Incidental Mutation 'R5109:Itgam'
ID 393743
Institutional Source Beutler Lab
Gene Symbol Itgam
Ensembl Gene ENSMUSG00000030786
Gene Name integrin alpha M
Synonyms Mac-1, complement receptor type 3, Ly-40, Mac-1 alpha, CD11B (p170), Cd11b, Mac-1a, CD11b/CD18, complement component receptor 3 alpha, F730045J24Rik, CR3
MMRRC Submission 042697-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5109 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127661812-127717663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127712390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 846 (V846I)
Ref Sequence ENSEMBL: ENSMUSP00000113957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: V846I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Int_alpha 30 80 8.11e0 SMART
VWA 148 333 2.63e-49 SMART
Int_alpha 400 449 1.07e1 SMART
Int_alpha 453 510 1.48e-7 SMART
Int_alpha 516 572 4.9e-13 SMART
Int_alpha 579 633 3.67e-3 SMART
low complexity region 849 855 N/A INTRINSIC
Pfam:Integrin_alpha 1130 1144 2.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098015
AA Change: V845I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: V845I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Int_alpha 30 80 8.11e0 SMART
VWA 148 333 2.63e-49 SMART
Int_alpha 400 449 1.07e1 SMART
Int_alpha 453 510 1.48e-7 SMART
Int_alpha 516 572 4.9e-13 SMART
Int_alpha 579 633 3.67e-3 SMART
low complexity region 849 855 N/A INTRINSIC
coiled coil region 1143 1170 N/A INTRINSIC
low complexity region 1178 1200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106240
AA Change: V728I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: V728I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Int_alpha 30 80 8.11e0 SMART
VWA 148 333 2.63e-49 SMART
Int_alpha 400 449 1.07e1 SMART
Int_alpha 462 516 3.67e-3 SMART
low complexity region 732 738 N/A INTRINSIC
Pfam:Integrin_alpha 1013 1027 3.9e-9 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: V845I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Int_alpha 30 80 8.11e0 SMART
VWA 148 333 2.63e-49 SMART
Int_alpha 400 449 1.07e1 SMART
Int_alpha 453 511 5.91e-7 SMART
Int_alpha 517 573 4.9e-13 SMART
Int_alpha 580 634 3.67e-3 SMART
low complexity region 850 856 N/A INTRINSIC
Pfam:Integrin_alpha 1131 1145 8.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120355
AA Change: V846I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: V846I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Int_alpha 30 80 8.11e0 SMART
VWA 148 333 2.63e-49 SMART
Int_alpha 400 449 1.07e1 SMART
Int_alpha 453 511 5.91e-7 SMART
Int_alpha 517 573 4.9e-13 SMART
Int_alpha 580 634 3.67e-3 SMART
low complexity region 850 856 N/A INTRINSIC
low complexity region 1141 1150 N/A INTRINSIC
Predicted Effect not run
Transcript: ENSMUST00000126475
AA Change: V756I
Predicted Effect probably benign
Transcript: ENSMUST00000134694
SMART Domains Protein: ENSMUSP00000117120
Gene: ENSMUSG00000108596

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 39 82 1.1e-9 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 95% (78/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice exhibit reduced staphylococcal enterotoxin- induced T cell proliferation, reduced neutrophil adhesion to fibrinogen, and defective homotypic aggregation and reduced degranulation of neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T C 5: 90,391,395 (GRCm39) S1841G possibly damaging Het
Anxa10 T C 8: 62,516,093 (GRCm39) E193G possibly damaging Het
Ap3d1 T C 10: 80,545,284 (GRCm39) S1056G probably benign Het
Apbb1 T C 7: 105,214,242 (GRCm39) N62D probably damaging Het
Apobec2 A T 17: 48,730,022 (GRCm39) Y215N probably damaging Het
Apobec2 T A 17: 48,730,024 (GRCm39) Y214F probably damaging Het
Appl2 A T 10: 83,436,871 (GRCm39) V630E probably benign Het
Bud23 T C 5: 135,089,877 (GRCm39) probably benign Het
Cacna1b A T 2: 24,580,797 (GRCm39) M683K possibly damaging Het
Cbfa2t2 T A 2: 154,373,293 (GRCm39) D187E probably damaging Het
Cfap54 G T 10: 92,773,753 (GRCm39) F96L probably benign Het
