Incidental Mutation 'R7007:Gp1bb'
ID 544795
Institutional Source Beutler Lab
Gene Symbol Gp1bb
Ensembl Gene ENSMUSG00000050761
Gene Name glycoprotein Ib, beta polypeptide
Synonyms
MMRRC Submission 045109-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7007 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 18439069-18441153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18439689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 135 (D135V)
Ref Sequence ENSEMBL: ENSMUSP00000126292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051160] [ENSMUST00000096987] [ENSMUST00000167388] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231622] [ENSMUST00000231956] [ENSMUST00000232653]
AlphaFold P56400
Predicted Effect possibly damaging
Transcript: ENSMUST00000051160
AA Change: D143V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059270
Gene: ENSMUSG00000050761
AA Change: D143V

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 possibly damaging
Transcript: ENSMUST00000167388
AA Change: D135V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126292
Gene: ENSMUSG00000050761
AA Change: D135V

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 probably benign
Transcript: ENSMUST00000231335
Predicted Effect probably benign
Transcript: ENSMUST00000231622
Predicted Effect probably benign
Transcript: ENSMUST00000231956
Predicted Effect probably benign
Transcript: ENSMUST00000232653
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,121 (GRCm39) T57I probably benign Het
Adcy8 T C 15: 64,576,565 (GRCm39) N999S possibly damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Akap3 A G 6: 126,843,439 (GRCm39) D686G probably damaging Het
Alg2 A T 4: 47,471,881 (GRCm39) I309N probably benign Het
Ankrd36 A G 11: 5,639,168 (GRCm39) E1360G probably benign Het
Aox1 C A 1: 58,370,051 (GRCm39) Q788K probably damaging Het
Apoc2 A T 7: 19,407,282 (GRCm39) D26E possibly damaging Het
Bbx G A 16: 50,022,851 (GRCm39) T703I possibly damaging Het
C2cd4d T C 3: 94,271,378 (GRCm39) Y215H probably benign Het
C3 C T 17: 57,525,809 (GRCm39) E858K probably benign Het
Ciita T C 16: 10,329,171 (GRCm39) L482P probably damaging Het
Cldn9 T C 17: 23,902,052 (GRCm39) E191G probably benign Het
Cnst T A 1: 179,438,133 (GRCm39) S566T probably damaging Het
Col5a2 A G 1: 45,417,609 (GRCm39) I1322T possibly damaging Het
Cp G A 3: 20,024,137 (GRCm39) V326M probably damaging Het
Cyp7b1 G A 3: 18,151,782 (GRCm39) Q144* probably null Het
Dnah10 T C 5: 124,864,490 (GRCm39) S2232P probably damaging Het
Dnah17 T C 11: 118,009,697 (GRCm39) E625G possibly damaging Het
Dnah7c T A 1: 46,571,910 (GRCm39) D794E probably benign Het
Dusp10 G A 1: 183,769,414 (GRCm39) V127M probably benign Het
Dysf G C 6: 84,090,962 (GRCm39) W1015C probably damaging Het
Fbxw17 T C 13: 50,577,808 (GRCm39) Y104H probably damaging Het
Gm6408 G A 5: 146,420,647 (GRCm39) E176K probably damaging Het
Gprin1 C T 13: 54,886,069 (GRCm39) C735Y probably damaging Het
Heatr9 T A 11: 83,411,446 (GRCm39) M30L possibly damaging Het
Hhat G A 1: 192,376,134 (GRCm39) T333I possibly damaging Het
Htr5b A G 1: 121,438,223 (GRCm39) F336S probably damaging Het
Ippk T G 13: 49,590,181 (GRCm39) probably null Het
Jph1 T A 1: 17,074,410 (GRCm39) H11L possibly damaging Het
Kif12 T A 4: 63,084,717 (GRCm39) I534L probably benign Het
Lemd3 A T 10: 120,788,137 (GRCm39) F523I probably benign Het
Lgsn C A 1: 31,229,508 (GRCm39) H76Q probably benign Het
Lipm T A 19: 34,089,497 (GRCm39) W152R probably damaging Het
Mei1 A T 15: 81,978,200 (GRCm39) R216W probably damaging Het
Mybpc1 C T 10: 88,389,274 (GRCm39) G379S probably damaging Het
Myh8 A G 11: 67,179,142 (GRCm39) T512A probably benign Het
Nf1 A G 11: 79,337,849 (GRCm39) probably null Het
Npc1 T C 18: 12,343,605 (GRCm39) T463A probably benign Het
Or12e10 A G 2: 87,640,230 (GRCm39) N22S probably damaging Het
Or2y13 G A 11: 49,415,011 (GRCm39) V154M probably benign Het
Or6c7 A T 10: 129,323,277 (GRCm39) I133F probably damaging Het
Osbpl11 T G 16: 33,047,309 (GRCm39) I424R possibly damaging Het
Pnma8b A T 7: 16,680,181 (GRCm39) K388N possibly damaging Het
Ppp1r26 A T 2: 28,341,171 (GRCm39) K267I probably damaging Het
Psmb5 A T 14: 54,854,166 (GRCm39) M104K probably damaging Het
Ptges2 T C 2: 32,292,318 (GRCm39) V378A probably benign Het
Rcan2 C T 17: 44,147,216 (GRCm39) S18F probably benign Het
Saxo5 A T 8: 3,526,309 (GRCm39) D154V probably damaging Het
Sf3b2 C T 19: 5,324,545 (GRCm39) R859Q probably benign Het
Slc7a1 G A 5: 148,289,256 (GRCm39) Het
Spata31d1a T A 13: 59,851,448 (GRCm39) T227S probably benign Het
Sptbn2 T A 19: 4,794,173 (GRCm39) V1459E possibly damaging Het
Srgap2 T C 1: 131,247,275 (GRCm39) I586V probably benign Het
St6galnac1 G A 11: 116,657,833 (GRCm39) R356* probably null Het
Taf5 T A 19: 47,059,650 (GRCm39) F265I probably damaging Het
Tkfc T A 19: 10,573,727 (GRCm39) I229L probably benign Het
Tmem132c T A 5: 127,436,679 (GRCm39) L56Q probably damaging Het
Togaram2 C T 17: 72,016,638 (GRCm39) A665V probably damaging Het
Ttn G A 2: 76,537,390 (GRCm39) T34846I probably benign Het
Tyr G A 7: 87,142,548 (GRCm39) A4V probably benign Het
Ubap2 A C 4: 41,206,221 (GRCm39) F549L probably damaging Het
Usp2 T C 9: 44,001,339 (GRCm39) S294P probably damaging Het
Vrk3 A G 7: 44,407,187 (GRCm39) N53D probably damaging Het
Zfp324 T C 7: 12,705,142 (GRCm39) S444P probably damaging Het
Zfp597 T C 16: 3,683,791 (GRCm39) I322V probably benign Het
Other mutations in Gp1bb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Gp1bb APN 16 18,439,650 (GRCm39) missense possibly damaging 0.79
IGL02956:Gp1bb APN 16 18,439,675 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- CTTAGGATGCACCACCTCTG -3'
(R):5'- AGTGCTTCTCTTTCAGGGC -3'

Sequencing Primer
(F):5'- ACCACCTCTGGCCGACTC -3'
(R):5'- AATTGGTGCTGACCGGC -3'
Posted On 2019-05-13