Incidental Mutation 'R4254:Itgb2l'
ID 321750
Institutional Source Beutler Lab
Gene Symbol Itgb2l
Ensembl Gene ENSMUSG00000000157
Gene Name integrin beta 2-like
Synonyms pactolus, 5033406G21Rik
MMRRC Submission 041067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4254 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 96223488-96244819 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96231777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 330 (N330D)
Ref Sequence ENSEMBL: ENSMUSP00000114497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113795] [ENSMUST00000131567]
AlphaFold Q3UV74
PDB Structure PACTOLUS I-DOMAIN: FUNCTIONAL SWITCHING OF THE ROSSMANN FOLD [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000000161
AA Change: N330D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: N330D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF_like 24 63 3.95e1 SMART
PSI 24 74 2.88e-4 SMART
INB 32 419 7.05e-119 SMART
VWA 126 329 1.16e0 SMART
EGF_like 553 585 4.64e1 SMART
Integrin_B_tail 594 669 1.22e-9 SMART
transmembrane domain 672 694 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113773
AA Change: N330D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: N330D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF_like 24 63 3.95e1 SMART
PSI 24 74 2.88e-4 SMART
INB 32 419 7.05e-119 SMART
VWA 126 329 1.16e0 SMART
EGF_like 553 585 4.64e1 SMART
Integrin_B_tail 594 669 1.22e-9 SMART
transmembrane domain 672 694 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113795
SMART Domains Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131567
AA Change: N330D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: N330D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PSI 24 74 2.88e-4 SMART
INB 32 419 7.05e-119 SMART
VWA 126 329 1.16e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131777
Meta Mutation Damage Score 0.1156 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display normal leukocyte development and normal neutrophil recruitment to inflamed tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T G 8: 95,732,530 (GRCm39) probably null Het
Adgrg2 T G X: 159,265,404 (GRCm39) S551R possibly damaging Het
Anapc2 T C 2: 25,163,357 (GRCm39) V198A probably benign Het
Asxl3 T C 18: 22,657,423 (GRCm39) I1811T possibly damaging Het
Atp5mc3 A C 2: 73,740,319 (GRCm39) probably benign Het
Ccdc27 A C 4: 154,123,976 (GRCm39) S186A unknown Het
Ccdc28a A G 10: 18,100,683 (GRCm39) L48P probably damaging Het
Cdh19 C T 1: 110,852,760 (GRCm39) A392T probably damaging Het
Cfap65 T C 1: 74,942,517 (GRCm39) D1679G probably benign Het
Copa C T 1: 171,929,811 (GRCm39) R293C probably damaging Het
Depdc1a A G 3: 159,204,124 (GRCm39) R58G probably damaging Het
Dnah5 T A 15: 28,438,248 (GRCm39) S3960T probably benign Het
Dsg4 A T 18: 20,604,595 (GRCm39) T1021S probably benign Het
Hrh1 T A 6: 114,456,962 (GRCm39) M81K probably damaging Het
Ipo11 G A 13: 107,029,017 (GRCm39) T312I probably benign Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Kcnb1 A G 2: 166,947,651 (GRCm39) I399T probably damaging Het
Muc13 G A 16: 33,636,221 (GRCm39) M568I probably benign Het
Nlrp1a A C 11: 71,013,854 (GRCm39) Y465* probably null Het
Nwd2 G A 5: 63,963,889 (GRCm39) V1158I possibly damaging Het
Or2h1b A G 17: 37,462,530 (GRCm39) I111T possibly damaging Het
Or5d14 C T 2: 87,880,123 (GRCm39) V282I possibly damaging Het
Or8b101 T A 9: 38,020,546 (GRCm39) L183H probably damaging Het
Ptprr T A 10: 115,998,348 (GRCm39) probably null Het
Rasd2 G A 8: 75,948,538 (GRCm39) E155K probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serinc3 T A 2: 163,478,888 (GRCm39) M80L probably benign Het