Cimap1a A T 7: 140,429,461 (GRCm39) S197C probably benign Het
Crebbp A G 16: 3,906,295 (GRCm39) probably benign Het
Crocc C T 4: 140,755,722 (GRCm39) R1102Q probably damaging Het
Dcaf12 T C 4: 41,298,329 (GRCm39) D273G possibly damaging Het
Dchs1 T C 7: 105,414,221 (GRCm39) T865A probably benign Het
Dhfr A T 13: 92,491,788 (GRCm39) I8F probably damaging Het
Dnaja2 A T 8: 86,279,887 (GRCm39) F97L possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Doc2b T C 11: 75,667,967 (GRCm39) D261G probably benign Het
Ear1 A G 14: 44,056,485 (GRCm39) Y128H probably benign Het
Elac2 T A 11: 64,883,142 (GRCm39) I171N probably damaging Het
Entpd3 C A 9: 120,395,380 (GRCm39) N454K possibly damaging Het
Flrt3 A G 2: 140,502,663 (GRCm39) S322P possibly damaging Het
Fn1 C T 1: 71,688,394 (GRCm39) C170Y probably damaging Het
Gabbr1 T A 17: 37,382,920 (GRCm39) probably benign Het
Gm7247 T G 14: 51,602,774 (GRCm39) S37A probably damaging Het
Gm8775 T A 3: 4,277,008 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gria4 A C 9: 4,472,168 (GRCm39) N440K probably damaging Het
H2-T22 T A 17: 36,350,113 (GRCm39) R334* probably null Het
Ift172 T C 5: 31,423,330 (GRCm39) D817G probably benign Het
Igkv9-124 T A 6: 67,919,348 (GRCm39) R21S possibly damaging Het
Kif11 T A 19: 37,373,063 (GRCm39) M94K possibly damaging Het
Krtcap2 T C 3: 89,154,085 (GRCm39) V2A probably benign Het
Lrrc47 A G 4: 154,101,933 (GRCm39) D400G probably damaging Het
Man2a1 T A 17: 65,059,443 (GRCm39) V1110E probably benign Het
Mfsd9 T A 1: 40,813,365 (GRCm39) I317F probably damaging Het
Mindy4 A T 6: 55,193,730 (GRCm39) probably null Het
Mrpl53 A G 6: 83,086,541 (GRCm39) T82A probably damaging Het
Myo3b A G 2: 69,925,637 (GRCm39) K35E possibly damaging Het
Nalcn A G 14: 123,515,650 (GRCm39) V1717A possibly damaging Het
Ncoa2 A G 1: 13,257,070 (GRCm39) V143A probably damaging Het
Ndufa9 A C 6: 126,809,520 (GRCm39) probably null Het
Or10ag60 G A 2: 87,438,319 (GRCm39) G196R possibly damaging Het
Or10ag60 G A 2: 87,437,755 (GRCm39) A8T possibly damaging Het
Or12e9 A G 2: 87,201,878 (GRCm39) M1V probably null Het
Or5k17 A G 16: 58,746,422 (GRCm39) S171P probably benign Het
Or5p55 T C 7: 107,567,104 (GRCm39) S167P probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or7g28 A T 9: 19,272,438 (GRCm39) I71N probably damaging Het
Or9g8 G A 2: 85,607,668 (GRCm39) V247M probably damaging Het
Pde4b G T 4: 102,458,741 (GRCm39) A466S probably damaging Het
Pfkfb3 A T 2: 11,491,162 (GRCm39) probably benign Het
Ppp1r21 A G 17: 88,866,268 (GRCm39) K355E probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbms1 G A 2: 60,612,284 (GRCm39) L161F probably damaging Het
Rdh16f2 A G 10: 127,702,672 (GRCm39) D83G probably damaging Het
Sec16b C T 1: 157,392,361 (GRCm39) R910* probably null Het
Sema4c CTGGGCTT C 1: 36,591,381 (GRCm39) probably null Het
Spata31e5 T C 1: 28,816,636 (GRCm39) I465M possibly damaging Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,558 (GRCm39) N82S probably damaging Het
Tlr2 A T 3: 83,745,030 (GRCm39) V351D probably damaging Het
Tmem39a G A 16: 38,411,326 (GRCm39) G359D probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r17 C A 5: 109,577,342 (GRCm39) F464L probably benign Het
Vmn2r49 T A 7: 9,710,204 (GRCm39) T843S probably benign Het
Vmn2r7 T C 3: 64,598,088 (GRCm39) D823G probably null Het
Wrnip1 T A 13: 33,000,319 (GRCm39) L442Q probably damaging Het
Zbtb38 G T 9: 96,569,062 (GRCm39) S674Y probably damaging Het
Zfp639 T G 3: 32,574,585 (GRCm39) probably null Het
Other mutations in Itgam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Itgam APN 7 127,684,833 (GRCm39) missense probably damaging 1.00
IGL00983:Itgam APN 7 127,667,839 (GRCm39) missense probably damaging 0.97
IGL01102:Itgam APN 7 127,679,445 (GRCm39) missense possibly damaging 0.94
IGL01615:Itgam APN 7 127,715,939 (GRCm39) missense possibly damaging 0.80
IGL01845:Itgam APN 7 127,711,644 (GRCm39) missense probably damaging 1.00
