Incidental Mutation 'IGL02590:Itgb2'
ID 299705
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02590
Quality Score
Status
Chromosome 10
Chromosomal Location 77366164-77401542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77395347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 483 (C483R)
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 damaging
Transcript: ENSMUST00000000299
AA Change: C483R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: C483R

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
SMART Domains Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,184,404 (GRCm39) F118S probably damaging Het
Adam5 T G 8: 25,234,151 (GRCm39) probably benign Het
Bok T C 1: 93,614,397 (GRCm39) probably benign Het
C1s1 C T 6: 124,508,235 (GRCm39) V585I possibly damaging Het
Chd2 C T 7: 73,102,948 (GRCm39) V1346I probably benign Het
Cyb5a A T 18: 84,889,732 (GRCm39) T54S probably benign Het
Dnah7b A T 1: 46,162,937 (GRCm39) T428S probably benign Het
Efhc1 T C 1: 21,037,608 (GRCm39) Y262H probably damaging Het
Fyb2 A T 4: 104,836,250 (GRCm39) I404F probably damaging Het
Glra2 T C X: 164,037,222 (GRCm39) N237S probably benign Het
Gypc A G 18: 32,663,060 (GRCm39) *96R probably null Het
Il15 T C 8: 83,069,912 (GRCm39) I51V probably benign Het
Kdr C T 5: 76,096,983 (GRCm39) D1272N probably benign Het
Kif14 C A 1: 136,423,742 (GRCm39) T969K probably benign Het
Klhl42 T C 6: 146,993,810 (GRCm39) S261P probably damaging Het
Lrp1 C A 10: 127,388,660 (GRCm39) G3263V probably damaging Het
Mid1 A G X: 168,710,019 (GRCm39) E5G probably damaging Het
Mmrn2 T A 14: 34,121,224 (GRCm39) L698* probably null Het
Myh14 T G 7: 44,273,503 (GRCm39) Q1393P probably damaging Het
Ncoa7 C T 10: 30,570,159 (GRCm39) E267K probably damaging Het
Obox5 T C 7: 15,491,517 (GRCm39) I19T possibly damaging Het
Or13a20 A G 7: 140,232,305 (GRCm39) probably null Het
Or8k22 A G 2: 86,163,344 (GRCm39) S119P possibly damaging Het
Pcnx1 A G 12: 82,041,752 (GRCm39) Y2128C probably damaging Het
Plcb1 A G 2: 135,136,784 (GRCm39) D293G probably benign Het
Prpf4b T C 13: 35,072,129 (GRCm39) probably benign Het
Psapl1 A T 5: 36,362,397 (GRCm39) T330S probably benign Het
Rap1gap A G 4: 137,447,611 (GRCm39) T453A probably damaging Het
Ric1 T A 19: 29,544,881 (GRCm39) probably benign Het
Robo1 A G 16: 72,840,020 (GRCm39) E1590G probably benign Het
Sorl1 C T 9: 41,957,857 (GRCm39) V596I probably benign Het
Tlr12 A G 4: 128,511,182 (GRCm39) I356T probably benign Het
Trav8d-2 T C 14: 53,279,906 (GRCm39) S8P possibly damaging Het
Tyms C A 5: 30,269,149 (GRCm39) V75L probably benign Het
Vmn1r230 T A 17: 21,067,172 (GRCm39) S120R probably damaging Het
Vmn2r84 T A 10: 130,227,356 (GRCm39) probably benign Het
Wdr27 C T 17: 15,138,041 (GRCm39) A388T 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
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
R3942:Itgb2 UTSW 10 77,393,867 (GRCm39) missense probably benign 0.31
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
Posted On 2015-04-16