Incidental Mutation 'R1792:Itgb2l'
ID 201874
Institutional Source Beutler Lab
Gene Symbol Itgb2l
Ensembl Gene ENSMUSG00000000157
Gene Name integrin beta 2-like
Synonyms pactolus, 5033406G21Rik
MMRRC Submission 039822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 96422288-96443619 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96425082 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 603 (C603F)
Ref Sequence ENSEMBL: ENSMUSP00000000161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000131567] [ENSMUST00000136292]
AlphaFold Q3UV74
Predicted Effect probably damaging
Transcript: ENSMUST00000000161
AA Change: C603F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: C603F

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: C603F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: C603F

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,184,044 (GRCm38) V1398I probably benign Het
Ackr3 A T 1: 90,214,898 (GRCm38) N360Y probably benign Het
Acr T G 15: 89,573,143 (GRCm38) M198R probably benign Het
Adamts14 A T 10: 61,218,498 (GRCm38) M585K probably benign Het
Adgrb3 A T 1: 25,228,471 (GRCm38) C853S probably damaging Het
Arhgef28 G T 13: 97,931,186 (GRCm38) S1410R probably benign Het
Armc4 T C 18: 7,286,743 (GRCm38) T163A probably benign Het
Asprv1 T A 6: 86,628,372 (GRCm38) F67I possibly damaging Het
Atp8b4 T A 2: 126,325,294 (GRCm38) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc36 A C 9: 108,404,912 (GRCm38) S526A possibly damaging Het
Ccdc57 T C 11: 120,897,881 (GRCm38) Q380R possibly damaging Het
Cdc45 A T 16: 18,807,340 (GRCm38) D142E probably benign Het
Cs A T 10: 128,360,079 (GRCm38) N386Y possibly damaging Het
Dsc3 A T 18: 19,986,998 (GRCm38) V201E probably damaging Het
Dusp26 G T 8: 31,091,935 (GRCm38) R19L probably benign Het
Esyt3 C A 9: 99,358,116 (GRCm38) E92* probably null Het
Ext2 T C 2: 93,704,545 (GRCm38) N625D probably damaging Het
Fam208b T C 13: 3,590,559 (GRCm38) K193E possibly damaging Het
Flvcr2 A T 12: 85,747,155 (GRCm38) K102* probably null Het
Fmnl2 T A 2: 53,042,317 (GRCm38) S103T possibly damaging Het
Fmo4 T A 1: 162,794,290 (GRCm38) I451F probably benign Het
Gak A T 5: 108,585,531 (GRCm38) Y47* probably null Het
Gbp10 A T 5: 105,224,300 (GRCm38) L198Q probably damaging Het
Gm11559 T A 11: 99,864,929 (GRCm38) S135T unknown Het
Gm14496 A T 2: 181,996,153 (GRCm38) D340V probably benign Het
Grin2a T C 16: 9,992,395 (GRCm38) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,366,936 (GRCm38) probably null Het
Herc4 T A 10: 63,245,901 (GRCm38) M1K probably null Het
Hirip3 T A 7: 126,862,620 (GRCm38) V29E probably damaging Het
Hs3st5 A G 10: 36,832,724 (GRCm38) D85G probably benign Het
Htt T A 5: 34,907,199 (GRCm38) S2981T probably damaging Het
Il20ra G A 10: 19,759,636 (GRCm38) V542I probably damaging Het
Klhl41 A C 2: 69,670,802 (GRCm38) K202N probably benign Het
Lct G A 1: 128,327,942 (GRCm38) S121F possibly damaging Het
Lhx6 C T 2: 36,087,375 (GRCm38) G355D probably damaging Het
Limk2 A G 11: 3,358,236 (GRCm38) V121A probably benign Het
Med1 T G 11: 98,157,283 (GRCm38) K896Q probably damaging Het
Muc6 A G 7: 141,634,458 (GRCm38) F2789S probably benign Het
Nemf T A 12: 69,312,569 (GRCm38) Y997F probably damaging Het
Nrap A G 19: 56,379,158 (GRCm38) S296P probably benign Het
Nrxn1 T C 17: 90,588,824 (GRCm38) N961D probably damaging Het
Olfr220 T C 1: 174,448,737 (GRCm38) V38A probably benign Het
Olfr398 A C 11: 73,983,847 (GRCm38) S254A probably benign Het
Olfr777 A T 10: 129,269,243 (GRCm38) F27I probably benign Het
Parp14 G A 16: 35,856,760 (GRCm38) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm38) H247L probably damaging Het
Pkd1l3 T A 8: 109,632,605 (GRCm38) V866E probably damaging Het
Pla2g4e G A 2: 120,168,474 (GRCm38) P803L probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm38) V217A possibly damaging Het
Pole4 G T 6: 82,652,740 (GRCm38) P34T unknown Het
Pole4 G A 6: 82,652,739 (GRCm38) P34L unknown Het
Ptchd3 G A 11: 121,841,551 (GRCm38) W422* probably null Het
Rab1b C T 19: 5,100,485 (GRCm38) A167T probably benign Het
Rasal1 T C 5: 120,664,756 (GRCm38) M359T probably benign Het
Rexo4 T C 2: 26,960,236 (GRCm38) N310D probably benign Het
Rgma C T 7: 73,417,837 (GRCm38) T280M probably damaging Het
Rnaset2a A T 17: 8,145,576 (GRCm38) I43N probably damaging Het