IGL01860:Itgam APN 7 127,670,115 (GRCm39) missense probably benign 0.03
IGL01874:Itgam APN 7 127,714,338 (GRCm39) missense probably damaging 0.97
IGL01910:Itgam APN 7 127,682,948 (GRCm39) missense probably damaging 1.00
IGL01994:Itgam APN 7 127,700,899 (GRCm39) missense probably damaging 0.97
IGL02332:Itgam APN 7 127,684,846 (GRCm39) critical splice donor site probably null
IGL02348:Itgam APN 7 127,715,472 (GRCm39) missense possibly damaging 0.52
IGL02394:Itgam APN 7 127,684,114 (GRCm39) missense probably benign 0.01
IGL02491:Itgam APN 7 127,715,190 (GRCm39) missense possibly damaging 0.71
IGL02695:Itgam APN 7 127,685,113 (GRCm39) missense possibly damaging 0.81
IGL02821:Itgam APN 7 127,675,281 (GRCm39) missense probably damaging 0.99
IGL02970:Itgam APN 7 127,685,215 (GRCm39) missense probably benign 0.00
IGL03145:Itgam APN 7 127,712,191 (GRCm39) missense probably benign 0.12
adhesion UTSW 7 127,700,709 (GRCm39) missense probably damaging 0.99
apparition UTSW 7 127,711,458 (GRCm39) splice site probably null
attachment UTSW 7 127,712,205 (GRCm39) missense probably damaging 1.00
Follower UTSW 7 127,679,436 (GRCm39) missense probably damaging 1.00
invisible UTSW 7 127,669,875 (GRCm39) splice site probably null
obscured UTSW 7 127,680,806 (GRCm39) missense probably damaging 1.00
R0184:Itgam UTSW 7 127,685,230 (GRCm39) missense probably damaging 0.96
R0389:Itgam UTSW 7 127,680,806 (GRCm39) missense probably damaging 1.00
R0443:Itgam UTSW 7 127,680,806 (GRCm39) missense probably damaging 1.00
R0454:Itgam UTSW 7 127,707,152 (GRCm39) missense probably benign 0.01
R0674:Itgam UTSW 7 127,715,390 (GRCm39) missense possibly damaging 0.67
R0828:Itgam UTSW 7 127,715,677 (GRCm39) critical splice donor site probably null
R0925:Itgam UTSW 7 127,711,410 (GRCm39) missense probably benign 0.00
R1086:Itgam UTSW 7 127,679,436 (GRCm39) missense probably damaging 1.00
R1655:Itgam UTSW 7 127,714,335 (GRCm39) missense probably benign 0.00
R1809:Itgam UTSW 7 127,670,109 (GRCm39) missense possibly damaging 0.62
R1823:Itgam UTSW 7 127,663,904 (GRCm39) missense probably benign 0.04
R2105:Itgam UTSW 7 127,680,884 (GRCm39) missense probably damaging 1.00
R2154:Itgam UTSW 7 127,684,749 (GRCm39) missense probably damaging 0.99
R2656:Itgam UTSW 7 127,715,987 (GRCm39) missense probably null 1.00
R2913:Itgam UTSW 7 127,711,578 (GRCm39) missense probably damaging 1.00
R3116:Itgam UTSW 7 127,715,201 (GRCm39) missense probably damaging 1.00
R3404:Itgam UTSW 7 127,669,875 (GRCm39) splice site probably null
R3821:Itgam UTSW 7 127,711,458 (GRCm39) splice site probably null
R3822:Itgam UTSW 7 127,711,458 (GRCm39) splice site probably null
R3960:Itgam UTSW 7 127,714,347 (GRCm39) missense probably benign 0.02
R3968:Itgam UTSW 7 127,712,205 (GRCm39) missense probably damaging 1.00
R4192:Itgam UTSW 7 127,663,904 (GRCm39) missense probably benign 0.21
R4400:Itgam UTSW 7 127,680,830 (GRCm39) missense probably damaging 1.00
R4708:Itgam UTSW 7 127,700,709 (GRCm39) missense probably damaging 0.99
R4709:Itgam UTSW 7 127,700,709 (GRCm39) missense probably damaging 0.99
R4742:Itgam UTSW 7 127,712,245 (GRCm39) missense probably damaging 1.00
R4790:Itgam UTSW 7 127,715,445 (GRCm39) missense probably benign 0.01
R4960:Itgam UTSW 7 127,715,012 (GRCm39) missense possibly damaging 0.93
R5190:Itgam UTSW 7 127,715,489 (GRCm39) splice site probably null
R5379:Itgam UTSW 7 127,711,560 (GRCm39) missense probably damaging 1.00
R5386:Itgam UTSW 7 127,707,152 (GRCm39) missense probably benign 0.00
R6104:Itgam UTSW 7 127,715,474 (GRCm39) missense possibly damaging 0.85
R6122:Itgam UTSW 7 127,684,824 (GRCm39) missense probably damaging 0.99
R6189:Itgam UTSW 7 127,711,676 (GRCm39) missense probably benign 0.04
R6282:Itgam UTSW 7 127,684,114 (GRCm39) missense probably benign 0.01
R6545:Itgam UTSW 7 127,707,044 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCGTCTACTACCCATCTGG -3'
(R):5'- TGACCTAGCATTAGAGAATGGAGAC -3'

Sequencing Primer
(F):5'- ATCTGGCTTATCTTACCGGAAG -3'
(R):5'- CCACTGGATTGTACACAGTGG -3'
Posted On 2016-06-15