,271,216 (GRCm38) A151S probably benign Het
Baz2b A T 2: 59,969,377 (GRCm38) D199E possibly damaging Het
Cblb A G 16: 52,152,626 (GRCm38) D440G probably benign Het
Cdon T C 9: 35,473,500 (GRCm38) V694A probably benign Het
Cep250 A T 2: 155,992,349 (GRCm38) R2065W probably damaging Het
Ces2b G T 8: 104,833,945 (GRCm38) A131S probably damaging Het
Chrna9 A T 5: 65,967,892 (GRCm38) T59S possibly damaging Het
Cog3 T A 14: 75,742,327 (GRCm38) probably benign Het
Cpa1 G A 6: 30,641,857 (GRCm38) V227I probably benign Het
Cyp3a25 A T 5: 145,998,513 (GRCm38) C98S probably damaging Het
D8Ertd738e C T 8: 84,249,601 (GRCm38) probably null Het
Ddx60 A G 8: 61,994,541 (GRCm38) probably benign Het
Dhx16 T C 17: 35,883,050 (GRCm38) probably null Het
Dnah9 T A 11: 66,084,789 (GRCm38) Q1478L possibly damaging Het
Dock10 T C 1: 80,524,070 (GRCm38) Y1434C possibly damaging Het
Enpp3 T A 10: 24,804,436 (GRCm38) D325V probably damaging Het
Entpd6 C A 2: 150,760,170 (GRCm38) T194K possibly damaging Het
Fam208b A T 13: 3,582,052 (GRCm38) Y816* probably null Het
Fat2 A T 11: 55,270,349 (GRCm38) V3185E probably benign Het
Flrt1 A G 19: 7,095,919 (GRCm38) L421P probably benign Het
Fmn2 A T 1: 174,694,278 (GRCm38) Q1292L probably damaging Het
Fndc1 T C 17: 7,753,723 (GRCm38) D1459G probably damaging Het
Fndc1 T C 17: 7,775,588 (GRCm38) probably null Het
Fzr1 A G 10: 81,369,368 (GRCm38) S265P possibly damaging Het
Gm13119 A G 4: 144,362,646 (GRCm38) N178S probably benign Het
Gm14085 T C 2: 122,521,854 (GRCm38) L364S probably damaging Het
Gpr142 G A 11: 114,806,029 (GRCm38) V134M probably damaging Het
Grid2ip G T 5: 143,357,620 (GRCm38) V24L possibly damaging Het
Herc2 G A 7: 56,159,417 (GRCm38) R2555H probably damaging Het
Hpdl A T 4: 116,820,479 (GRCm38) Y262N possibly damaging Het
Htr3a A G 9: 48,908,659 (GRCm38) V57A probably damaging Het
Igfbp7 T C 5: 77,355,591 (GRCm38) I186V probably benign Het
Itgae A C 11: 73,123,183 (GRCm38) D736A possibly damaging Het
Itpkc T A 7: 27,208,345 (GRCm38) M645L probably benign Het
Jchain T C 5: 88,521,378 (GRCm38) R139G probably benign Het
Kif13a A G 13: 46,791,401 (GRCm38) V908A probably damaging Het
Kif1b T A 4: 149,181,967 (GRCm38) K389* probably null Het
Klhl12 T C 1: 134,485,856 (GRCm38) Y360H possibly damaging Het
Knop1 G A 7: 118,853,053 (GRCm38) R148W probably damaging Het
Lpar1 T A 4: 58,487,191 (GRCm38) N27Y probably damaging Het
Lpar2 T A 8: 69,824,152 (GRCm38) V197D probably damaging Het
Lrrc74a A G 12: 86,740,979 (GRCm38) N128S probably damaging Het
Lum G T 10: 97,572,043 (GRCm38) V337F probably benign Het
Mag T C 7: 30,906,980 (GRCm38) D344G probably damaging Het
Maip1 G A 1: 57,407,196 (GRCm38) A142T probably benign Het
Mlh3 A G 12: 85,268,968 (GRCm38) V148A possibly damaging Het
Nav3 A G 10: 109,767,103 (GRCm38) V1195A probably damaging Het
Ncor2 A G 5: 125,033,337 (GRCm38) S868P possibly damaging Het
Nek1 A G 8: 61,106,855 (GRCm38) E907G probably damaging Het
Nfam1 G A 15: 83,016,379 (GRCm38) T134I probably benign Het
Nr0b2 T C 4: 133,553,759 (GRCm38) V112A probably damaging Het
