Incidental Mutation 'R5039:Itgb2l'
ID 395727
Institutional Source Beutler Lab
Gene Symbol Itgb2l
Ensembl Gene ENSMUSG00000000157
Gene Name integrin beta 2-like
Synonyms pactolus, 5033406G21Rik
MMRRC Submission 042629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5039 (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 96226205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 629 (T629A)
Ref Sequence ENSEMBL: ENSMUSP00000109403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000131567] [ENSMUST00000136292]
AlphaFold Q3UV74
Predicted Effect probably benign
Transcript: ENSMUST00000000161
AA Change: T629A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: T629A

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 possibly damaging
Transcript: ENSMUST00000113773
AA Change: T629A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: T629A

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 benign
Transcript: ENSMUST00000131567
SMART Domains Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157

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
Meta Mutation Damage Score 0.0867 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,192,863 (GRCm39) A161V probably damaging Het
Anapc2 T C 2: 25,164,808 (GRCm39) I64T possibly damaging Het
Arfgef1 T C 1: 10,269,961 (GRCm39) D396G probably benign Het
Ark2c A G 18: 77,550,608 (GRCm39) S107P probably damaging Het
Axl C T 7: 25,485,340 (GRCm39) V163M probably damaging Het
Blm G A 7: 80,155,621 (GRCm39) P353S possibly damaging Het
Btaf1 T C 19: 36,968,162 (GRCm39) Y1116H probably benign Het
Ccdc18 T A 5: 108,306,514 (GRCm39) probably null Het
Ccdc87 T C 19: 4,890,429 (GRCm39) probably null Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ctr9 C A 7: 110,642,064 (GRCm39) H297Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,734 (GRCm39) probably null Het
Dock4 C A 12: 40,867,745 (GRCm39) N1440K probably damaging Het
Etnk1 T A 6: 143,141,043 (GRCm39) probably null Het
Fam120a A T 13: 49,063,726 (GRCm39) probably null Het
Fanca T C 8: 124,010,785 (GRCm39) D908G probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3633 A C 14: 42,461,161 (GRCm39) N42K possibly damaging Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gpr139 A G 7: 118,744,165 (GRCm39) V140A probably benign Het
Ighv1-62-3 G T 12: 115,425,014 (GRCm39) T13K probably benign Het
Kcnb2 T C 1: 15,779,724 (GRCm39) S199P probably damaging Het
Kdm1b G A 13: 47,230,962 (GRCm39) G663D probably damaging Het
Lama1 A G 17: 68,052,888 (GRCm39) D407G possibly damaging Het
Macf1 T C 4: 123,405,013 (GRCm39) K391R probably damaging Het
Magi3 A T 3: 104,013,107 (GRCm39) S127T probably damaging Het
Map2 A T 1: 66,477,955 (GRCm39) D1759V probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myrfl T C 10: 116,658,616 (GRCm39) D447G probably damaging Het
Ndufb7 A G 8: 84,298,094 (GRCm39) probably benign Het
Nt5e T A 9: 88,245,634 (GRCm39) N301K probably benign Het
Or10d4b A T 9: 39,534,856 (GRCm39) T146S possibly damaging Het
Or8g27 T A 9: 39,129,410 (GRCm39) Y252* probably null Het
Pcdh10 A G 3: 45,336,296 (GRCm39) N870S probably damaging Het
Pcdh18 A G 3: 49,709,305 (GRCm39) V670A probably benign Het
Phf8-ps A C 17: 33,286,734 (GRCm39) C23G probably damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ric3 G C 7: 108,637,930 (GRCm39) S274R probably benign Het
Rimbp3 A G 16: 17,031,195 (GRCm39) T1540A probably damaging Het
Rp1l1 A T 14: 64,268,805 (GRCm39) M1464L probably benign Het
Slc41a3 A G 6: 90,603,399 (GRCm39) Y140C probably damaging Het
Ssb A T 2: 69,696,581 (GRCm39) E38D possibly damaging Het
Syt14 A T 1: 192,709,292 (GRCm39) I16N probably damaging Het
Tet3 T C 6: 83,352,878 (GRCm39) T973A probably damaging Het
Tial1 T C 7: 128,045,692 (GRCm39) probably benign Het
Tnfrsf1a A G 6: 125,337,675 (GRCm39) T89A possibly damaging Het
Trpv5 T C 6: 41,652,879 (GRCm39) Y98C possibly damaging Het
Ylpm1 T A 12: 85,062,267 (GRCm39) S265T probably damaging Het
Ylpm1 A G 12: 85,089,013 (GRCm39) D1006G probably damaging 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
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'- CCTTACCCATTGGAGAAGAGAC -3'
(R):5'- GCACCTTGCCCATTCATGTG -3'

Sequencing Primer
(F):5'- AGCCCTCTCGATATCTGCAGAG -3'
(R):5'- GCCCATTCATGTGGCATTTG -3'
Posted On 2016-06-21