Incidental Mutation 'R6189:Itgam'
ID 502387
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 044329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127661812-127717663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127711676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 764 (M764V)
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 probably benign
Transcript: ENSMUST00000064821
AA Change: M764V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: M764V

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: M763V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: M763V

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: M646V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: M646V

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 probably benign
Transcript: ENSMUST00000106242
AA Change: M763V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: M763V

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: M764V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: M764V

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 probably benign
Transcript: ENSMUST00000134694
SMART Domains Protein: ENSMUSP00000117120
Gene: ENSMUSG00000108596

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 39 82 1.1e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Abca8a T C 11: 109,921,710 (GRCm39) D1448G probably damaging Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha5 A T 5: 84,385,399 (GRCm39) F311I probably damaging Het
Erbb4 T A 1: 68,083,075 (GRCm39) M1059L probably benign Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Lrp4 T C 2: 91,305,579 (GRCm39) V283A possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nup42 G T 5: 24,380,452 (GRCm39) G149V probably damaging Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pcdhb10 T A 18: 37,545,456 (GRCm39) H177Q probably damaging Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown 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
R5109:Itgam UTSW 7 127,712,390 (GRCm39) missense probably benign 0.06
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
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'- AGATCTCCTGACTGAGGGTG -3'
(R):5'- TCGTCTTGGCAGATGCTGTC -3'

Sequencing Primer
(F):5'- TGGGGAGGTCTTAGGAAACTG -3'
(R):5'- TGCCGCAATTTTTCTCAAAGGG -3'
Posted On 2018-02-27