Incidental Mutation 'R7293:Itgb2l'
ID 566591
Institutional Source Beutler Lab
Gene Symbol Itgb2l
Ensembl Gene ENSMUSG00000000157
Gene Name integrin beta 2-like
Synonyms pactolus, 5033406G21Rik
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7293 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 96223488-96244819 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 96227996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 502 (Y502*)
Ref Sequence ENSEMBL: ENSMUSP00000109403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000131567] [ENSMUST00000136292]
AlphaFold Q3UV74
Predicted Effect probably null
Transcript: ENSMUST00000000161
AA Change: Y502*
SMART Domains Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: Y502*

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 null
Transcript: ENSMUST00000113773
AA Change: Y502*
SMART Domains Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: Y502*

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 null
Transcript: ENSMUST00000131567
AA Change: Y502*
SMART Domains Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: Y502*

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 probably benign
Transcript: ENSMUST00000136292
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Acsl5 G T 19: 55,279,642 (GRCm39) W460L probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cc2d1b T C 4: 108,488,873 (GRCm39) F770L probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Copb1 A T 7: 113,818,837 (GRCm39) M827K probably damaging Het
Crocc C T 4: 140,770,867 (GRCm39) A351T probably benign Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pld1 C A 3: 28,141,435 (GRCm39) T666K probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Ulk4 T G 9: 121,084,190 (GRCm39) N427T probably damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V 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
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
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'- AACACTCATCTGTCCACCTG -3'
(R):5'- AAAGTGTGCCCATTCCAGGAG -3'

Sequencing Primer
(F):5'- GTCTGTCTTGCTGTTACACTCATTG -3'
(R):5'- GGAGAGATCCTTAGCACAGCTCTTC -3'
Posted On 2019-06-26