Sf1 T C 19: 6,421,677 (GRCm39) V140A probably damaging Het
Slc15a2 A T 16: 36,574,852 (GRCm39) V519E probably benign Het
Slc16a10 A G 10: 39,952,997 (GRCm39) Y166H probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Smim29 A T 17: 27,784,696 (GRCm39) probably null Het
Tmbim1 C A 1: 74,333,090 (GRCm39) V92F probably damaging Het
Vsig4 C A X: 95,334,107 (GRCm39) R134L probably benign Het
Other mutations in Itgb2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Itgb2l APN 16 96,227,950 (GRCm39) missense probably damaging 0.98
IGL01482:Itgb2l APN 16 96,239,948 (GRCm39) missense probably damaging 0.99
IGL01767:Itgb2l APN 16 96,231,775 (GRCm39) missense probably benign 0.05
IGL02056:Itgb2l APN 16 96,228,889 (GRCm39) missense probably damaging 0.97
IGL02072:Itgb2l APN 16 96,231,808 (GRCm39) missense probably benign
IGL02858:Itgb2l APN 16 96,223,850 (GRCm39) missense possibly damaging 0.96
R0011:Itgb2l UTSW 16 96,228,861 (GRCm39) splice site probably benign
R0153:Itgb2l UTSW 16 96,238,569 (GRCm39) missense possibly damaging 0.94
R0270:Itgb2l UTSW 16 96,224,130 (GRCm39) unclassified probably benign
R0496:Itgb2l UTSW 16 96,235,901 (GRCm39) missense possibly damaging 0.86
R0627:Itgb2l UTSW 16 96,224,111 (GRCm39) unclassified probably benign
R1185:Itgb2l UTSW 16 96,230,240 (GRCm39) missense possibly damaging 0.90
R1185:Itgb2l UTSW 16 96,230,240 (GRCm39) missense possibly damaging 0.90
R1185:Itgb2l UTSW 16 96,230,240 (GRCm39) missense possibly damaging 0.90
R1509:Itgb2l UTSW 16 96,228,049 (GRCm39) missense probably benign 0.28
R1792:Itgb2l UTSW 16 96,226,282 (GRCm39) missense probably damaging 1.00
R1912:Itgb2l UTSW 16 96,228,135 (GRCm39) missense probably benign 0.17
R2210:Itgb2l UTSW 16 96,227,421 (GRCm39) missense possibly damaging 0.82
R3160:Itgb2l UTSW 16 96,238,589 (GRCm39) missense probably damaging 0.99
R3162:Itgb2l UTSW 16 96,238,589 (GRCm39) missense probably damaging 0.99
R3836:Itgb2l UTSW 16 96,227,367 (GRCm39) missense probably benign
R4131:Itgb2l UTSW 16 96,238,589 (GRCm39) missense probably damaging 0.99
R4132:Itgb2l UTSW 16 96,238,589 (GRCm39) missense probably damaging 0.99
R4854:Itgb2l UTSW 16 96,227,317 (GRCm39) nonsense probably null
R4893:Itgb2l UTSW 16 96,229,021 (GRCm39) missense probably benign 0.12
R4931:Itgb2l UTSW 16 96,238,649 (GRCm39) missense probably damaging 1.00
R5039:Itgb2l UTSW 16 96,226,205 (GRCm39) missense possibly damaging 0.69
R5055:Itgb2l UTSW 16 96,229,003 (GRCm39) missense probably damaging 1.00
R5960:Itgb2l UTSW 16 96,227,459 (GRCm39) missense probably benign 0.00
R6412:Itgb2l UTSW 16 96,228,929 (GRCm39) missense probably benign 0.04
R6966:Itgb2l UTSW 16 96,231,843 (GRCm39) missense probably benign 0.02
R7149:Itgb2l UTSW 16 96,234,759 (GRCm39) missense probably damaging 1.00
R7278:Itgb2l UTSW 16 96,230,243 (GRCm39) missense probably damaging 1.00
R7293:Itgb2l UTSW 16 96,227,996 (GRCm39) nonsense probably null
R7482:Itgb2l UTSW 16 96,228,033 (GRCm39) missense probably benign 0.01
R7570:Itgb2l UTSW 16 96,227,439 (GRCm39) missense probably benign 0.00
R7743:Itgb2l UTSW 16 96,238,608 (GRCm39) missense probably damaging 1.00
R7771:Itgb2l UTSW 16 96,228,172 (GRCm39) missense probably damaging 1.00
R8446:Itgb2l UTSW 16 96,233,857 (GRCm39) missense probably damaging 1.00
X0018:Itgb2l UTSW 16 96,236,876 (GRCm39) missense probably benign 0.01
Z1177:Itgb2l UTSW 16 96,238,556 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTCATGTTTCAGGGAGAGTC -3'
(R):5'- AGCATCATCCTAGCCACCTG -3'

Sequencing Primer
(F):5'- ACTCATGTTTCAGGGAGAGTCAGATG -3'
(R):5'- ATCCTAGCCACCTGGAGAGTTTAG -3'
Posted On 2015-06-20