Incidental Mutation 'R0125:Itgb3'
ID 21314
Institutional Source Beutler Lab
Gene Symbol Itgb3
Ensembl Gene ENSMUSG00000020689
Gene Name integrin beta 3
Synonyms platelet glycoprotein IIIa (GP3A), CD61
MMRRC Submission 038410-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R0125 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 104498826-104561302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104534789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 549 (D549N)
Ref Sequence ENSEMBL: ENSMUSP00000021028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021028]
AlphaFold O54890
Predicted Effect probably damaging
Transcript: ENSMUST00000021028
AA Change: D549N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: D549N

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
PSI 29 75 4.43e-5 SMART
INB 37 460 3.16e-276 SMART
VWA 136 395 8.65e-2 SMART
Pfam:EGF_2 511 546 6.8e-7 PFAM
Pfam:EGF_2 553 583 8.1e-7 PFAM
Integrin_B_tail 633 717 1.07e-28 SMART
Integrin_b_cyt 741 787 1.78e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127140
Meta Mutation Damage Score 0.5491 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 98% (96/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T C 14: 70,394,096 (GRCm39) probably benign Het
Adam23 T C 1: 63,573,515 (GRCm39) L261P probably benign Het
Adgra3 G A 5: 50,159,194 (GRCm39) probably benign Het
Agtr1b A G 3: 20,369,704 (GRCm39) F301L probably benign Het
Ahnak2 G A 12: 112,748,776 (GRCm39) T357I probably benign Het
Aldh1a7 T C 19: 20,704,430 (GRCm39) probably benign Het
Apoh A T 11: 108,302,899 (GRCm39) N288I probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Atp6v0a1 A G 11: 100,929,677 (GRCm39) probably null Het
Axl A T 7: 25,486,368 (GRCm39) M112K probably benign Het
Bnc2 A C 4: 84,211,169 (GRCm39) I425S probably damaging Het
Ccn4 T C 15: 66,789,194 (GRCm39) S227P possibly damaging Het
Cdc42bpa C T 1: 179,788,763 (GRCm39) T30M probably damaging Het
Cebpz C A 17: 79,227,317 (GRCm39) R1051M possibly damaging Het
Ces1d A C 8: 93,901,810 (GRCm39) probably benign Het
Chd1l T C 3: 97,494,465 (GRCm39) N405S probably benign Het
Chodl G T 16: 78,738,311 (GRCm39) G93V probably damaging Het
Cpeb2 C T 5: 43,395,743 (GRCm39) probably benign Het
Crebbp A G 16: 3,935,105 (GRCm39) probably benign Het
Crybb3 T C 5: 113,227,675 (GRCm39) T49A possibly damaging Het
Ctps1 A G 4: 120,418,722 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,551,497 (GRCm39) Y240H probably damaging Het
Cyp2d11 A C 15: 82,273,422 (GRCm39) V483G probably benign Het
Dennd2b T C 7: 109,155,545 (GRCm39) K402E probably benign Het
Dnah14 A T 1: 181,579,628 (GRCm39) N3054Y probably damaging Het
Dspp A C 5: 104,325,905 (GRCm39) D756A unknown Het
Dst T C 1: 34,309,984 (GRCm39) S1553P probably damaging Het
Elp4 A G 2: 105,622,559 (GRCm39) probably null Het
Eml6 G T 11: 29,832,088 (GRCm39) T194K probably benign Het
Evi5 A G 5: 107,943,638 (GRCm39) I569T probably benign Het
Fancm C T 12: 65,168,730 (GRCm39) P1698S possibly damaging Het
Fhdc1 T C 3: 84,352,852 (GRCm39) D791G probably benign Het
