Incidental Mutation 'R1791:A2m'
ID 201717
Institutional Source Beutler Lab
Gene Symbol A2m
Ensembl Gene ENSMUSG00000030111
Gene Name alpha-2-macroglobulin
Synonyms A2mp
MMRRC Submission 039821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1791 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121612920-121656197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121631571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 623 (L623M)
Ref Sequence ENSEMBL: ENSMUSP00000032203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032203]
AlphaFold Q6GQT1
Predicted Effect probably benign
Transcript: ENSMUST00000032203
AA Change: L623M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: L623M

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:A2M_N 134 227 2.1e-20 PFAM
low complexity region 334 347 N/A INTRINSIC
A2M_N_2 465 613 2.04e-31 SMART
low complexity region 722 731 N/A INTRINSIC
A2M 738 828 2.31e-39 SMART
Pfam:Thiol-ester_cl 961 990 4.4e-18 PFAM
Pfam:A2M_comp 1010 1266 1.4e-98 PFAM
A2M_recep 1376 1463 2.69e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203413
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency 95% (104/110)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T A 3: 92,335,538 (GRCm39) D388V probably damaging Het
Akap13 T G 7: 75,260,783 (GRCm39) C333G probably benign Het
Akap6 T C 12: 53,115,908 (GRCm39) S1004P probably damaging Het
Akap7 T C 10: 25,115,583 (GRCm39) T181A probably benign Het
Ap3b1 A G 13: 94,545,305 (GRCm39) E186G possibly damaging Het
Arhgap17 T C 7: 122,885,925 (GRCm39) T736A probably benign Het
Bltp3a T A 17: 28,113,720 (GRCm39) D1297E probably damaging Het
Bmp8a G T 4: 123,218,378 (GRCm39) R214S possibly damaging Het
Cacna1f T C X: 7,486,678 (GRCm39) S890P probably damaging Het
Cd96 A T 16: 45,938,362 (GRCm39) Y34* probably null Het
Cdc42ep4 A G 11: 113,620,163 (GRCm39) L76P probably damaging Het
Cdh23 A G 10: 60,227,505 (GRCm39) V1195A possibly damaging Het
Cfap57 G A 4: 118,428,921 (GRCm39) T1015M possibly damaging Het
Chrm3 C A 13: 9,927,452 (GRCm39) G528V probably damaging Het
Cimap1c A T 9: 56,759,027 (GRCm39) F43I possibly damaging Het
Clip4 T C 17: 72,108,937 (GRCm39) probably benign Het
Col9a1 A T 1: 24,224,386 (GRCm39) R189S unknown Het
Cul4b A T X: 37,636,728 (GRCm39) I481N probably damaging Het
Cyp26b1 A G 6: 84,561,441 (GRCm39) S74P probably benign Het
Cyp3a57 A G 5: 145,307,820 (GRCm39) N192S probably benign Het
Dcbld1 A G 10: 52,195,572 (GRCm39) D260G probably damaging Het
Dhrs7 T C 12: 72,699,939 (GRCm39) N231S probably benign Het
Disp3 G A 4: 148,325,975 (GRCm39) P1261L probably damaging Het
Dnaaf4 T C 9: 72,867,966 (GRCm39) Y76H possibly damaging Het
Eml5 C A 12: 98,853,315 (GRCm39) V95F probably benign Het
Emsy A G 7: 98,297,087 (GRCm39) I32T probably damaging Het
Esr1 A G 10: 4,733,913 (GRCm39) R238G probably damaging Het
Exosc1 T C 19: 41,916,524 (GRCm39) K84R probably benign Het
F830016B08Rik T A 18: 60,433,589 (GRCm39) V224E probably benign Het
Fam228a T A 12: 4,782,748 (GRCm39) N115I probably damaging Het
Farp1 T C 14: 121,494,157 (GRCm39) I546T probably damaging Het
Fbxo30 T A 10: 11,165,531 (GRCm39) C84* probably null Het
