Incidental Mutation 'R3942:Itgb2'
ID 312904
Institutional Source Beutler Lab
Gene Symbol Itgb2
Ensembl Gene ENSMUSG00000000290
Gene Name integrin beta 2
Synonyms Mac-1 beta, 2E6, Cd18
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 77366164-77401542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77393867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 436 (T436A)
Ref Sequence ENSEMBL: ENSMUSP00000000299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000299] [ENSMUST00000153541] [ENSMUST00000156644]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000299
AA Change: T436A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: T436A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PSI 24 74 6.91e-7 SMART
INB 32 447 1.98e-268 SMART
VWA 126 357 1.25e-1 SMART
internal_repeat_1 459 509 7.99e-5 PROSPERO
EGF_like 535 574 6.81e1 SMART
Integrin_B_tail 622 701 5.53e-22 SMART
transmembrane domain 702 724 N/A INTRINSIC
Integrin_b_cyt 725 770 1.58e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153541
AA Change: T436A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: T436A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PSI 24 74 6.91e-7 SMART
INB 32 447 1.98e-268 SMART
VWA 126 357 1.25e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156644
SMART Domains Protein: ENSMUSP00000137865
Gene: ENSMUSG00000000290

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PDB:2P28|A 23 49 9e-12 PDB
Blast:PSI 24 49 2e-11 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Best3 T A 10: 116,824,579 (GRCm39) F15Y possibly damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Mpc1 T A 17: 8,507,420 (GRCm39) probably null Het
Or4c109 T A 2: 88,818,455 (GRCm39) L30F probably benign Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Spata31d1d T C 13: 59,875,276 (GRCm39) Q753R probably benign Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly damaging Het
Other mutations in Itgb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Itgb2 APN 10 77,393,240 (GRCm39) missense probably damaging 1.00
IGL00427:Itgb2 APN 10 77,393,790 (GRCm39) missense probably benign 0.13
IGL00500:Itgb2 APN 10 77,400,558 (GRCm39) missense probably damaging 1.00
IGL01019:Itgb2 APN 10 77,378,237 (GRCm39) missense possibly damaging 0.94
IGL01104:Itgb2 APN 10 77,383,028 (GRCm39) splice site probably null
IGL01111:Itgb2 APN 10 77,377,834 (GRCm39) missense probably damaging 0.98
IGL01574:Itgb2 APN 10 77,393,798 (GRCm39) missense possibly damaging 0.82
IGL02087:Itgb2 APN 10 77,395,530 (GRCm39) missense possibly damaging 0.94
IGL02132:Itgb2 APN 10 77,385,895 (GRCm39) missense probably damaging 1.00
IGL02325:Itgb2 APN 10 77,383,026 (GRCm39) missense probably damaging 1.00
IGL02505:Itgb2 APN 10 77,383,052 (GRCm39) missense probably damaging 1.00
IGL02590:Itgb2 APN 10 77,395,347 (GRCm39) missense probably damaging 1.00
IGL02735:Itgb2 APN 10 77,385,833 (GRCm39) missense possibly damaging 0.81
almondine UTSW 10 77,384,503 (GRCm39) missense probably damaging 1.00
barely UTSW 10 77,384,370 (GRCm39) splice site probably benign
fresh UTSW 10 77,391,995 (GRCm39) missense probably damaging 0.98
joker UTSW 10 77,549,849 (GRCm38) intron probably benign
newhome UTSW 10 77,395,515 (GRCm39) missense probably benign 0.00
nibbler UTSW 10 77,397,050 (GRCm39) critical splice donor site probably null
Only_just UTSW 10 77,385,802 (GRCm39) missense possibly damaging 0.80
salmonid UTSW 10 77,396,946 (GRCm39) missense probably benign
trout UTSW 10 77,401,022 (GRCm39) missense probably damaging 1.00
R0217:Itgb2 UTSW 10 77,384,370 (GRCm39) splice site probably benign
R0394:Itgb2 UTSW 10 77,378,309 (GRCm39) missense probably damaging 1.00
R0396:Itgb2 UTSW 10 77,397,023 (GRCm39) missense probably damaging 0.97
R1425:Itgb2 UTSW 10 77,383,130 (GRCm39) missense probably null 1.00
R1499:Itgb2 UTSW 10 77,381,987 (GRCm39) missense possibly damaging 0.62
R1542:Itgb2 UTSW 10 77,395,320 (GRCm39) missense probably benign
R1803:Itgb2 UTSW 10 77,400,624 (GRCm39) missense probably benign 0.15
R1889:Itgb2 UTSW 10 77,384,457 (GRCm39) missense possibly damaging 0.74
R2035:Itgb2 UTSW 10 77,383,033 (GRCm39) missense probably damaging 1.00
R2156:Itgb2 UTSW 10 77,396,082 (GRCm39) missense probably benign 0.01
R2374:Itgb2 UTSW 10 77,395,515 (GRCm39) missense probably benign 0.00
R3769:Itgb2 UTSW 10 77,385,802 (GRCm39) missense possibly damaging 0.80
R4352:Itgb2 UTSW 10 77,392,001 (GRCm39) missense probably benign 0.10
R4537:Itgb2 UTSW 10 77,397,050 (GRCm39) critical splice donor site probably null
R4600:Itgb2 UTSW 10 77,381,949 (GRCm39) missense probably benign
R4611:Itgb2 UTSW 10 77,385,884 (GRCm39) missense probably damaging 1.00
R4685:Itgb2 UTSW 10 77,385,937 (GRCm39) critical splice donor site probably null
R4717:Itgb2 UTSW 10 77,381,878 (GRCm39) nonsense probably null
R5068:Itgb2 UTSW 10 77,384,595 (GRCm39) missense probably damaging 1.00
R5297:Itgb2 UTSW 10 77,400,501 (GRCm39) missense probably damaging 1.00
R5355:Itgb2 UTSW 10 77,393,886 (GRCm39) missense probably benign
R5927:Itgb2 UTSW 10 77,381,868 (GRCm39) missense probably damaging 1.00
R6371:Itgb2 UTSW 10 77,384,431 (GRCm39) missense probably damaging 1.00
R6505:Itgb2 UTSW 10 77,395,507 (GRCm39) missense probably damaging 1.00
R7305:Itgb2 UTSW 10 77,384,398 (GRCm39) missense probably damaging 1.00
R7574:Itgb2 UTSW 10 77,395,992 (GRCm39) missense probably benign 0.18
R7606:Itgb2 UTSW 10 77,391,995 (GRCm39) missense probably damaging 0.98
R7772:Itgb2 UTSW 10 77,396,946 (GRCm39) missense probably benign
R7888:Itgb2 UTSW 10 77,400,478 (GRCm39) missense probably benign 0.00
R8716:Itgb2 UTSW 10 77,393,787 (GRCm39) missense probably damaging 0.99
R8933:Itgb2 UTSW 10 77,401,022 (GRCm39) missense probably damaging 1.00
R9082:Itgb2 UTSW 10 77,384,503 (GRCm39) missense probably damaging 1.00
R9479:Itgb2 UTSW 10 77,396,942 (GRCm39) missense probably benign 0.01
Z1176:Itgb2 UTSW 10 77,393,796 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAACATGTATCTGAGAGGGTG -3'
(R):5'- GCTGGCCACACCTACTTTAC -3'

Sequencing Primer
(F):5'- TGTATCTGAGAGGGTGGGCAAAG -3'
(R):5'- ACTTGAAGACATGTGGCTCAC -3'
Posted On 2015-04-30