Frem1 A G 4: 82,930,188 (GRCm39) Y253H probably damaging Het
Gpn3 A G 5: 122,519,481 (GRCm39) Y196C probably benign Het
Hcls1 A G 16: 36,782,525 (GRCm39) D398G probably benign Het
Hydin T C 8: 111,189,163 (GRCm39) V1189A probably benign Het
Itpr2 A G 6: 146,141,951 (GRCm39) F1697S probably benign Het
Klk1b11 A G 7: 43,648,475 (GRCm39) T161A probably benign Het
Kntc1 G A 5: 123,903,120 (GRCm39) probably benign Het
Map3k19 A T 1: 127,750,837 (GRCm39) F838Y probably benign Het
Map6 T A 7: 98,985,187 (GRCm39) probably null Het
Mcrs1 A G 15: 99,142,608 (GRCm39) probably benign Het
Mdn1 A T 4: 32,729,956 (GRCm39) Y2766F probably damaging Het
Med23 C T 10: 24,776,686 (GRCm39) H739Y probably damaging Het
Mmp17 T A 5: 129,671,646 (GRCm39) D65E possibly damaging Het
Mmp9 T A 2: 164,793,177 (GRCm39) L442Q probably damaging Het
Myo19 T C 11: 84,779,001 (GRCm39) probably benign Het
Nedd1 A C 10: 92,527,791 (GRCm39) S468A possibly damaging Het
Niban2 T A 2: 32,813,833 (GRCm39) V682D probably benign Het
Nlrp4d A C 7: 10,116,316 (GRCm39) V152G probably damaging Het
Nxf1 T A 19: 8,740,170 (GRCm39) D112E probably benign Het
Oas1h A T 5: 121,000,626 (GRCm39) K79* probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or5p69 A G 7: 107,967,576 (GRCm39) Y293C probably damaging Het
Or8b101 A G 9: 38,020,815 (GRCm39) T278A probably benign Het
Or8b1b T A 9: 38,375,757 (GRCm39) L140* probably null Het
Pck1 G A 2: 172,997,874 (GRCm39) W314* probably null Het
Pla2g15 T C 8: 106,889,756 (GRCm39) Y343H probably benign Het
Plcb3 T C 19: 6,936,276 (GRCm39) E749G probably damaging Het
Plgrkt A G 19: 29,328,442 (GRCm39) probably null Het
Pprc1 A G 19: 46,057,951 (GRCm39) probably benign Het
Prkdc A T 16: 15,516,871 (GRCm39) I1082F probably damaging Het
Rapgef6 T A 11: 54,516,701 (GRCm39) Y172* probably null Het
Ros1 G T 10: 52,001,885 (GRCm39) A1079D probably benign Het
Sap30 T C 8: 57,938,545 (GRCm39) E147G probably null Het
Sell T C 1: 163,899,674 (GRCm39) probably benign Het
Senp1 A T 15: 97,946,112 (GRCm39) D544E probably damaging Het
Shpk G A 11: 73,105,048 (GRCm39) probably benign Het
Slc35b1 A T 11: 95,277,353 (GRCm39) T74S probably benign Het
Slc6a3 T A 13: 73,718,098 (GRCm39) probably benign Het
Slf1 T C 13: 77,191,864 (GRCm39) N990S probably benign Het
Smgc A G 15: 91,738,746 (GRCm39) probably benign Het
Snx19 T A 9: 30,351,515 (GRCm39) V861D probably damaging Het
Sprr2e C T 3: 92,260,285 (GRCm39) P39S unknown Het
Sstr2 T A 11: 113,515,303 (GRCm39) M74K probably damaging Het
Svep1 T C 4: 58,099,937 (GRCm39) probably benign Het
Tas2r143 A G 6: 42,377,889 (GRCm39) I240V probably benign Het
Tbrg1 T C 9: 37,563,937 (GRCm39) I233V probably benign Het
Tecpr1 G T 5: 144,134,717 (GRCm39) D1055E probably damaging Het
Thap2 A T 10: 115,212,277 (GRCm39) probably null Het
Tinagl1 A G 4: 130,060,101 (GRCm39) Y388H probably damaging Het
Ttn T A 2: 76,585,896 (GRCm39) Y21945F probably damaging Het
Ugt2b1 A T 5: 87,073,961 (GRCm39) W133R probably benign Het
Usp24 C T 4: 106,254,496 (GRCm39) P1491L possibly damaging Het
