Incidental Mutation 'R8815:Itga2b'
ID 672690
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 068650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R8815 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102344123-102360709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102351687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 546 (R546L)
Ref Sequence ENSEMBL: ENSMUSP00000099375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103086]
AlphaFold Q9QUM0
Predicted Effect possibly damaging
Transcript: ENSMUST00000103086
AA Change: R546L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: R546L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,943 (GRCm39) Q106H probably damaging Het
Acad9 T C 3: 36,139,590 (GRCm39) C397R probably damaging Het
Ankfn1 T G 11: 89,282,602 (GRCm39) R348S probably damaging Het
Ankrd61 A G 5: 143,831,336 (GRCm39) C28R probably benign Het
Ano5 C T 7: 51,194,548 (GRCm39) R94* probably null Het
Apela A T 8: 65,489,590 (GRCm39) F10I unknown Het
Arhgap31 T C 16: 38,429,790 (GRCm39) S362G probably benign Het
Arhgef18 C A 8: 3,430,410 (GRCm39) H94Q probably benign Het
Astn2 A T 4: 65,830,834 (GRCm39) L585Q possibly damaging Het
Atf3 G T 1: 190,909,564 (GRCm39) A35D probably benign Het
Atp10b A T 11: 43,093,978 (GRCm39) R507S possibly damaging Het
Brip1 A C 11: 86,080,598 (GRCm39) V156G probably benign Het
Ccdc27 T A 4: 154,111,205 (GRCm39) M636L probably benign Het
Ceacam5 T A 7: 17,493,285 (GRCm39) N769K possibly damaging Het
Cklf C T 8: 104,977,560 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,870,546 (GRCm39) V474M probably damaging Het
Dip2c T A 13: 9,673,834 (GRCm39) C1091* probably null Het
Eef1akmt4 T A 16: 20,437,288 (GRCm39) I210N possibly damaging Het
Fbxo38 A T 18: 62,666,587 (GRCm39) H195Q probably damaging Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fes A G 7: 80,033,619 (GRCm39) S211P possibly damaging Het
Fry G T 5: 150,317,603 (GRCm39) R861L possibly damaging Het
Galnt12 A G 4: 47,113,908 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,538 (GRCm39) W165* probably null Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gprc6a A G 10: 51,497,079 (GRCm39) V488A probably benign Het
Haus8 A T 8: 71,705,910 (GRCm39) probably benign Het
Helb A T 10: 119,948,692 (GRCm39) C26S possibly damaging Het
Icam1 A T 9: 20,937,862 (GRCm39) I300F probably benign Het
Ip6k1 A G 9: 107,918,211 (GRCm39) N181S probably benign Het
Kif27 A T 13: 58,476,818 (GRCm39) Y611N probably damaging Het
Lpcat2 A G 8: 93,640,979 (GRCm39) I475V possibly damaging Het
Lrit2 A G 14: 36,794,487 (GRCm39) K517R probably benign Het
Lrp1b A T 2: 40,555,171 (GRCm39) I4085N Het
Lrrc32 T A 7: 98,148,242 (GRCm39) S341T probably damaging Het
Lrrn2 T A 1: 132,866,831 (GRCm39) I632K possibly damaging Het
Mettl22 A G 16: 8,300,178 (GRCm39) Q194R probably benign Het
Mfhas1 T A 8: 36,057,394 (GRCm39) V623E probably damaging Het
Mitd1 T C 1: 37,929,315 (GRCm39) D26G probably damaging Het
Myo1a C T 10: 127,546,043 (GRCm39) T222M probably benign Het
Naf1 A G 8: 67,317,333 (GRCm39) K275R possibly damaging Het
Nf1 T C 11: 79,332,491 (GRCm39) L765P probably damaging Het
Or12k7 G T 2: 36,958,429 (GRCm39) M37I probably benign Het
Or52a5 A G 7: 103,427,063 (GRCm39) L163P possibly damaging Het
Or5ac16 T A 16: 59,022,264 (GRCm39) H175L possibly damaging Het
Or9r3 T A 10: 129,947,808 (GRCm39) I284F probably damaging Het
Pappa A G 4: 65,099,347 (GRCm39) H622R probably benign Het
Pcdhb4 A T 18: 37,442,055 (GRCm39) Y455F probably damaging Het
Pepd A G 7: 34,671,116 (GRCm39) Y220C probably damaging Het
Pias3 T C 3: 96,607,381 (GRCm39) I172T probably damaging Het
Polq T A 16: 36,853,893 (GRCm39) H415Q probably damaging Het
Pp2d1 A T 17: 53,814,897 (GRCm39) M609K probably benign Het
Ppm1m G A 9: 106,076,237 (GRCm39) probably benign Het
Prss22 T A 17: 24,215,662 (GRCm39) T87S probably benign Het
Ptprf C A 4: 118,095,125 (GRCm39) V254L possibly damaging Het
Ripply3 A G 16: 94,136,723 (GRCm39) E128G possibly damaging Het
Rrm2 A C 12: 24,760,470 (GRCm39) I185L possibly damaging Het
Sbsn T A 7: 30,454,227 (GRCm39) probably benign Het
Sdc3 T A 4: 130,546,336 (GRCm39) S232T probably benign Het
Slx4 G C 16: 3,803,458 (GRCm39) P1119A probably benign Het
Smc5 C T 19: 23,221,422 (GRCm39) R369Q probably damaging Het
Speer4a3 A G 5: 26,158,191 (GRCm39) S54P probably damaging Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Sptbn4 G A 7: 27,106,657 (GRCm39) Q924* probably null Het
Srcap G C 7: 127,158,037 (GRCm39) D2638H unknown Het
Srsf12 T C 4: 33,226,045 (GRCm39) S103P possibly damaging Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Them4 C T 3: 94,231,610 (GRCm39) T149I probably damaging Het
Trpc7 T C 13: 56,970,312 (GRCm39) Y424C possibly damaging Het
Ttn C T 2: 76,628,364 (GRCm39) D14599N probably damaging Het
Ttn A T 2: 76,698,244 (GRCm39) L186H Het
Usp17lc T C 7: 103,067,524 (GRCm39) F273S probably benign Het
Vwa5b2 T C 16: 20,419,516 (GRCm39) S620P probably 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
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
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'- ACGGCAAGAGTCTGGCTATC -3'
(R):5'- TCTTTGCAGCTTCAACATCCAG -3'

Sequencing Primer
(F):5'- GCAAGAGTCTGGCTATCTGTCTC -3'
(R):5'- CATCCAGATGTGTGTGGGAGC -3'
Posted On 2021-04-30