Nrp1 A G 8: 128,457,969 (GRCm38) N365S probably damaging Het
Nrsn2 T C 2: 152,369,790 (GRCm38) Y107C probably damaging Het
Ntng1 G A 3: 109,934,611 (GRCm38) A282V probably damaging Het
Nxf1 T C 19: 8,765,028 (GRCm38) I337T probably damaging Het
Obscn C T 11: 59,076,540 (GRCm38) G479D probably damaging Het
Olfr45 T C 7: 140,691,309 (GRCm38) S135P possibly damaging Het
Oprd1 T A 4: 132,113,768 (GRCm38) D293V probably benign Het
P3h2 T G 16: 25,969,950 (GRCm38) N586H possibly damaging Het
Pcid2 T C 8: 13,085,367 (GRCm38) Y214C probably damaging Het
Pkd1l3 C G 8: 109,623,649 (GRCm38) D375E possibly damaging Het
Pkd1l3 G A 8: 109,623,663 (GRCm38) S380N probably benign Het
Ppic C A 18: 53,411,071 (GRCm38) G81W probably damaging Het
Ppp2r1a C A 17: 20,957,041 (GRCm38) P246T probably damaging Het
Ppp4r4 T G 12: 103,584,102 (GRCm38) S46A probably benign Het
Prkce A G 17: 86,168,653 (GRCm38) T21A probably damaging Het
Prkg2 T C 5: 98,994,645 (GRCm38) E210G possibly damaging Het
Prss35 A G 9: 86,756,037 (GRCm38) M287V probably damaging Het
Psd G A 19: 46,320,972 (GRCm38) probably benign Het
Ptch2 A T 4: 117,110,839 (GRCm38) K843* probably null Het
Rab44 C A 17: 29,145,261 (GRCm38) T603K probably damaging Het
Rasal3 T A 17: 32,392,790 (GRCm38) probably null Het
Rbbp6 A G 7: 122,992,296 (GRCm38) T526A probably damaging Het
Ros1 A T 10: 52,143,438 (GRCm38) probably benign Het
Sec24b A G 3: 129,999,534 (GRCm38) S685P probably damaging Het
Sec24b T A 3: 129,989,676 (GRCm38) L1104F possibly damaging Het
Sema6a G A 18: 47,290,045 (GRCm38) probably null Het
Setmar A T 6: 108,075,962 (GRCm38) H139L probably benign Het
Slc4a7 T C 14: 14,766,808 (GRCm38) V710A probably benign Het
Smarcc1 T A 9: 110,237,808 (GRCm38) probably null Het
Smchd1 G A 17: 71,394,902 (GRCm38) L1032F probably damaging Het
Speg T C 1: 75,430,784 (GRCm38) probably benign Het
Tcea1 C G 1: 4,889,503 (GRCm38) R134G probably benign Het
Tchhl1 C T 3: 93,471,029 (GRCm38) Q347* probably null Het
Tecrl A T 5: 83,354,758 (GRCm38) probably benign Het
Tepsin T C 11: 120,093,682 (GRCm38) probably benign Het
Tmem40 G A 6: 115,733,985 (GRCm38) probably benign Het
Tpr G A 1: 150,407,414 (GRCm38) probably benign Het
Ttll12 A T 15: 83,580,658 (GRCm38) probably benign Het
Ttn T A 2: 76,909,608 (GRCm38) D3529V probably benign Het
Usp34 T A 11: 23,333,838 (GRCm38) H177Q possibly damaging Het
Vsig10 T A 5: 117,338,461 (GRCm38) S327T probably benign Het
Zbtb4 T A 11: 69,777,639 (GRCm38) M396K probably damaging Het
Zfp352 C T 4: 90,225,009 (GRCm38) T462I possibly damaging Het
Zfp385b T C 2: 77,476,845 (GRCm38) M145V probably damaging Het
Zfp780b C A 7: 27,971,689 (GRCm38) V65F possibly damaging Het
Other mutations in Itga2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Itga2b APN 11 102,455,583 (GRCm38) missense probably damaging 1.00
IGL02197:Itga2b APN 11 102,466,319 (GRCm38) missense probably benign 0.19
IGL02349:Itga2b APN 11 102,461,363 (GRCm38) missense probably damaging 0.98
IGL02711:Itga2b APN 11 102,465,725 (GRCm38) missense possibly damaging 0.53
R0282:Itga2b UTSW 11 102,460,846 (GRCm38) missense probably damaging 0.99
