Incidental Mutation 'R4697:A2m'
ID 355771
Institutional Source Beutler Lab
Gene Symbol A2m
Ensembl Gene ENSMUSG00000030111
Gene Name alpha-2-macroglobulin
Synonyms A2mp
MMRRC Submission 041947-MU
Accession Numbers

NCBI RefSeq: NM_175628.3; MGI:2449119

Essential gene? Non essential (E-score: 0.000) question?
Stock # R4697 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121635376-121679227 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 121638284 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000144862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032203] [ENSMUST00000204850]
AlphaFold Q6GQT1
Predicted Effect possibly damaging
Transcript: ENSMUST00000032203
AA Change: M39T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: M39T

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 null
Transcript: ENSMUST00000204850
AA Change: M1T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.4639 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,791,448 I455N probably damaging Het
Aatf T A 11: 84,449,138 D449V probably damaging Het
Acbd3 T A 1: 180,721,944 probably benign Het
BC005561 A G 5: 104,522,240 K1543E probably benign Het
Bicc1 T A 10: 70,953,484 I366F possibly damaging Het
Ccdc74a T C 16: 17,649,749 S184P possibly damaging Het
Cntn4 T C 6: 106,525,485 V401A probably damaging Het
Cux2 T C 5: 121,873,753 T540A probably damaging Het
Disp2 G T 2: 118,791,684 E966* probably null Het
Dpp7 A G 2: 25,354,919 Y209H probably benign Het
Dstyk T A 1: 132,449,487 F277Y probably damaging Het
Dtx1 A T 5: 120,694,408 probably null Het
Ear-ps2 G A 14: 44,047,060 noncoding transcript Het
Ednra T C 8: 77,664,995 H422R probably benign Het
Erlec1 T A 11: 30,952,640 I67F probably benign Het
Fam161b G A 12: 84,348,558 probably benign Het
Gata5 A T 2: 180,327,379 C345* probably null Het
Glmp T C 3: 88,328,274 V47A probably damaging Het
Gm9762 T A 3: 78,966,550 noncoding transcript Het
Gnas A T 2: 174,298,080 D14V probably damaging Het
Gnl3 T C 14: 31,017,329 S53G probably damaging Het
Grhl3 C T 4: 135,548,466 V527M probably damaging Het
Hoxd10 T A 2: 74,694,187 L281* probably null Het
Kif16b T G 2: 142,690,694 Y1175S probably benign Het
Kif2b A G 11: 91,576,846 S204P probably benign Het
Klhl40 T A 9: 121,778,734 I320N probably damaging Het
Ksr2 G A 5: 117,708,147 R693Q probably damaging Het
Mis12 A G 11: 71,025,326 K62E possibly damaging Het
Mlc1 A G 15: 88,974,777 C102R probably damaging Het
Muc5b T C 7: 141,857,361 I1348T unknown Het
Myh7b A G 2: 155,629,322 E1130G probably damaging Het
Nat8f4 T C 6: 85,901,386 T52A probably benign Het
Nxpe2 C A 9: 48,320,521 V379L probably benign Het
Olfr1231 C A 2: 89,302,902 S230I possibly damaging Het
Olfr1231 T A 2: 89,302,903 S230C probably damaging Het
Olfr1448 C T 19: 12,919,934 C125Y probably damaging Het
Olfr1465 A T 19: 13,313,717 D189E probably benign Het
Olfr288 G A 15: 98,186,868 R310W probably damaging Het
Pcdhga7 A T 18: 37,717,208 Y756F probably damaging Het
Pcsk6 T A 7: 65,959,241 Y284N probably damaging Het
Pdcd11 T C 19: 47,126,347 V1367A possibly damaging Het
Postn T A 3: 54,375,071 N484K probably damaging Het
Prkd3 C T 17: 78,961,171 V572I probably benign Het
Qser1 T C 2: 104,787,183 S1005G probably benign Het
Radil G T 5: 142,486,801 D951E probably benign Het
Ripk1 C T 13: 34,027,942 R352* probably null Het
