Incidental Mutation 'R9393:Gp1ba'
ID 710690
Institutional Source Beutler Lab
Gene Symbol Gp1ba
Ensembl Gene ENSMUSG00000050675
Gene Name glycoprotein 1b, alpha polypeptide
Synonyms GPIba, GP Ib-alpha, GPIb-alpha
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.282) question?
Stock # R9393 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 70529948-70532862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70531293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 353 (Q353L)
Ref Sequence ENSEMBL: ENSMUSP00000104191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014750] [ENSMUST00000055184] [ENSMUST00000108551] [ENSMUST00000139638]
AlphaFold O35930
Predicted Effect probably benign
Transcript: ENSMUST00000014750
SMART Domains Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606

DomainStartEndE-ValueType
Pfam:Mito_carr 18 112 1.3e-22 PFAM
Pfam:Mito_carr 115 213 2.6e-19 PFAM
Pfam:Mito_carr 216 311 5.2e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000055184
AA Change: Q353L
SMART Domains Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675
AA Change: Q353L

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRRNT 19 51 1.66e-1 SMART
LRR 70 91 2.54e2 SMART
LRR 92 114 9.96e-1 SMART
LRR_TYP 115 138 1.56e-2 SMART
LRR_TYP 139 162 1.47e-3 SMART
LRR 163 186 1.89e-1 SMART
LRR 187 210 8.09e-1 SMART
LRRCT 221 281 2.53e-12 SMART
low complexity region 403 432 N/A INTRINSIC
low complexity region 446 530 N/A INTRINSIC
low complexity region 533 579 N/A INTRINSIC
transmembrane domain 612 634 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
PDB:2BP3|T 680 701 2e-6 PDB
Predicted Effect unknown
Transcript: ENSMUST00000108551
AA Change: Q353L
SMART Domains Protein: ENSMUSP00000104191
Gene: ENSMUSG00000050675
AA Change: Q353L

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRRNT 19 51 1.66e-1 SMART
LRR 70 91 2.54e2 SMART
LRR 92 114 9.96e-1 SMART
LRR_TYP 115 138 1.56e-2 SMART
LRR_TYP 139 162 1.47e-3 SMART
LRR 163 186 1.89e-1 SMART
LRR 187 210 8.09e-1 SMART
LRRCT 221 281 2.53e-12 SMART
low complexity region 403 432 N/A INTRINSIC
low complexity region 446 530 N/A INTRINSIC
low complexity region 533 579 N/A INTRINSIC
transmembrane domain 612 634 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
PDB:2BP3|T 680 701 2e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000139638
SMART Domains Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606

