Incidental Mutation 'R5331:A2m'
ID 423232
Institutional Source Beutler Lab
Gene Symbol A2m
Ensembl Gene ENSMUSG00000030111
Gene Name alpha-2-macroglobulin
Synonyms A2mp
MMRRC Submission 042913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5331 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121612920-121656197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121615375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 83 (D83G)
Ref Sequence ENSEMBL: ENSMUSP00000032203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032203] [ENSMUST00000204850]
AlphaFold Q6GQT1
Predicted Effect probably benign
Transcript: ENSMUST00000032203
AA Change: D83G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: D83G

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 probably benign
Transcript: ENSMUST00000204850
Meta Mutation Damage Score 0.2214 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (99/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,143,681 (GRCm39) T80A probably damaging Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Ankrd46 G A 15: 36,486,175 (GRCm39) T26I probably benign Het
Bmpr1b T C 3: 141,562,176 (GRCm39) N337S probably damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cct5 A G 15: 31,594,448 (GRCm39) probably benign Het
Cdca2 T C 14: 67,914,920 (GRCm39) K780E possibly damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Ces3a G A 8: 105,784,188 (GRCm39) E416K probably damaging Het
Chd8 T A 14: 52,439,571 (GRCm39) probably benign Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctsa A G 2: 164,676,229 (GRCm39) probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dydc1 T C 14: 40,804,320 (GRCm39) probably null Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Enpp3 T A 10: 24,684,058 (GRCm39) N227I probably damaging Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fam193a C A 5: 34,622,915 (GRCm39) probably null Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gabrr2 A G 4: 33,082,583 (GRCm39) K236E possibly damaging Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm18025 C T 12: 34,340,574 (GRCm39) C173Y probably benign Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Gpaa1 T A 15: 76,216,511 (GRCm39) probably benign Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Gvin3 T C 7: 106,197,958 (GRCm39) noncoding transcript Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Insc T A 7: 114,444,273 (GRCm39) M420K probably damaging Het
Ints10 A T 8: 69,273,472 (GRCm39) probably null Het
Kank1 A G 19: 25,388,693 (GRCm39) T789A probably damaging Het
Kat6a T A 8: 23,430,000 (GRCm39) L1785Q unknown Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Knl1 T A 2: 118,900,736 (GRCm39) D812E possibly damaging Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mia2 A G 12: 59,142,598 (GRCm39) S5G probably benign Het
Mon1b C T 8: 114,362,899 (GRCm39) T49I probably null Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Mxd3 T C 13: 55,477,071 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nek7 A T 1: 138,426,312 (GRCm39) probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Or5d46 T C 2: 88,170,332 (GRCm39) L141P probably damaging Het
Osmr G C 15: 6,872,362 (GRCm39) T244S probably damaging Het
Ovol3 T C 7: 29,932,904 (GRCm39) D177G possibly damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Pdilt T C 7: 119,114,147 (GRCm39) E117G possibly damaging Het
Pecr A G 1: 72,314,005 (GRCm39) probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rgsl1 T C 1: 153,678,038 (GRCm39) N130S probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc22a27 A G 19: 7,856,820 (GRCm39) I406T probably benign Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Sphkap A G 1: 83,254,503 (GRCm39) V1082A probably benign Het
Stox2 G A 8: 47,866,662 (GRCm39) probably benign Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tekt5 C T 16: 10,179,193 (GRCm39) M391I probably benign Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Themis2 T C 4: 132,510,244 (GRCm39) D652G possibly damaging Het
Tmem185b A G 1: 119,455,322 (GRCm39) probably benign Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Usp25 C A 16: 76,847,446 (GRCm39) Q185K probably damaging Het
Xkr5 G A 8: 18,983,484 (GRCm39) probably benign Het
Zfp541 C T 7: 15,829,683 (GRCm39) P1331S probably 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
R1791:A2m UTSW 6 121,631,571 (GRCm39) missense probably benign 0.04
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
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'- TGGCACATAGAGATGCTCATAGC -3'
(R):5'- GTGGTGACTCACGGTTAACC -3'

Sequencing Primer
(F):5'- GCTCATAGCAACAACCCCTTC -3'
(R):5'- GGTGACTCACGGTTAACCTTGAAC -3'
Posted On 2016-08-04