Fbxw17 A G 13: 50,579,810 (GRCm39) probably benign Het
Foxo4 G C X: 100,302,069 (GRCm39) R192P probably benign Het
Galnt7 G T 8: 57,995,564 (GRCm39) T377K probably benign Het
Garnl3 T C 2: 32,924,139 (GRCm39) I248V probably benign Het
Glod4 A G 11: 76,128,534 (GRCm39) Y104H probably damaging Het
Glrb T C 3: 80,767,482 (GRCm39) Y246C probably damaging Het
Gm5292 A G 5: 44,101,752 (GRCm39) noncoding transcript Het
Gm5424 C A 10: 61,908,086 (GRCm39) noncoding transcript Het
Gm7276 C T 18: 77,273,431 (GRCm39) probably benign Het
Golga5 A G 12: 102,458,390 (GRCm39) N611S possibly damaging Het
Gucy2c A C 6: 136,721,025 (GRCm39) Y391D probably damaging Het
H6pd A G 4: 150,066,130 (GRCm39) I760T probably damaging Het
Hapln2 T A 3: 87,931,712 (GRCm39) I5F possibly damaging Het
Hdac11 G T 6: 91,145,806 (GRCm39) V169L probably benign Het
Hectd2 T C 19: 36,586,816 (GRCm39) V557A possibly damaging Het
Huwe1 T A X: 150,647,749 (GRCm39) N747K probably benign Het
Ints1 A G 5: 139,760,277 (GRCm39) S66P probably benign Het
Ipo7 A G 7: 109,626,339 (GRCm39) D49G probably damaging Het
Itgb4 G A 11: 115,879,346 (GRCm39) C575Y probably damaging Het
Klhl3 A G 13: 58,181,044 (GRCm39) V250A possibly damaging Het
Klk1b24 A G 7: 43,839,852 (GRCm39) probably null Het
Map3k11 T A 19: 5,745,600 (GRCm39) Y333* probably null Het
Mbp A G 18: 82,572,474 (GRCm39) T57A probably benign Het
Myh9 A G 15: 77,657,464 (GRCm39) probably benign Het
Mypn C T 10: 62,961,472 (GRCm39) R1040Q probably damaging Het
Ncdn A G 4: 126,645,732 (GRCm39) probably null Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Or10ab5 T A 7: 108,245,571 (GRCm39) T71S probably benign Het
Or11h4 AGGGATTGGG AGGGATTGGGATTGGG 14: 50,974,144 (GRCm39) probably benign Het
Or4k15c A G 14: 50,321,499 (GRCm39) F213S probably benign Het
Or51b6b T C 7: 103,310,005 (GRCm39) probably null Het
Or51f1 G A 7: 102,505,569 (GRCm39) Q307* probably null Het
Or8d2 T A 9: 38,759,901 (GRCm39) S164T possibly damaging Het
Pbx3 T C 2: 34,114,464 (GRCm39) T82A possibly damaging Het
Pi15 T C 1: 17,672,945 (GRCm39) F48S probably benign Het
Pkhd1 A G 1: 20,655,376 (GRCm39) probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Prrc2c G T 1: 162,532,551 (GRCm39) probably benign Het
Prune1 A G 3: 95,175,553 (GRCm39) Y41H possibly damaging Het
Rcsd1 T C 1: 165,483,541 (GRCm39) D150G probably damaging Het
Rgs12 A T 5: 35,123,456 (GRCm39) Q413L possibly damaging Het
Rhox2h A G X: 36,850,848 (GRCm39) Y185H probably damaging Het
Rnf17 T A 14: 56,741,464 (GRCm39) C1306* probably null Het
Ros1 T A 10: 51,976,183 (GRCm39) M1499L probably benign Het
Rubcnl T C 14: 75,284,989 (GRCm39) S503P probably damaging Het
Sap18b A T 8: 96,552,342 (GRCm39) R117S probably benign Het
Shank2 A G 7: 143,964,336 (GRCm39) E858G probably damaging Het
Shtn1 T C 19: 59,020,632 (GRCm39) R197G probably damaging Het
Slamf8 G A 1: 172,412,087 (GRCm39) R163* probably null Het
Slc6a3 T C 13: 73,714,411 (GRCm39) I392T possibly damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Sp8 T C 12: 118,812,751 (GRCm39) V202A possibly damaging Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Stpg2 A T 3: 139,023,162 (GRCm39) T393S probably benign Het
