Incidental Mutation 'IGL02192:Itgb3'
ID283896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb3
Ensembl Gene ENSMUSG00000020689
Gene Nameintegrin beta 3
SynonymsCD61, platelet glycoprotein IIIa (GP3A)
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.867) question?
Stock #IGL02192
Quality Score
Status
Chromosome11
Chromosomal Location104608000-104670476 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104643939 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 541 (I541V)
Ref Sequence ENSEMBL: ENSMUSP00000021028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021028]
Predicted Effect probably benign
Transcript: ENSMUST00000021028
AA Change: I541V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: I541V

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
Coding Region Coverage
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,898,400 M545K possibly damaging Het
Adamtsl1 A G 4: 86,228,016 E303G probably damaging Het
Anxa13 A T 15: 58,348,780 noncoding transcript Het
Ap2b1 C T 11: 83,346,766 T552I possibly damaging Het
Cars T C 7: 143,571,588 S388G probably damaging Het
Cdh18 A T 15: 23,460,316 D544V probably damaging Het
Chat T C 14: 32,423,322 R377G possibly damaging Het
Col14a1 A G 15: 55,362,402 T154A unknown Het
Col9a1 C T 1: 24,221,987 P311S probably damaging Het
Cpsf3 G T 12: 21,310,193 probably benign Het
Cpsf3 G T 12: 21,310,196 probably null Het
Dock8 T C 19: 25,078,205 probably null Het
Eml6 A G 11: 29,805,743 I837T probably benign Het
Epb41 T C 4: 131,929,717 T792A probably damaging Het
Exph5 A T 9: 53,376,325 R1569* probably null Het
F13b A T 1: 139,517,333 T574S probably damaging Het
Fam160a1 A G 3: 85,673,326 L524P possibly damaging Het
Fam184b G T 5: 45,537,720 D727E probably benign Het
Fhod3 T C 18: 25,056,358 L619P probably damaging Het
Fsd1l A G 4: 53,647,754 I66V probably benign Het
Fv1 A G 4: 147,870,255 D426G possibly damaging Het
Gm3371 A T 14: 44,403,778 probably benign Het
Hnf1a A T 5: 114,960,118 S142T probably damaging Het
Itgbl1 G T 14: 123,843,926 C239F probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Larp1b G T 3: 40,967,494 S116I probably benign Het
Lmtk3 A G 7: 45,794,509 probably benign Het
Mapk10 T C 5: 102,989,647 I235V probably damaging Het
Mctp1 C T 13: 76,731,768 probably benign Het
Megf8 G A 7: 25,353,860 D1819N probably damaging Het
Muc6 T C 7: 141,637,804 T2254A possibly damaging Het
Nbr1 T A 11: 101,569,591 S444T probably damaging Het
Ncor2 A T 5: 125,024,237 D1956E probably damaging Het
Ndufaf5 T C 2: 140,188,743 V183A probably benign Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Npy5r T A 8: 66,681,346 H265L probably benign Het
Olfr1008 G A 2: 85,690,128 G233D possibly damaging Het
Olfr418 T A 1: 173,270,850 L225H probably damaging Het
Pop1 A G 15: 34,529,071 E749G probably benign Het
Ppil3 T C 1: 58,438,388 I66V probably damaging Het
Prl4a1 C A 13: 28,018,571 T43K possibly damaging Het
Prop1 A G 11: 50,953,286 probably benign Het
Qrsl1 A T 10: 43,885,014 I218N probably damaging Het
Rbm22 T A 18: 60,564,412 M63K possibly damaging Het
Rictor T C 15: 6,786,414 S1056P probably benign Het
Rps6kb2 T C 19: 4,157,588 T388A probably damaging Het
Slc7a5 A G 8: 121,886,390 probably benign Het
Sp100 A T 1: 85,708,001 D509V probably damaging Het
Spata18 G T 5: 73,672,518 probably null Het
Sspo C A 6: 48,459,568 T1254K possibly damaging Het
Stk19 A G 17: 34,832,158 probably benign Het
Taar8b T A 10: 24,091,364 I311F probably damaging Het
Themis2 C A 4: 132,783,347 probably null Het
Tll2 T C 19: 41,086,263 Y937C possibly damaging Het
Trim34a T A 7: 104,247,732 M1K probably null Het
Usp50 G A 2: 126,778,038 T118I possibly damaging Het
Vps13d G A 4: 145,148,858 S1693F probably benign Het
Vps16 T A 2: 130,440,932 I467N probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Itgb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Itgb3 APN 11 104633584 missense probably damaging 1.00
IGL01460:Itgb3 APN 11 104662394 nonsense probably null
IGL01615:Itgb3 APN 11 104643965 missense probably damaging 1.00
IGL01669:Itgb3 APN 11 104633390 splice site probably benign
IGL02057:Itgb3 APN 11 104632348 missense probably damaging 1.00
IGL02604:Itgb3 APN 11 104662443 missense probably damaging 0.99
IGL02708:Itgb3 APN 11 104637829 missense possibly damaging 0.60
IGL02901:Itgb3 APN 11 104637946 missense probably benign 0.18
IGL03288:Itgb3 APN 11 104633467 missense probably damaging 1.00
R0042:Itgb3 UTSW 11 104667140 missense possibly damaging 0.80
R0042:Itgb3 UTSW 11 104667140 missense possibly damaging 0.80
R0123:Itgb3 UTSW 11 104637088 missense probably damaging 1.00
R0125:Itgb3 UTSW 11 104643963 missense probably damaging 1.00
R0637:Itgb3 UTSW 11 104658876 missense probably benign 0.02
R2017:Itgb3 UTSW 11 104637962 missense possibly damaging 0.70
R2045:Itgb3 UTSW 11 104623413 missense probably benign
R2200:Itgb3 UTSW 11 104640986 splice site probably null
R2225:Itgb3 UTSW 11 104665510 missense probably benign 0.00
R2429:Itgb3 UTSW 11 104637088 missense probably damaging 1.00
R3820:Itgb3 UTSW 11 104633612 nonsense probably null
R4863:Itgb3 UTSW 11 104665520 missense probably damaging 1.00
R5116:Itgb3 UTSW 11 104641077 missense probably benign 0.20
R5301:Itgb3 UTSW 11 104633654 splice site probably null
R5933:Itgb3 UTSW 11 104637979 missense possibly damaging 0.63
R6361:Itgb3 UTSW 11 104665582 missense possibly damaging 0.72
R6436:Itgb3 UTSW 11 104633492 missense probably damaging 0.99
R6452:Itgb3 UTSW 11 104633464 nonsense probably null
R7196:Itgb3 UTSW 11 104633612 nonsense probably null
R7438:Itgb3 UTSW 11 104643577 missense possibly damaging 0.90
Posted On2015-04-16