DomainStartEndE-ValueType
Pfam:Mito_carr 1 80 7.4e-17 PFAM
Pfam:Mito_carr 83 181 1.1e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,616,270 (GRCm39) S133G possibly damaging Het
Agps A G 2: 75,735,256 (GRCm39) E567G possibly damaging Het
Ak9 T C 10: 41,285,068 (GRCm39) I1381T unknown Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arrb1 T A 7: 99,238,891 (GRCm39) C150S probably damaging Het
Asz1 T C 6: 18,051,330 (GRCm39) I450V probably benign Het
Atp10b A G 11: 43,063,608 (GRCm39) N181S probably damaging Het
Bptf A C 11: 106,965,134 (GRCm39) D1353E probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc106 T A 7: 5,059,200 (GRCm39) I6N possibly damaging Het
Celf6 A T 9: 59,510,525 (GRCm39) Q252L probably benign Het
Colgalt2 A T 1: 152,360,598 (GRCm39) K212* probably null Het
Cryba4 T C 5: 112,394,632 (GRCm39) S166G probably benign Het
Cyp2w1 A G 5: 139,342,035 (GRCm39) E123G probably benign Het
Cyp4a10 G C 4: 115,382,566 (GRCm39) K285N probably damaging Het
Cyth1 G T 11: 118,074,710 (GRCm39) T197K probably benign Het
Ddhd1 A G 14: 45,894,685 (GRCm39) W262R probably damaging Het
Dnah8 T A 17: 30,872,361 (GRCm39) V450D possibly damaging Het
Eml5 C T 12: 98,842,433 (GRCm39) V222I probably benign Het
Fbxw19 A G 9: 109,324,873 (GRCm39) S15P probably damaging Het
Fhip2b G A 14: 70,831,463 (GRCm39) Q24* probably null Het
Fignl2 C A 15: 100,951,466 (GRCm39) R272L unknown Het
Gm10842 A T 11: 105,037,885 (GRCm39) D56V unknown Het
Gmps T A 3: 63,900,640 (GRCm39) N305K probably benign Het
Gnai1 A T 5: 18,565,055 (GRCm39) L38Q Het
Golim4 A T 3: 75,785,464 (GRCm39) D642E probably benign Het
Gpnmb T C 6: 49,024,996 (GRCm39) S343P possibly damaging Het
Hexb G A 13: 97,313,336 (GRCm39) R507* probably null Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Khsrp T C 17: 57,330,350 (GRCm39) Y585C probably damaging Het
Kif21a A T 15: 90,853,981 (GRCm39) D795E probably benign Het
Klkb1 A T 8: 45,729,392 (GRCm39) V309E probably benign Het
Krtap9-1 C A 11: 99,764,664 (GRCm39) C133* probably null Het
Krtcap2 T C 3: 89,153,578 (GRCm39) probably benign Het
Lilra5 T C 7: 4,240,758 (GRCm39) M1T probably null Het
Magi1 G A 6: 93,659,890 (GRCm39) T1019I probably benign Het
Mdn1 T A 4: 32,713,825 (GRCm39) H1967Q Het
Mgat4f A G 1: 134,318,596 (GRCm39) D456G probably benign Het
Mroh2b A T 15: 4,980,666 (GRCm39) T1412S probably benign Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Ncapd3 A G 9: 26,962,682 (GRCm39) T373A possibly damaging Het
Noc2l T C 4: 156,320,784 (GRCm39) probably null Het
Nrg4 C T 9: 55,149,420 (GRCm39) S59N probably benign Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or11g24 T C 14: 50,662,255 (GRCm39) V93A probably benign Het
Or9k2 T C 10: 129,999,016 (GRCm39) T60A probably benign Het
Pcdhga6 G T 18: 37,840,212 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,475,955 (GRCm39) N196S probably damaging Het
Ppp4r4 T A 12: 103,571,296 (GRCm39) Y787* probably null Het
Psma8 G A 18: 14,839,298 (GRCm39) R4Q probably null Het
Reg4 A G 3: 98,137,168 (GRCm39) K46E probably benign Het
Rnf14 T A 18: 38,442,680 (GRCm39) M327K possibly damaging Het
Rtn1 A T 12: 72,263,586 (GRCm39) Y753* probably null Het
Slc26a11 A G 11: 119,259,627 (GRCm39) R275G probably benign Het
Stard9 A G 2: 120,518,656 (GRCm39) T527A possibly damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tas1r1 C T 4: 152,116,413 (GRCm39) C407Y probably damaging Het
Tcstv1b A T 13: 120,634,958 (GRCm39) Y80F probably benign Het
Tenm3 A G 8: 49,127,559 (GRCm39) S40P probably damaging Het
Tespa1 T A 10: 130,183,066 (GRCm39) S4T probably damaging Het
Tlr11 A G 14: 50,599,547 (GRCm39) N511S probably benign Het
Tmprss15 A G 16: 78,754,211 (GRCm39) I1014T probably benign Het
Tpte T A 8: 22,774,990 (GRCm39) M20K probably benign Het
Ttn A G 2: 76,612,390 (GRCm39) V17199A possibly damaging Het
Tubgcp3 A G 8: 12,703,411 (GRCm39) Y305H probably damaging Het
Ubr4 T A 4: 139,212,613 (GRCm39) V5081E unknown Het
Unkl T C 17: 25,448,392 (GRCm39) S322P probably damaging Het
Uqcc6 A G 10: 82,458,475 (GRCm39) S59P unknown Het
Vav3 T A 3: 109,485,682 (GRCm39) probably null Het
Vmn1r76 A G 7: 11,664,765 (GRCm39) S150P probably benign Het
Xpot A G 10: 121,445,600 (GRCm39) probably null Het
Xylt1 A G 7: 117,242,906 (GRCm39) I650V probably benign Het
Zan C A 5: 137,403,682 (GRCm39) A3955S unknown Het
Other mutations in Gp1ba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Gp1ba APN 11 70,531,478 (GRCm39) unclassified probably benign
IGL00715:Gp1ba APN 11 70,530,744 (GRCm39) unclassified probably benign
R0126:Gp1ba UTSW 11 70,531,859 (GRCm39) unclassified probably benign
R0329:Gp1ba UTSW 11 70,531,235 (GRCm39) unclassified probably benign
R0360:Gp1ba UTSW 11 70,531,284 (GRCm39) unclassified probably benign
R0364:Gp1ba UTSW 11 70,531,284 (GRCm39) unclassified probably benign
R0561:Gp1ba UTSW 11 70,530,416 (GRCm39) unclassified probably benign
R0693:Gp1ba UTSW 11 70,531,284 (GRCm39) unclassified probably benign
R0715:Gp1ba UTSW 11 70,531,614 (GRCm39) unclassified probably benign
R0762:Gp1ba UTSW 11 70,532,253 (GRCm39) missense probably damaging 1.00
R0766:Gp1ba UTSW 11 70,532,253 (GRCm39) missense probably damaging 1.00
R1178:Gp1ba UTSW 11 70,532,253 (GRCm39) missense probably damaging 1.00
R1181:Gp1ba UTSW 11 70,532,253 (GRCm39) missense probably damaging 1.00
R1448:Gp1ba UTSW 11 70,532,253 (GRCm39) missense probably damaging 1.00
R1926:Gp1ba UTSW 11 70,531,715 (GRCm39) unclassified probably benign
R2317:Gp1ba UTSW 11 70,531,473 (GRCm39) unclassified probably benign
R5101:Gp1ba UTSW 11 70,532,225 (GRCm39) missense probably benign 0.13
R6243:Gp1ba UTSW 11 70,530,963 (GRCm39) unclassified probably benign
R7020:Gp1ba UTSW 11 70,531,139 (GRCm39) unclassified probably benign
R7340:Gp1ba UTSW 11 70,531,119 (GRCm39) missense unknown
R7571:Gp1ba UTSW 11 70,530,920 (GRCm39) missense unknown
R8224:Gp1ba UTSW 11 70,530,683 (GRCm39) missense unknown
R8958:Gp1ba UTSW 11 70,531,730 (GRCm39) unclassified probably benign
R9164:Gp1ba UTSW 11 70,531,283 (GRCm39) missense unknown
X0025:Gp1ba UTSW 11 70,531,728 (GRCm39) unclassified probably benign
Z1177:Gp1ba UTSW 11 70,530,233 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGCCCTACTAGTAGTGGTGAC -3'
(R):5'- TCAGGATGGTAGTAGTGGGCAC -3'

Sequencing Primer
(F):5'- GACTATGATGATATCCCTGACGTC -3'
(R):5'- CTGTGCTCTGGGGTAGTCAG -3'
Posted On 2022-04-18