Incidental Mutation 'R1889:Itgb2'
ID 209839
Institutional Source Beutler Lab
Gene Symbol Itgb2
Ensembl Gene ENSMUSG00000000290
Gene Name integrin beta 2
Synonyms Mac-1 beta, 2E6, Cd18
MMRRC Submission 039910-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 77366164-77401542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77384457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 193 (N193Y)
Ref Sequence ENSEMBL: ENSMUSP00000137734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000299] [ENSMUST00000130059] [ENSMUST00000131023] [ENSMUST00000153541] [ENSMUST00000156644]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000000299
AA Change: N193Y

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: N193Y

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
AA Change: N115Y

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118191
Gene: ENSMUSG00000000290
AA Change: N115Y

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 possibly damaging
Transcript: ENSMUST00000153541
AA Change: N193Y

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: N193Y

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 0.1423 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTCACTGTCATGCCTGGAGC -3'
(R):5'- AACAGGGACAATGGCCTCAC -3'

Sequencing Primer
(F):5'- TCATGCCTGGAGCCCTGC -3'
(R):5'- CCGGACATGCAGCAACTTG -3'
Posted On 2014-06-30