R0349:Itga2b UTSW 11 102,467,426 (GRCm38) missense probably damaging 0.98
R0384:Itga2b UTSW 11 102,465,362 (GRCm38) splice site probably null
R0452:Itga2b UTSW 11 102,465,953 (GRCm38) splice site probably null
R0535:Itga2b UTSW 11 102,457,533 (GRCm38) missense possibly damaging 0.65
R1412:Itga2b UTSW 11 102,457,005 (GRCm38) missense probably benign 0.00
R1517:Itga2b UTSW 11 102,466,325 (GRCm38) nonsense probably null
R1615:Itga2b UTSW 11 102,460,137 (GRCm38) critical splice donor site probably null
R1716:Itga2b UTSW 11 102,460,777 (GRCm38) missense probably benign 0.30
R1953:Itga2b UTSW 11 102,458,183 (GRCm38) missense probably benign 0.18
R2001:Itga2b UTSW 11 102,467,339 (GRCm38) missense probably benign
R2216:Itga2b UTSW 11 102,467,866 (GRCm38) missense probably benign 0.35
R4193:Itga2b UTSW 11 102,469,685 (GRCm38) missense probably benign 0.01
R4770:Itga2b UTSW 11 102,460,756 (GRCm38) missense probably damaging 1.00
R4805:Itga2b UTSW 11 102,467,866 (GRCm38) missense probably benign 0.00
R4880:Itga2b UTSW 11 102,457,722 (GRCm38) intron probably benign
R4906:Itga2b UTSW 11 102,461,159 (GRCm38) missense probably benign 0.43
R5112:Itga2b UTSW 11 102,458,191 (GRCm38) missense probably damaging 0.99
R5362:Itga2b UTSW 11 102,461,135 (GRCm38) missense probably damaging 0.99
R5739:Itga2b UTSW 11 102,465,909 (GRCm38) missense probably benign 0.14
R5761:Itga2b UTSW 11 102,466,274 (GRCm38) missense probably benign 0.00
R5840:Itga2b UTSW 11 102,461,331 (GRCm38) missense probably damaging 1.00
R5851:Itga2b UTSW 11 102,457,601 (GRCm38) intron probably benign
R6239:Itga2b UTSW 11 102,465,318 (GRCm38) missense possibly damaging 0.61
R6491:Itga2b UTSW 11 102,459,869 (GRCm38) splice site probably null
R7426:Itga2b UTSW 11 102,456,294 (GRCm38) missense probably benign 0.01
R7635:Itga2b UTSW 11 102,461,756 (GRCm38) missense probably damaging 1.00
R7664:Itga2b UTSW 11 102,460,840 (GRCm38) missense probably damaging 1.00
R7832:Itga2b UTSW 11 102,457,282 (GRCm38) missense probably damaging 0.98
R8120:Itga2b UTSW 11 102,469,542 (GRCm38) missense probably damaging 0.98
R8254:Itga2b UTSW 11 102,467,386 (GRCm38) missense probably benign 0.16
R8296:Itga2b UTSW 11 102,461,159 (GRCm38) missense possibly damaging 0.79
R8362:Itga2b UTSW 11 102,461,363 (GRCm38) missense probably damaging 1.00
R8815:Itga2b UTSW 11 102,460,861 (GRCm38) missense possibly damaging 0.91
R8901:Itga2b UTSW 11 102,460,804 (GRCm38) missense probably damaging 0.99
R8985:Itga2b UTSW 11 102,465,462 (GRCm38) intron probably benign
R9277:Itga2b UTSW 11 102,461,156 (GRCm38) missense probably damaging 1.00
R9335:Itga2b UTSW 11 102,455,652 (GRCm38) missense probably damaging 0.99
R9496:Itga2b UTSW 11 102,467,803 (GRCm38) missense probably damaging 1.00
R9779:Itga2b UTSW 11 102,457,321 (GRCm38) missense probably damaging 1.00
Z1177:Itga2b UTSW 11 102,467,076 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGCTTCACAGTATCGCTTG -3'
(R):5'- GCAGCACTGGAATGTCCTGGAAAAG -3'

Sequencing Primer
(F):5'- GCTTGTCTCCGCCTACAAGAG -3'
(R):5'- TCCTGGAAAAGCGCGATG -3'
Posted On 2013-05-09