Incidental Mutation 'IGL00952:Itgb2l'
ID 29174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb2l
Ensembl Gene ENSMUSG00000000157
Gene Name integrin beta 2-like
Synonyms pactolus, 5033406G21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL00952
Quality Score
Status
Chromosome 16
Chromosomal Location 96223488-96244819 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96227950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 518 (G518S)
Ref Sequence ENSEMBL: ENSMUSP00000114497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000131567] [ENSMUST00000136292]
AlphaFold Q3UV74
PDB Structure PACTOLUS I-DOMAIN: FUNCTIONAL SWITCHING OF THE ROSSMANN FOLD [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000000161
AA Change: G518S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: G518S

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 damaging
Transcript: ENSMUST00000113773
AA Change: G518S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: G518S

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: ENSMUST00000113794
SMART Domains Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 127 9.63e-6 SMART
IG 134 221 2.64e0 SMART
transmembrane domain 239 261 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 damaging
Transcript: ENSMUST00000131567
AA Change: G518S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: G518S

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
Predicted Effect probably benign
Transcript: ENSMUST00000136292
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc47 A T 11: 106,094,358 (GRCm39) probably null Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Col8a2 A G 4: 126,203,584 (GRCm39) Y59C probably damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif17 A G 4: 137,990,019 (GRCm39) N69S possibly damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Klf6 A G 13: 5,911,680 (GRCm39) T15A probably benign Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mark4 T C 7: 19,165,749 (GRCm39) T515A possibly damaging Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5p81 A G 7: 108,267,445 (GRCm39) N274S possibly damaging Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Itgb2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4254:Itgb2l UTSW 16 96,231,777 (GRCm39) missense probably benign 0.00
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
Posted On 2013-04-17