Incidental Mutation 'R2225:Itgb3'
ID 239687
Institutional Source Beutler Lab
Gene Symbol Itgb3
Ensembl Gene ENSMUSG00000020689
Gene Name integrin beta 3
Synonyms platelet glycoprotein IIIa (GP3A), CD61
MMRRC Submission 040226-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R2225 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 104498826-104561302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104556336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 726 (M726V)
Ref Sequence ENSEMBL: ENSMUSP00000021028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021028]
AlphaFold O54890
Predicted Effect probably benign
Transcript: ENSMUST00000021028
AA Change: M726V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: M726V

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 0.0595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Akap9 A T 5: 4,127,271 (GRCm39) R3706S probably damaging Het
Btd A G 14: 31,389,017 (GRCm39) D246G probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep152 T C 2: 125,423,704 (GRCm39) E899G probably damaging Het
Cpsf6 A T 10: 117,198,941 (GRCm39) probably benign Het
Crybg3 A G 16: 59,375,041 (GRCm39) I2071T probably damaging Het
Cwc22 T A 2: 77,738,495 (GRCm39) probably benign Het
Ddah2 T A 17: 35,279,187 (GRCm39) I16N probably damaging Het
Dld T G 12: 31,391,448 (GRCm39) M123L probably benign Het
Eif5b A T 1: 38,058,304 (GRCm39) K202I unknown Het
Gm6430 T C 1: 96,953,441 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Hspa4 C T 11: 53,177,760 (GRCm39) V117M probably benign Het
Htra4 T C 8: 25,515,736 (GRCm39) D434G probably benign Het
Itih1 A G 14: 30,651,534 (GRCm39) V886A possibly damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Limk1 G T 5: 134,690,410 (GRCm39) probably null Het
Lonrf1 T C 8: 36,703,252 (GRCm39) D308G probably damaging Het
Muc4 A T 16: 32,576,265 (GRCm39) probably benign Het
Muc4 G A 16: 32,587,316 (GRCm39) C2719Y possibly damaging Het
Mvb12b G A 2: 33,730,211 (GRCm39) T60I possibly damaging Het
Myh2 C T 11: 67,084,555 (GRCm39) T1698M probably benign Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Or10d5 T C 9: 39,861,833 (GRCm39) K78R possibly damaging Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or8g33 T C 9: 39,337,915 (GRCm39) I151V probably benign Het
Plekhg2 G A 7: 28,059,760 (GRCm39) P1190S probably benign Het
Reck A G 4: 43,922,837 (GRCm39) T371A probably benign Het
Rnf185 T C 11: 3,382,445 (GRCm39) D44G probably damaging Het
Rpgrip1l T C 8: 91,948,095 (GRCm39) E1196G probably benign Het
Rundc1 A G 11: 101,322,170 (GRCm39) probably benign Het
Sf3b3 T C 8: 111,541,205 (GRCm39) Y970C probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Shprh T C 10: 11,037,979 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tbxa2r A G 10: 81,168,983 (GRCm39) Y224C probably benign Het
Tlr5 A G 1: 182,799,941 (GRCm39) probably benign Het
Tmem270 A G 5: 134,935,492 (GRCm39) L21P probably damaging Het
Tmtc2 T C 10: 105,206,218 (GRCm39) E359G probably benign Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 A G 7: 46,314,598 (GRCm39) probably null Het
Wiz C T 17: 32,575,899 (GRCm39) V836M probably damaging Het
Zfp451 T A 1: 33,809,988 (GRCm39) probably benign Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably damaging 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
R0125:Itgb3 UTSW 11 104,534,789 (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
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'- CTGAATGGGTTAGGTTCAGCCG -3'
(R):5'- TCATGAACCAAAGACTCCGGAG -3'

Sequencing Primer
(F):5'- GATGACTGCTGTCCTAAAGATTGTCC -3'
(R):5'- TCCGGAGAACTCAAAGCTCAG -3'
Posted On 2014-10-15