Tagap T C 17: 8,150,299 (GRCm39) M228T probably damaging Het
Tagap A G 17: 8,152,377 (GRCm39) T521A probably benign Het
Tas2r123 T G 6: 132,824,528 (GRCm39) S142A probably damaging Het
Tat T A 8: 110,718,261 (GRCm39) S49T probably benign Het
Tfap4 G T 16: 4,369,933 (GRCm39) Q41K possibly damaging Het
Thbs2 T C 17: 14,906,075 (GRCm39) N275S probably benign Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tnrc6a T C 7: 122,792,140 (GRCm39) V1886A possibly damaging Het
Trim56 G A 5: 137,143,252 (GRCm39) A88V probably damaging Het
Trio A G 15: 27,841,842 (GRCm39) Y1081H probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ube2o G A 11: 116,432,320 (GRCm39) T882I probably benign Het
Upk3a A G 15: 84,904,815 (GRCm39) T188A possibly damaging Het
Vmn1r79 A C 7: 11,910,358 (GRCm39) D80A probably damaging Het
Wls C A 3: 159,617,450 (GRCm39) T375K probably benign Het
Wnt5a T C 14: 28,233,835 (GRCm39) M1T probably null Het
Zcchc4 A G 5: 52,953,932 (GRCm39) E204G probably damaging Het
Zfp513 G A 5: 31,357,678 (GRCm39) P232S possibly damaging Het
Other mutations in A2m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:A2m APN 6 121,621,108 (GRCm39) missense possibly damaging 0.67
IGL00798:A2m APN 6 121,647,969 (GRCm39) missense probably damaging 1.00
IGL01154:A2m APN 6 121,650,501 (GRCm39) nonsense probably null
IGL01313:A2m APN 6 121,621,969 (GRCm39) critical splice donor site probably null
IGL01337:A2m APN 6 121,645,529 (GRCm39) missense probably damaging 0.98
IGL01505:A2m APN 6 121,653,906 (GRCm39) missense possibly damaging 0.83
IGL01508:A2m APN 6 121,636,326 (GRCm39) nonsense probably null
IGL01672:A2m APN 6 121,618,316 (GRCm39) missense probably damaging 1.00
IGL01951:A2m APN 6 121,644,149 (GRCm39) missense possibly damaging 0.78
IGL02012:A2m APN 6 121,651,820 (GRCm39) missense probably damaging 1.00
IGL02066:A2m APN 6 121,626,854 (GRCm39) missense probably damaging 1.00
IGL02234:A2m APN 6 121,645,179 (GRCm39) missense possibly damaging 0.67
IGL02397:A2m APN 6 121,623,834 (GRCm39) missense probably benign
IGL02407:A2m APN 6 121,645,575 (GRCm39) nonsense probably null
IGL02408:A2m APN 6 121,621,130 (GRCm39) missense probably damaging 0.99
IGL02469:A2m APN 6 121,645,074 (GRCm39) missense probably damaging 1.00
IGL02527:A2m APN 6 121,638,392 (GRCm39) missense probably damaging 0.99
IGL02612:A2m APN 6 121,654,971 (GRCm39) missense probably benign
IGL02746:A2m APN 6 121,646,462 (GRCm39) splice site probably benign
IGL02952:A2m APN 6 121,654,984 (GRCm39) missense probably damaging 0.99
IGL03056:A2m APN 6 121,647,862 (GRCm39) missense probably damaging 0.96
IGL03121:A2m APN 6 121,618,265 (GRCm39) missense probably benign 0.02
IGL03303:A2m APN 6 121,644,122 (GRCm39) missense probably damaging 1.00
IGL03369:A2m APN 6 121,653,862 (GRCm39) critical splice acceptor site probably null
IGL03046:A2m UTSW 6 121,636,282 (GRCm39) missense probably benign 0.04
R0040:A2m UTSW 6 121,622,165 (GRCm39) missense possibly damaging 0.93
R0049:A2m UTSW 6 121,615,267 (GRCm39) missense possibly damaging 0.77
R0049:A2m UTSW 6 121,615,267 (GRCm39) missense possibly damaging 0.77