Utp15 A G 13: 98,387,390 (GRCm39) S395P possibly damaging Het
Vav1 T A 17: 57,606,847 (GRCm39) L254Q probably damaging Het
Vmn2r104 T C 17: 20,250,069 (GRCm39) Y734C probably damaging Het
Vps8 T A 16: 21,288,904 (GRCm39) V421E probably benign Het
Xkr7 G T 2: 152,874,346 (GRCm39) A138S probably benign Het
Other mutations in Itgb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Itgb3 APN 11 104,524,410 (GRCm39) missense probably damaging 1.00
IGL01460:Itgb3 APN 11 104,553,220 (GRCm39) nonsense probably null
IGL01615:Itgb3 APN 11 104,534,791 (GRCm39) missense probably damaging 1.00
IGL01669:Itgb3 APN 11 104,524,216 (GRCm39) splice site probably benign
IGL02057:Itgb3 APN 11 104,523,174 (GRCm39) missense probably damaging 1.00
IGL02192:Itgb3 APN 11 104,534,765 (GRCm39) missense probably benign
IGL02604:Itgb3 APN 11 104,553,269 (GRCm39) missense probably damaging 0.99
IGL02708:Itgb3 APN 11 104,528,655 (GRCm39) missense possibly damaging 0.60
IGL02901:Itgb3 APN 11 104,528,772 (GRCm39) missense probably benign 0.18
IGL03288:Itgb3 APN 11 104,524,293 (GRCm39) missense probably damaging 1.00
R0042:Itgb3 UTSW 11 104,557,966 (GRCm39) missense possibly damaging 0.80
R0042:Itgb3 UTSW 11 104,557,966 (GRCm39) missense possibly damaging 0.80
R0123:Itgb3 UTSW 11 104,527,914 (GRCm39) missense probably damaging 1.00
R0637:Itgb3 UTSW 11 104,549,702 (GRCm39) missense probably benign 0.02
R2017:Itgb3 UTSW 11 104,528,788 (GRCm39) missense possibly damaging 0.70
R2045:Itgb3 UTSW 11 104,514,239 (GRCm39) missense probably benign
R2200:Itgb3 UTSW 11 104,531,812 (GRCm39) splice site probably null
R2225:Itgb3 UTSW 11 104,556,336 (GRCm39) missense probably benign 0.00
R2429:Itgb3 UTSW 11 104,527,914 (GRCm39) missense probably damaging 1.00
R3820:Itgb3 UTSW 11 104,524,438 (GRCm39) nonsense probably null
R4863:Itgb3 UTSW 11 104,556,346 (GRCm39) missense probably damaging 1.00
R5116:Itgb3 UTSW 11 104,531,903 (GRCm39) missense probably benign 0.20
R5301:Itgb3 UTSW 11 104,524,480 (GRCm39) splice site probably null
R5933:Itgb3 UTSW 11 104,528,805 (GRCm39) missense possibly damaging 0.63
R6361:Itgb3 UTSW 11 104,556,408 (GRCm39) missense possibly damaging 0.72
R6436:Itgb3 UTSW 11 104,524,318 (GRCm39) missense probably damaging 0.99
R6452:Itgb3 UTSW 11 104,524,290 (GRCm39) nonsense probably null
R7196:Itgb3 UTSW 11 104,524,438 (GRCm39) nonsense probably null
R7438:Itgb3 UTSW 11 104,534,403 (GRCm39) missense possibly damaging 0.90
R8006:Itgb3 UTSW 11 104,556,322 (GRCm39) missense possibly damaging 0.56
R8068:Itgb3 UTSW 11 104,556,337 (GRCm39) missense probably benign 0.35
R8378:Itgb3 UTSW 11 104,533,142 (GRCm39) missense possibly damaging 0.95
R9052:Itgb3 UTSW 11 104,524,413 (GRCm39) missense probably damaging 1.00
R9055:Itgb3 UTSW 11 104,556,451 (GRCm39) nonsense probably null
Z1176:Itgb3 UTSW 11 104,534,449 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- AGGTGACCTTCGACTGTGACTGTG -3'
(R):5'- ATTCAGTGGACCCTCAGTTCTGCC -3'

Sequencing Primer
(F):5'- CACGCTGCAACAATGGG -3'
(R):5'- AGTTCTGCCCGCCTTGC -3'
Posted On 2013-04-11