Incidental Mutation 'R4611:Itgb2'
ID 344737
Institutional Source Beutler Lab
Gene Symbol Itgb2
Ensembl Gene ENSMUSG00000000290
Gene Name integrin beta 2
Synonyms Mac-1 beta, 2E6, Cd18
MMRRC Submission 041822-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R4611 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 77366164-77401542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77385884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 282 (N282K)
Ref Sequence ENSEMBL: ENSMUSP00000000299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000299] [ENSMUST00000130059] [ENSMUST00000131023] [ENSMUST00000153541] [ENSMUST00000156644]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000299
AA Change: N282K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: N282K

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: ENSMUST00000130059
SMART Domains Protein: ENSMUSP00000118191
Gene: ENSMUSG00000000290

DomainStartEndE-ValueType
INB 1 130 2.21e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131023
SMART Domains Protein: ENSMUSP00000119657
Gene: ENSMUSG00000000290

DomainStartEndE-ValueType
Pfam:Integrin_beta 2 54 7.1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153541
AA Change: N282K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: N282K

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,259 (GRCm39) R200C probably benign Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Aoc1l1 A T 6: 48,952,090 (GRCm39) Q5L probably benign Het
Apc T C 18: 34,451,618 (GRCm39) L2804P probably damaging Het
Apob C A 12: 8,061,331 (GRCm39) A3271E probably damaging Het
Asl G T 5: 130,047,157 (GRCm39) A147E probably damaging Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Bcl11b T C 12: 107,882,789 (GRCm39) K509E probably damaging Het
Btnl1 T C 17: 34,598,699 (GRCm39) I105T probably damaging Het
Btnl10 A G 11: 58,811,183 (GRCm39) T169A probably damaging Het
C8b T C 4: 104,647,841 (GRCm39) I278T probably damaging Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd8b1 T C 6: 71,309,459 (GRCm39) V181A probably benign Het
Cdan1 A T 2: 120,561,201 (GRCm39) V189D probably damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cfap52 T C 11: 67,817,247 (GRCm39) N549D probably damaging Het
Cmklr1 C T 5: 113,752,930 (GRCm39) V24M probably benign Het
Cntnap4 G T 8: 113,500,371 (GRCm39) probably null Het
Col27a1 G A 4: 63,211,743 (GRCm39) G91R probably damaging Het
Col5a3 A G 9: 20,726,192 (GRCm39) probably benign Het
Dcc C T 18: 71,682,069 (GRCm39) probably null Het
Deaf1 T A 7: 140,890,884 (GRCm39) T433S possibly damaging Het
Dnah8 T A 17: 30,903,211 (GRCm39) L950H probably damaging Het
Dnajc7 A T 11: 100,481,803 (GRCm39) Y228* probably null Het
Eno1b T C 18: 48,180,770 (GRCm39) V316A probably damaging Het
Exoc4 T C 6: 33,415,340 (GRCm39) M404T possibly damaging Het
Fignl1 A T 11: 11,751,268 (GRCm39) C596S probably benign Het
Fn1 A C 1: 71,663,337 (GRCm39) Y1050* probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gba2 T A 4: 43,568,092 (GRCm39) S732C probably damaging Het
Gcnt4 C A 13: 97,082,990 (GRCm39) S95R probably benign Het
Gpr37 A G 6: 25,669,623 (GRCm39) V407A probably benign Het
Gria2 A T 3: 80,599,799 (GRCm39) M695K probably damaging Het
Hoxa9 T C 6: 52,202,690 (GRCm39) K132R probably damaging Het
Ifi213 T A 1: 173,417,480 (GRCm39) T311S possibly damaging Het
Kcnh8 A T 17: 52,909,864 (GRCm39) Q11L probably benign Het
Klk14 T C 7: 43,343,781 (GRCm39) C163R probably damaging Het
Klk1b3 T A 7: 43,850,689 (GRCm39) W74R possibly damaging Het
Krtap13-1 G T 16: 88,526,142 (GRCm39) C122F possibly damaging Het
