Incidental Mutation 'IGL02956:Gp1bb'
ID 365134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gp1bb
Ensembl Gene ENSMUSG00000050761
Gene Name glycoprotein Ib, beta polypeptide
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02956
Quality Score
Status
Chromosome 16
Chromosomal Location 18439069-18441153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18439675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 140 (A140S)
Ref Sequence ENSEMBL: ENSMUSP00000126292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051160] [ENSMUST00000096987] [ENSMUST00000167388] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231622] [ENSMUST00000232653] [ENSMUST00000231956]
AlphaFold P56400
Predicted Effect probably benign
Transcript: ENSMUST00000051160
AA Change: A148S

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000059270
Gene: ENSMUSG00000050761
AA Change: A148S

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
LRRNT 33 67 4.14e-11 SMART
low complexity region 75 94 N/A INTRINSIC
LRRCT 97 150 4.88e-14 SMART
transmembrane domain 159 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096987
SMART Domains Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214

DomainStartEndE-ValueType
Pfam:Septin 41 321 1.2e-127 PFAM
Pfam:MMR_HSR1 46 190 5.1e-7 PFAM
low complexity region 355 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167388
AA Change: A140S

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126292
Gene: ENSMUSG00000050761
AA Change: A140S

DomainStartEndE-ValueType
LRRNT 25 59 4.14e-11 SMART
low complexity region 67 86 N/A INTRINSIC
LRRCT 89 142 4.88e-14 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231246
Predicted Effect probably benign
Transcript: ENSMUST00000231335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231400
Predicted Effect probably benign
Transcript: ENSMUST00000231622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231642
Predicted Effect probably benign
Transcript: ENSMUST00000232653
Predicted Effect probably benign
Transcript: ENSMUST00000231956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232152
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a significantly smaller than normal number of abnormally large platelets. They also display a severe bleeding phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,873,049 (GRCm39) A339V probably benign Het
Adck2 T C 6: 39,553,436 (GRCm39) V349A probably benign Het
Akna G T 4: 63,304,516 (GRCm39) T546K probably benign Het
Albfm1 A G 5: 90,727,497 (GRCm39) I372V possibly damaging Het
Ankrd29 T C 18: 12,393,993 (GRCm39) K274E probably damaging Het
Apc2 A T 10: 80,142,209 (GRCm39) N376I probably damaging Het
Cadps A G 14: 12,418,047 (GRCm38) probably benign Het
Cbl T C 9: 44,080,331 (GRCm39) T243A probably damaging Het
Cep15 A G 14: 12,287,326 (GRCm38) N29S probably benign Het
Cfap52 T C 11: 67,844,901 (GRCm39) E56G probably benign Het
Chd5 C A 4: 152,464,413 (GRCm39) P1561Q probably benign Het
Dscam A G 16: 96,602,472 (GRCm39) S657P probably damaging Het
Ece1 T C 4: 137,690,149 (GRCm39) F732L probably damaging Het
Eno2 T C 6: 124,740,082 (GRCm39) D199G probably damaging Het
Enpp3 A G 10: 24,650,841 (GRCm39) probably benign Het
Fbxl15 G T 19: 46,317,690 (GRCm39) C124F probably damaging Het
Fermt3 T C 19: 6,979,712 (GRCm39) S474G probably benign Het
Fkbp6 T C 5: 135,368,350 (GRCm39) E252G probably damaging Het
Gm6625 A T 8: 89,873,667 (GRCm39) noncoding transcript Het
Gnl1 T C 17: 36,298,504 (GRCm39) I416T probably benign Het
Grin2c A G 11: 115,148,785 (GRCm39) V271A possibly damaging Het
Heatr1 T A 13: 12,430,940 (GRCm39) S1012T possibly damaging Het
Ighv5-6 T A 12: 113,589,523 (GRCm39) probably benign Het
Itga10 A G 3: 96,562,429 (GRCm39) E737G possibly damaging Het
Lmod2 A C 6: 24,603,631 (GRCm39) N202T probably damaging Het
Lrp1 C T 10: 127,380,428 (GRCm39) V3908I probably benign Het
Lrrtm4 T C 6: 79,998,633 (GRCm39) V15A probably benign Het
Mup4 A T 4: 59,959,263 (GRCm39) D77E probably benign Het
Myh7b A T 2: 155,474,823 (GRCm39) E1787V probably damaging Het
Myh7b T A 2: 155,467,874 (GRCm39) M804K possibly damaging Het
Nup133 T C 8: 124,675,822 (GRCm39) S32G probably benign Het
Or13c7d T A 4: 43,770,399 (GRCm39) N204I probably benign Het
Or52h1 T C 7: 103,829,334 (GRCm39) I94V probably damaging Het
Or7d10 T C 9: 19,832,348 (GRCm39) V281A possibly damaging Het
Or8b8 A G 9: 37,809,404 (GRCm39) K235E probably damaging Het
Polr2m T C 9: 71,390,911 (GRCm39) D97G possibly damaging Het
Pou2f3 A G 9: 43,054,100 (GRCm39) probably benign Het
Rex1bd C A 8: 70,958,552 (GRCm39) V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 (GRCm39) T261A possibly damaging Het
Satb2 A G 1: 56,987,334 (GRCm39) F84L probably damaging Het
Sec14l1 G A 11: 117,043,973 (GRCm39) D494N probably benign Het
Spn G A 7: 126,736,432 (GRCm39) T25M probably damaging Het
Trp73 G A 4: 154,148,920 (GRCm39) probably benign Het
Tsc22d2 A G 3: 58,324,967 (GRCm39) T620A unknown Het
Zfp276 T C 8: 123,981,483 (GRCm39) L10P probably damaging Het
Zfp93 T A 7: 23,974,400 (GRCm39) N128K probably benign Het
Other mutations in Gp1bb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Gp1bb APN 16 18,439,650 (GRCm39) missense possibly damaging 0.79
R4603:Gp1bb UTSW 16 18,439,893 (GRCm39) missense probably damaging 1.00
R4610:Gp1bb UTSW 16 18,439,893 (GRCm39) missense probably damaging 1.00
R7007:Gp1bb UTSW 16 18,439,689 (GRCm39) missense possibly damaging 0.73
R8418:Gp1bb UTSW 16 18,440,103 (GRCm39) missense unknown
R9622:Gp1bb UTSW 16 18,439,527 (GRCm39) missense probably benign 0.22
R9702:Gp1bb UTSW 16 18,439,884 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18