Incidental Mutation 'R5116:Itgb3'
ID 394210
Institutional Source Beutler Lab
Gene Symbol Itgb3
Ensembl Gene ENSMUSG00000020689
Gene Name integrin beta 3
Synonyms platelet glycoprotein IIIa (GP3A), CD61
MMRRC Submission 042704-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R5116 (G1)
Quality Score 175
Status Validated
Chromosome 11
Chromosomal Location 104498826-104561302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104531903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 370 (V370A)
Ref Sequence ENSEMBL: ENSMUSP00000021028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021028]
AlphaFold O54890
Predicted Effect probably benign
Transcript: ENSMUST00000021028
AA Change: V370A

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: V370A

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 0.2517 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.5%
Validation Efficiency 97% (59/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,216,930 (GRCm39) H429R probably damaging Het
Adam39 G T 8: 41,278,038 (GRCm39) C143F probably damaging Het
Adamts19 T C 18: 59,036,066 (GRCm39) V417A possibly damaging Het
Adcy10 C A 1: 165,347,069 (GRCm39) A362E probably damaging Het
Akap6 A G 12: 53,188,298 (GRCm39) E1904G probably benign Het
Aldh18a1 A G 19: 40,541,949 (GRCm39) M89T probably benign Het
Alyref G T 11: 120,488,554 (GRCm39) F91L probably benign Het
Capn3 G T 2: 120,315,773 (GRCm39) M248I probably benign Het
Catsper4 A T 4: 133,953,991 (GRCm39) I56N probably damaging Het
Cckbr T A 7: 105,082,862 (GRCm39) I75N probably damaging Het
Ccr8 T C 9: 119,923,095 (GRCm39) I70T probably benign Het
Cdh24 T C 14: 54,873,870 (GRCm39) D428G probably benign Het
Cdk5rap2 G T 4: 70,225,475 (GRCm39) Q557K possibly damaging Het
Clip1 C T 5: 123,768,770 (GRCm39) A610T probably benign Het
Dnajc16 A T 4: 141,495,280 (GRCm39) Y479* probably null Het
Fpr-rs3 A G 17: 20,844,562 (GRCm39) V193A probably benign Het
Gm29125 T C 1: 80,361,690 (GRCm39) noncoding transcript Het
H1f4 A G 13: 23,806,270 (GRCm39) Y71H probably damaging Het
Ifi208 A G 1: 173,505,549 (GRCm39) probably benign Het
Immp1l G A 2: 105,795,640 (GRCm39) R155H probably benign Het
Itgad C A 7: 127,803,065 (GRCm39) T7K probably damaging Het
Jak1 A G 4: 101,012,310 (GRCm39) I1053T probably benign Het
Kif21b A G 1: 136,080,521 (GRCm39) R572G probably damaging Het
Lama2 A T 10: 26,994,556 (GRCm39) D1784E probably benign Het
Ltbp2 A T 12: 84,856,511 (GRCm39) V651D probably damaging Het
Mrpl47 A G 3: 32,787,750 (GRCm39) L100S probably damaging Het
Mx1 T G 16: 97,258,679 (GRCm39) N6T possibly damaging Het
Nde1 T A 16: 14,001,351 (GRCm39) M133K probably benign Het
Nlrc5 T C 8: 95,208,488 (GRCm39) L778P probably damaging Het
Odad3 A G 9: 21,901,424 (GRCm39) *595Q probably null Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or5l13 G A 2: 87,779,873 (GRCm39) R235C probably benign Het
Or6c3b A G 10: 129,527,266 (GRCm39) S215P probably damaging Het
Or7g32 A G 9: 19,389,094 (GRCm39) S151P possibly damaging Het
Or8b38 T C 9: 37,972,634 (GRCm39) V6A probably benign Het
Otog T C 7: 45,923,191 (GRCm39) V1022A probably benign Het
Pcdhac1 G A 18: 37,224,500 (GRCm39) V438M probably damaging Het
Pcsk5 G A 19: 17,440,798 (GRCm39) S1264F possibly damaging Het
Pfas T C 11: 68,881,816 (GRCm39) probably benign Het
Pigr T A 1: 130,776,768 (GRCm39) F648I probably benign Het
Pla2r1 A C 2: 60,279,250 (GRCm39) Y777D probably damaging Het
Pnpla7 G T 2: 24,911,982 (GRCm39) G716V probably damaging Het
Rab11fip5 C T 6: 85,325,789 (GRCm39) E206K probably damaging Het
S100a10 A G 3: 93,468,247 (GRCm39) probably null Het
Slc35f1 T C 10: 52,897,991 (GRCm39) I134T probably benign Het
Smarcd1 C T 15: 99,600,369 (GRCm39) A56V probably benign Het
Snrk A G 9: 121,989,396 (GRCm39) T247A probably benign Het
Srgap1 A G 10: 121,628,284 (GRCm39) L896P possibly damaging Het
Tmem19 A T 10: 115,179,651 (GRCm39) F167I probably benign Het
Tmprss11f T C 5: 86,687,555 (GRCm39) S118G probably benign Het
Tnc A G 4: 63,885,452 (GRCm39) probably null Het
Trem3 T C 17: 48,556,580 (GRCm39) L17P probably benign Het
Upp2 A G 2: 58,661,554 (GRCm39) Y67C probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Zfp932 T A 5: 110,157,242 (GRCm39) D280E 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
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
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
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'- GATACTTCACAGTGCCCTCC -3'
(R):5'- AAGGTCCTATTATGTTCAGTCCCC -3'

Sequencing Primer
(F):5'- GGTGCATGTCATTAATCCCAG -3'
(R):5'- GTATCTAATATTCTCCCACCCACAGG -3'
Posted On 2016-06-15