Rtcb A T 10: 85,942,582 (GRCm38) V399E probably damaging Het
Scd4 T G 19: 44,337,574 (GRCm38) Y122* probably null Het
Sirt6 T C 10: 81,626,521 (GRCm38) I15V possibly damaging Het
Slamf8 A T 1: 172,587,959 (GRCm38) V104E possibly damaging Het
Slc12a4 A G 8: 105,951,843 (GRCm38) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm38) A207V possibly damaging Het
Slc6a21 T C 7: 45,280,731 (GRCm38) S185P probably benign Het
Smarcc2 A C 10: 128,463,871 (GRCm38) N135T probably damaging Het
Susd6 T C 12: 80,874,291 (GRCm38) S221P probably damaging Het
Syne1 C T 10: 5,040,975 (GRCm38) G8418D probably damaging Het
Tbc1d7 C T 13: 43,165,377 (GRCm38) V95I probably benign Het
Tcerg1l T C 7: 138,361,866 (GRCm38) D225G probably benign Het
Tfip11 A T 5: 112,329,397 (GRCm38) I82F possibly damaging Het
Tmem41a C T 16: 21,936,981 (GRCm38) G192S probably null Het
Trrap G A 5: 144,853,586 (GRCm38) A3619T possibly damaging Het
Tspoap1 G A 11: 87,765,881 (GRCm38) probably null Het
Wfdc21 T C 11: 83,747,057 (GRCm38) S11P probably benign Het
Zc2hc1b A T 10: 13,168,730 (GRCm38) V63E probably damaging Het
Other mutations in Itgb2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Itgb2l APN 16 96,426,750 (GRCm38) missense probably damaging 0.98
IGL01482:Itgb2l APN 16 96,438,748 (GRCm38) missense probably damaging 0.99
IGL01767:Itgb2l APN 16 96,430,575 (GRCm38) missense probably benign 0.05
IGL02056:Itgb2l APN 16 96,427,689 (GRCm38) missense probably damaging 0.97
IGL02072:Itgb2l APN 16 96,430,608 (GRCm38) missense probably benign
IGL02858:Itgb2l APN 16 96,422,650 (GRCm38) missense possibly damaging 0.96
R0011:Itgb2l UTSW 16 96,427,661 (GRCm38) splice site probably benign
R0153:Itgb2l UTSW 16 96,437,369 (GRCm38) missense possibly damaging 0.94
R0270:Itgb2l UTSW 16 96,422,930 (GRCm38) unclassified probably benign
R0496:Itgb2l UTSW 16 96,434,701 (GRCm38) missense possibly damaging 0.86
R0627:Itgb2l UTSW 16 96,422,911 (GRCm38) unclassified probably benign
R1185:Itgb2l UTSW 16 96,429,040 (GRCm38) missense possibly damaging 0.90
R1185:Itgb2l UTSW 16 96,429,040 (GRCm38) missense possibly damaging 0.90
R1185:Itgb2l UTSW 16 96,429,040 (GRCm38) missense possibly damaging 0.90
R1509:Itgb2l UTSW 16 96,426,849 (GRCm38) missense probably benign 0.28
R1912:Itgb2l UTSW 16 96,426,935 (GRCm38) missense probably benign 0.17
R2210:Itgb2l UTSW 16 96,426,221 (GRCm38) missense possibly damaging 0.82
R3160:Itgb2l UTSW 16 96,437,389 (GRCm38) missense probably damaging 0.99
R3162:Itgb2l UTSW 16 96,437,389 (GRCm38) missense probably damaging 0.99
R3836:Itgb2l UTSW 16 96,426,167 (GRCm38) missense probably benign
R4131:Itgb2l UTSW 16 96,437,389 (GRCm38) missense probably damaging 0.99
R4132:Itgb2l UTSW 16 96,437,389 (GRCm38) missense probably damaging 0.99
R4254:Itgb2l UTSW 16 96,430,577 (GRCm38) missense probably benign 0.00
R4854:Itgb2l UTSW 16 96,426,117 (GRCm38) nonsense probably null
R4893:Itgb2l UTSW 16 96,427,821 (GRCm38) missense probably benign 0.12
R4931:Itgb2l UTSW 16 96,437,449 (GRCm38) missense probably damaging 1.00
R5039:Itgb2l UTSW 16 96,425,005 (GRCm38) missense possibly damaging 0.69
R5055:Itgb2l UTSW 16 96,427,803 (GRCm38) missense probably damaging 1.00
R5960:Itgb2l UTSW 16 96,426,259 (GRCm38) missense probably benign 0.00
R6412:Itgb2l UTSW 16 96,427,729 (GRCm38) missense probably benign 0.04
R6966:Itgb2l UTSW 16 96,430,643 (GRCm38) missense probably benign 0.02
R7149:Itgb2l UTSW 16 96,433,559 (GRCm38) missense probably damaging 1.00
R7278:Itgb2l UTSW 16 96,429,043 (GRCm38) missense probably damaging 1.00
R7293:Itgb2l UTSW 16 96,426,796 (GRCm38) nonsense probably null
R7482:Itgb2l UTSW 16 96,426,833 (GRCm38) missense probably benign 0.01
R7570:Itgb2l UTSW 16 96,426,239 (GRCm38) missense probably benign 0.00
R7743:Itgb2l UTSW 16 96,437,408 (GRCm38) missense probably damaging 1.00
R7771:Itgb2l UTSW 16 96,426,972 (GRCm38) missense probably damaging 1.00
R8446:Itgb2l UTSW 16 96,432,657 (GRCm38) missense probably damaging 1.00
X0018:Itgb2l UTSW 16 96,435,676 (GRCm38) missense probably benign 0.01
Z1177:Itgb2l UTSW 16 96,437,356 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCAGAGTTCTTATCACCATG -3'
(R):5'- GCATCCTGACACACTCATGC -3'

Sequencing Primer
(F):5'- ACCTAGGCTCTCCTTTATGTAGATGG -3'
(R):5'- CATCTTTGCATAGTGCTGAGAC -3'
Posted On 2014-06-23