Incidental Mutation 'R5960:Itgb2l'
ID 471440
Institutional Source Beutler Lab
Gene Symbol Itgb2l
Ensembl Gene ENSMUSG00000000157
Gene Name integrin beta 2-like
Synonyms pactolus, 5033406G21Rik
MMRRC Submission 044147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5960 (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 96227459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 528 (H528R)
Ref Sequence ENSEMBL: ENSMUSP00000000161 (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: H528R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: H528R

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: H528R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: H528R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 99% (71/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,528 (GRCm39) T30A possibly damaging Het
Adat1 T C 8: 112,709,233 (GRCm39) M197V probably benign Het
Alcam T C 16: 52,115,489 (GRCm39) T210A probably benign Het
Ankfy1 T A 11: 72,648,178 (GRCm39) S886R possibly damaging Het
Aopep G A 13: 63,388,087 (GRCm39) R22Q probably damaging Het
Atg2a T G 19: 6,304,390 (GRCm39) F1136V probably damaging Het
Birc6 A T 17: 74,835,760 (GRCm39) T72S probably damaging Het
Caskin1 A G 17: 24,717,869 (GRCm39) T219A probably benign Het
Catsperg1 A G 7: 28,884,208 (GRCm39) probably benign Het
Cdh12 A G 15: 21,492,562 (GRCm39) probably null Het
Cfap126 A G 1: 170,952,882 (GRCm39) D45G probably damaging Het
Ciz1 C A 2: 32,261,228 (GRCm39) Q356K possibly damaging Het
Ckmt1 T A 2: 121,194,058 (GRCm39) I407N probably damaging Het
Csmd1 C T 8: 16,121,430 (GRCm39) E1756K possibly damaging Het
Cwf19l2 A G 9: 3,411,404 (GRCm39) K94E probably benign Het
Cyth1 A G 11: 118,023,193 (GRCm39) probably benign Het
Ddx25 A G 9: 35,465,807 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock3 C A 9: 106,788,554 (GRCm39) G138* probably null Het
Fam20a G A 11: 109,566,795 (GRCm39) probably benign Het
Fanci A G 7: 79,093,510 (GRCm39) T1006A probably damaging Het
Fat1 T C 8: 45,486,405 (GRCm39) Y3320H probably damaging Het
Fndc8 A G 11: 82,788,398 (GRCm39) D76G probably benign Het
Gm19965 T C 1: 116,749,201 (GRCm39) I294T possibly damaging Het
Gm9755 T G 8: 67,967,840 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,878,113 (GRCm39) V879A possibly damaging Het
Ifi209 A T 1: 173,466,382 (GRCm39) probably null Het
Marf1 T C 16: 13,970,281 (GRCm39) Q146R probably damaging Het
Megf11 A G 9: 64,567,731 (GRCm39) T407A probably benign Het
Mtg1 T C 7: 139,726,906 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,402,724 (GRCm39) S1317A probably benign Het
Nhsl3 A G 4: 129,115,865 (GRCm39) V933A probably damaging Het
Nudt16 A T 9: 105,008,698 (GRCm39) C63S possibly damaging Het
Nup107 T C 10: 117,625,915 (GRCm39) I49V probably null Het
Or51a24 G T 7: 103,733,560 (GRCm39) N242K probably damaging Het
Or5m13 T A 2: 85,749,069 (GRCm39) S267T probably benign Het
Orc1 T C 4: 108,463,495 (GRCm39) S671P possibly damaging Het
Paox A G 7: 139,712,402 (GRCm39) D211G probably benign Het
Pck2 A G 14: 55,786,004 (GRCm39) T571A possibly damaging Het
Pigg A G 5: 108,484,160 (GRCm39) E469G probably benign Het
Pikfyve C A 1: 65,292,597 (GRCm39) Y1349* probably null Het
Prickle2 A G 6: 92,353,286 (GRCm39) F783L probably benign Het
Prpf40b G T 15: 99,212,785 (GRCm39) R627L probably damaging Het
Rasgrf1 A G 9: 89,903,437 (GRCm39) I1217V possibly damaging Het
Rbm26 A T 14: 105,387,751 (GRCm39) V457D probably damaging Het
Rex1bd C A 8: 70,959,156 (GRCm39) R49L probably null Het
Robo2 A T 16: 73,730,603 (GRCm39) L1003Q probably damaging Het
Sacs A G 14: 61,446,144 (GRCm39) D2730G probably benign Het
Setd6 T A 8: 96,442,827 (GRCm39) L88H probably damaging Het
Smim35 T C 9: 45,154,288 (GRCm39) Y50H probably damaging Het
Sncb A G 13: 54,910,795 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,225 (GRCm39) H985L probably benign Het
Spmap2 T G 10: 79,421,765 (GRCm39) K151T possibly damaging Het
Stard9 A G 2: 120,530,442 (GRCm39) E2233G probably benign Het
Susd2 C T 10: 75,475,770 (GRCm39) V410I probably damaging Het
Synm A G 7: 67,385,494 (GRCm39) S281P probably damaging Het
Syvn1 C T 19: 6,100,598 (GRCm39) R330C probably damaging Het
Tiam2 A T 17: 3,488,915 (GRCm39) D741V probably benign Het
Tph1 A G 7: 46,311,429 (GRCm39) probably null Het
Trav7-5 T A 14: 53,768,706 (GRCm39) H91Q probably benign Het
Tymp A T 15: 89,260,778 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A 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
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
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'- ATGGGTTGTAGGGACACTCAC -3'
(R):5'- TGCCCATCTATCCTTGCAAG -3'

Sequencing Primer
(F):5'- TGTAGGGACACTCACTAGTACTCG -3'
(R):5'- CATCTATCCTTGCAAGGTGTTG -3'
Posted On 2017-03-31