R0109:A2m UTSW 6 121,636,262 (GRCm39) missense probably benign 0.00
R0147:A2m UTSW 6 121,639,405 (GRCm39) critical splice donor site probably null
R0148:A2m UTSW 6 121,639,405 (GRCm39) critical splice donor site probably null
R0345:A2m UTSW 6 121,615,231 (GRCm39) splice site probably benign
R0445:A2m UTSW 6 121,634,914 (GRCm39) missense probably damaging 1.00
R0766:A2m UTSW 6 121,653,849 (GRCm39) splice site probably benign
R1186:A2m UTSW 6 121,638,493 (GRCm39) missense probably benign 0.00
R1436:A2m UTSW 6 121,621,172 (GRCm39) missense probably benign 0.09
R1452:A2m UTSW 6 121,655,015 (GRCm39) missense probably benign 0.01
R1636:A2m UTSW 6 121,631,571 (GRCm39) missense probably benign 0.04
R1637:A2m UTSW 6 121,631,571 (GRCm39) missense probably benign 0.04
R1638:A2m UTSW 6 121,631,571 (GRCm39) missense probably benign 0.04
R1698:A2m UTSW 6 121,622,117 (GRCm39) missense possibly damaging 0.88
R1776:A2m UTSW 6 121,618,383 (GRCm39) missense probably damaging 1.00
R1918:A2m UTSW 6 121,621,895 (GRCm39) missense probably benign 0.16
R1921:A2m UTSW 6 121,631,571 (GRCm39) missense probably benign 0.04
R1927:A2m UTSW 6 121,613,338 (GRCm39) missense probably damaging 1.00
R1934:A2m UTSW 6 121,626,792 (GRCm39) missense probably damaging 0.98
R1943:A2m UTSW 6 121,645,506 (GRCm39) missense possibly damaging 0.90
R1996:A2m UTSW 6 121,646,556 (GRCm39) missense probably damaging 1.00
R2039:A2m UTSW 6 121,636,908 (GRCm39) missense probably benign 0.32
R2085:A2m UTSW 6 121,653,918 (GRCm39) missense probably damaging 1.00
R2092:A2m UTSW 6 121,651,896 (GRCm39) nonsense probably null
R2105:A2m UTSW 6 121,650,459 (GRCm39) missense probably benign 0.04
R2107:A2m UTSW 6 121,631,571 (GRCm39) missense probably benign 0.04
R2235:A2m UTSW 6 121,619,023 (GRCm39) missense probably benign 0.21
R2292:A2m UTSW 6 121,650,518 (GRCm39) missense possibly damaging 0.90
R2350:A2m UTSW 6 121,655,047 (GRCm39) splice site probably benign
R3001:A2m UTSW 6 121,638,406 (GRCm39) missense possibly damaging 0.88
R3002:A2m UTSW 6 121,638,406 (GRCm39) missense possibly damaging 0.88
R3023:A2m UTSW 6 121,646,531 (GRCm39) missense probably benign 0.08
R3429:A2m UTSW 6 121,613,249 (GRCm39) start codon destroyed probably null
R3437:A2m UTSW 6 121,616,253 (GRCm39) missense probably null 0.03
R3909:A2m UTSW 6 121,625,125 (GRCm39) missense probably damaging 1.00
R4300:A2m UTSW 6 121,650,434 (GRCm39) missense probably benign 0.00
R4332:A2m UTSW 6 121,634,406 (GRCm39) missense probably benign 0.01
R4584:A2m UTSW 6 121,634,365 (GRCm39) missense probably benign 0.07
R4697:A2m UTSW 6 121,615,243 (GRCm39) start codon destroyed probably null 0.94
R4710:A2m UTSW 6 121,618,262 (GRCm39) missense probably benign 0.03
R4841:A2m UTSW 6 121,623,803 (GRCm39) missense probably benign 0.06
R5206:A2m UTSW 6 121,651,766 (GRCm39) missense probably damaging 1.00
R5219:A2m UTSW 6 121,653,909 (GRCm39) missense possibly damaging 0.90
R5230:A2m UTSW 6 121,651,820 (GRCm39) missense probably damaging 1.00
R5330:A2m UTSW 6 121,615,375 (GRCm39) missense probably benign 0.11
R5331:A2m UTSW 6 121,615,375 (GRCm39) missense probably benign 0.11
R5377:A2m UTSW 6 121,622,212 (GRCm39) missense probably benign
