Incidental Mutation 'R4537:Itgb2'
ID 333383
Institutional Source Beutler Lab
Gene Symbol Itgb2
Ensembl Gene ENSMUSG00000000290
Gene Name integrin beta 2
Synonyms Mac-1 beta, 2E6, Cd18
MMRRC Submission 041774-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R4537 (G1)
Quality Score 220
Status Validated
Chromosome 10
Chromosomal Location 77366164-77401542 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 77397050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000000299
SMART Domains Protein: ENSMUSP00000000299
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
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
Meta Mutation Damage Score 0.9576 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b T A 13: 14,294,746 (GRCm39) Y9* probably null Het
Aspm T C 1: 139,402,041 (GRCm39) I1235T probably benign Het
Defb30 T C 14: 63,273,525 (GRCm39) I29M probably damaging Het
Dnajc13 CT C 9: 104,064,004 (GRCm39) probably benign Het
Dpy19l3 T C 7: 35,411,326 (GRCm39) T428A probably benign Het
Fam83b T C 9: 76,399,424 (GRCm39) T560A probably benign Het
Fnip2 A G 3: 79,373,021 (GRCm39) V1019A probably damaging Het
Fus A G 7: 127,575,087 (GRCm39) D268G probably damaging Het
Gm14412 T A 2: 177,006,352 (GRCm39) K514N probably benign Het
Gphn T C 12: 78,540,788 (GRCm39) L265P probably benign Het
Grm3 A G 5: 9,562,083 (GRCm39) M589T probably benign Het
Hoxa1 G T 6: 52,134,973 (GRCm39) Q77K probably benign Het
Ighv14-2 A G 12: 113,958,512 (GRCm39) C3R probably benign Het
Mrpl24 A C 3: 87,829,719 (GRCm39) K102Q probably benign Het
Ogfod2 C T 5: 124,252,591 (GRCm39) probably benign Het
Olig2 A G 16: 91,023,732 (GRCm39) I149V probably damaging Het
Or10g9 T A 9: 39,911,616 (GRCm39) K302N probably benign Het
Or56a3b T A 7: 104,776,227 (GRCm39) I84F probably damaging Het
Or7g19 T A 9: 18,856,526 (GRCm39) I194N possibly damaging Het
Oxr1 A G 15: 41,683,915 (GRCm39) Q515R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Slc25a12 T A 2: 71,105,450 (GRCm39) probably benign Het
Slc2a3 C A 6: 122,714,063 (GRCm39) G157V probably damaging Het
Slc5a4a C T 10: 76,013,929 (GRCm39) R379* probably null Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Srd5a3 G A 5: 76,297,798 (GRCm39) probably null Het
Tmtc1 C T 6: 148,164,280 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn2r87 T G 10: 130,308,054 (GRCm39) H728P probably benign Het
Vmn2r93 T A 17: 18,525,194 (GRCm39) M284K possibly damaging Het
Zfp101 T A 17: 33,601,466 (GRCm39) M59L possibly damaging Het
Zfp558 T C 9: 18,368,798 (GRCm39) E146G probably null 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
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
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'- AGGGCCCTTTTGAGAAGAAC -3'
(R):5'- TTCATCTCCTCATACAGGGCCG -3'

Sequencing Primer
(F):5'- GGCCCTTTTGAGAAGAACTGTAG -3'
(R):5'- CTCATACAGGGCCGGGTAAG -3'
Posted On 2015-08-18