Luzp2 T C 7: 54,713,104 (GRCm39) probably null Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtor T A 4: 148,570,576 (GRCm39) V1211E probably benign Het
Myb T A 10: 21,021,223 (GRCm39) D402V probably damaging Het
Ncor2 G A 5: 125,107,923 (GRCm39) T1593I probably damaging Het
Ndst3 A G 3: 123,465,198 (GRCm39) I258T probably benign Het
Npy6r C A 18: 44,409,468 (GRCm39) H296Q probably damaging Het
Olfml2b T A 1: 170,472,516 (GRCm39) L9H probably damaging Het
Or10a3n A G 7: 108,493,324 (GRCm39) C97R probably damaging Het
Or1a1b A T 11: 74,097,361 (GRCm39) V227D possibly damaging Het
Or2w2 A T 13: 21,757,744 (GRCm39) V294D probably damaging Het
Or4k15 C A 14: 50,364,530 (GRCm39) N165K probably benign Het
Or5b119 C T 19: 13,457,376 (GRCm39) C62Y probably damaging Het
Or5b94 T A 19: 12,652,318 (GRCm39) Y250N probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Or8b8 T A 9: 37,809,622 (GRCm39) S307R probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Parg G A 14: 31,996,821 (GRCm39) R304Q probably damaging Het
Pdf T G 8: 107,775,167 (GRCm39) S22R probably benign Het
Phlpp2 A T 8: 110,603,515 (GRCm39) R60S possibly damaging Het
Piwil2 C T 14: 70,639,646 (GRCm39) E401K probably benign Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Polr3a T C 14: 24,502,576 (GRCm39) probably null Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Ptch2 G A 4: 116,967,575 (GRCm39) D748N probably benign Het
Rai14 A C 15: 10,592,224 (GRCm39) Y224D probably damaging Het
Rft1 A G 14: 30,411,747 (GRCm39) I432V probably damaging Het
Rictor C T 15: 6,816,625 (GRCm39) A1299V possibly damaging Het
Sall2 A G 14: 52,551,210 (GRCm39) C662R probably damaging Het
Scn4b A G 9: 45,061,737 (GRCm39) N208D probably damaging Het
Sdhb G A 4: 140,700,226 (GRCm39) G109R probably damaging Het
Sec16a A G 2: 26,331,817 (GRCm39) V66A probably benign Het
Sema4g A G 19: 44,990,051 (GRCm39) Y710C probably damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Shc4 T A 2: 125,497,602 (GRCm39) D369V probably benign Het
Siglech T C 7: 55,421,441 (GRCm39) L285P probably damaging Het
Skint6 A G 4: 112,931,273 (GRCm39) M506T probably benign Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Slfn14 T A 11: 83,174,140 (GRCm39) K284* probably null Het
Sox14 A G 9: 99,757,715 (GRCm39) I8T probably damaging Het
Srpk3 A G X: 72,818,547 (GRCm39) H79R possibly damaging Het
Tdpoz3 A T 3: 93,734,330 (GRCm39) H335L probably damaging Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tnik T C 3: 28,596,249 (GRCm39) probably null Het
Tnpo2 T C 8: 85,780,432 (GRCm39) S720P probably benign Het
Tpst1 A G 5: 130,130,547 (GRCm39) K6E probably damaging Het
Trank1 T A 9: 111,191,329 (GRCm39) I446N probably damaging Het
Trmt44 A T 5: 35,732,351 (GRCm39) D13E probably benign Het
Ubr4 T A 4: 139,126,890 (GRCm39) V471E possibly damaging Het
Ubtd1 A G 19: 42,022,030 (GRCm39) T101A probably benign Het
Ugt3a1 A T 15: 9,306,486 (GRCm39) K212* probably null Het
Zbtb7c C T 18: 76,269,918 (GRCm39) A2V possibly damaging Het
Zfp423 C T 8: 88,414,709 (GRCm39) G1182D possibly damaging Het
Zfp618 G A 4: 63,051,216 (GRCm39) V666M probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
Zscan20 T C 4: 128,481,899 (GRCm39) T588A probably benign Het
Zscan25 G A 5: 145,227,926 (GRCm39) R530H probably 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
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
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'- ACACAACTCTTCTCCCCTGAGG -3'
(R):5'- CATGTTATCACCAGGGTCTCTG -3'

Sequencing Primer
(F):5'- CCCTGAGGGCCCCATGG -3'
(R):5'- AGGGTCTCTGGGACTGCATC -3'
Posted On 2015-09-25