R5590:A2m UTSW 6 121,653,891 (GRCm39) missense probably damaging 1.00
R5835:A2m UTSW 6 121,616,295 (GRCm39) missense probably damaging 1.00
R5910:A2m UTSW 6 121,645,076 (GRCm39) missense probably damaging 1.00
R5915:A2m UTSW 6 121,644,122 (GRCm39) missense probably damaging 1.00
R5949:A2m UTSW 6 121,655,032 (GRCm39) missense probably damaging 1.00
R5994:A2m UTSW 6 121,647,862 (GRCm39) missense probably benign 0.38
R5996:A2m UTSW 6 121,636,353 (GRCm39) missense probably damaging 1.00
R6035:A2m UTSW 6 121,615,353 (GRCm39) missense probably damaging 0.99
R6035:A2m UTSW 6 121,615,353 (GRCm39) missense probably damaging 0.99
R6090:A2m UTSW 6 121,624,972 (GRCm39) missense probably benign 0.45
R6241:A2m UTSW 6 121,623,788 (GRCm39) missense probably benign 0.09
R6294:A2m UTSW 6 121,631,440 (GRCm39) missense probably benign
R6492:A2m UTSW 6 121,631,464 (GRCm39) missense probably benign 0.35
R6554:A2m UTSW 6 121,618,246 (GRCm39) missense probably damaging 1.00
R6597:A2m UTSW 6 121,625,080 (GRCm39) missense probably damaging 1.00
R6742:A2m UTSW 6 121,654,995 (GRCm39) missense probably benign 0.01
R6795:A2m UTSW 6 121,625,281 (GRCm39) splice site probably null
R6843:A2m UTSW 6 121,615,360 (GRCm39) missense probably benign 0.01
R7013:A2m UTSW 6 121,618,345 (GRCm39) missense probably null 0.00
R7137:A2m UTSW 6 121,654,944 (GRCm39) missense possibly damaging 0.85
R7167:A2m UTSW 6 121,624,930 (GRCm39) missense probably benign
R7294:A2m UTSW 6 121,650,541 (GRCm39) nonsense probably null
R7452:A2m UTSW 6 121,618,291 (GRCm39) missense probably damaging 1.00
R7507:A2m UTSW 6 121,652,177 (GRCm39) missense probably benign 0.01
R7602:A2m UTSW 6 121,647,895 (GRCm39) missense possibly damaging 0.79
R7602:A2m UTSW 6 121,618,966 (GRCm39) missense probably damaging 1.00
R7709:A2m UTSW 6 121,637,063 (GRCm39) missense possibly damaging 0.81
R7766:A2m UTSW 6 121,615,300 (GRCm39) missense probably benign 0.08
R7921:A2m UTSW 6 121,654,954 (GRCm39) missense probably benign 0.00
R8007:A2m UTSW 6 121,647,845 (GRCm39) intron probably benign
R8291:A2m UTSW 6 121,655,017 (GRCm39) missense probably damaging 1.00
R8542:A2m UTSW 6 121,634,369 (GRCm39) missense probably benign 0.03
R8856:A2m UTSW 6 121,618,349 (GRCm39) missense probably benign 0.00
R9023:A2m UTSW 6 121,636,917 (GRCm39) missense possibly damaging 0.90
R9154:A2m UTSW 6 121,645,512 (GRCm39) missense probably damaging 1.00
R9156:A2m UTSW 6 121,647,957 (GRCm39) missense probably damaging 0.98
R9255:A2m UTSW 6 121,626,795 (GRCm39) missense probably damaging 1.00
R9269:A2m UTSW 6 121,637,865 (GRCm39) missense probably benign 0.38
R9325:A2m UTSW 6 121,646,578 (GRCm39) missense possibly damaging 0.81
R9393:A2m UTSW 6 121,616,270 (GRCm39) missense possibly damaging 0.91
R9563:A2m UTSW 6 121,645,009 (GRCm39) missense probably damaging 0.99
X0057:A2m UTSW 6 121,645,135 (GRCm39) missense probably damaging 1.00
X0060:A2m UTSW 6 121,653,039 (GRCm39) missense probably damaging 1.00
X0063:A2m UTSW 6 121,623,835 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACATGGCGGGGATTCAGATG -3'
(R):5'- GTTCAAAACTATTCACCTACAGGAGAC -3'

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