Sacs T C 14: 61,212,747 F4081L probably benign Het
Sbf1 A G 15: 89,315,085 V11A possibly damaging Het
Sgip1 T A 4: 102,934,587 F536I probably damaging Het
Slc45a1 A G 4: 150,638,284 L381P probably damaging Het
Smarcad1 C T 6: 65,052,641 P71L probably benign Het
Spns1 T A 7: 126,377,037 D14V probably damaging Het
Sv2c T A 13: 95,986,018 I417F possibly damaging Het
Tas2r113 T A 6: 132,893,516 M169K probably benign Het
Tgm1 A T 14: 55,705,681 N567K probably benign Het
Tln2 C T 9: 67,395,461 R76Q probably damaging Het
Trpm6 T C 19: 18,853,791 V1340A probably benign Het
Tspan18 A T 2: 93,312,030 probably null Het
Txndc11 C T 16: 11,084,314 V679I probably damaging Het
Usf1 G T 1: 171,416,964 G144V possibly damaging Het
Vmn1r59 T C 7: 5,454,452 Y103C probably damaging Het
Vmn2r23 A T 6: 123,741,826 I713F probably damaging Het
Vmn2r79 A T 7: 87,037,960 I850F probably damaging Het
Wdr90 C T 17: 25,855,363 R676H probably benign Het
Zfp867 G A 11: 59,463,661 R281W probably damaging Het
Zfp939 T C 7: 39,472,942 noncoding transcript Het
Other mutations in A2m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:A2m APN 6 121,644,149 (GRCm38) missense possibly damaging 0.67
IGL00798:A2m APN 6 121,671,010 (GRCm38) missense probably damaging 1.00
IGL01154:A2m APN 6 121,673,542 (GRCm38) nonsense probably null
IGL01313:A2m APN 6 121,645,010 (GRCm38) critical splice donor site probably null
IGL01337:A2m APN 6 121,668,570 (GRCm38) missense probably damaging 0.98
IGL01505:A2m APN 6 121,676,947 (GRCm38) missense possibly damaging 0.83
IGL01508:A2m APN 6 121,659,367 (GRCm38) nonsense probably null
IGL01672:A2m APN 6 121,641,357 (GRCm38) missense probably damaging 1.00
IGL01951:A2m APN 6 121,667,190 (GRCm38) missense possibly damaging 0.78
IGL02012:A2m APN 6 121,674,861 (GRCm38) missense probably damaging 1.00
IGL02066:A2m APN 6 121,649,895 (GRCm38) missense probably damaging 1.00
IGL02234:A2m APN 6 121,668,220 (GRCm38) missense possibly damaging 0.67
IGL02397:A2m APN 6 121,646,875 (GRCm38) missense probably benign
IGL02407:A2m APN 6 121,668,616 (GRCm38) nonsense probably null
IGL02408:A2m APN 6 121,644,171 (GRCm38) missense probably damaging 0.99
IGL02469:A2m APN 6 121,668,115 (GRCm38) missense probably damaging 1.00
IGL02527:A2m APN 6 121,661,433 (GRCm38) missense probably damaging 0.99
IGL02612:A2m APN 6 121,678,012 (GRCm38) missense probably benign
IGL02746:A2m APN 6 121,669,503 (GRCm38) splice site probably benign
IGL02952:A2m APN 6 121,678,025 (GRCm38) missense probably damaging 0.99
IGL03056:A2m APN 6 121,670,903 (GRCm38) missense probably damaging 0.96
IGL03121:A2m APN 6 121,641,306 (GRCm38) missense probably benign 0.02
IGL03303:A2m APN 6 121,667,163 (GRCm38) missense probably damaging 1.00
IGL03369:A2m APN 6 121,676,903 (GRCm38) critical splice acceptor site probably null
IGL03046:A2m UTSW 6 121,659,323 (GRCm38) missense probably benign 0.04
R0040:A2m UTSW 6 121,645,206 (GRCm38) missense possibly damaging 0.93
R0049:A2m UTSW 6 121,638,308 (GRCm38) missense possibly damaging 0.77
R0049:A2m UTSW 6 121,638,308 (GRCm38) missense possibly damaging 0.77
R0109:A2m UTSW 6 121,659,303 (GRCm38) missense probably benign 0.00
R0147:A2m UTSW 6 121,662,446 (GRCm38) critical splice donor site probably null
R0148:A2m UTSW 6 121,662,446 (GRCm38) critical splice donor site probably null
R0345:A2m UTSW 6 121,638,272 (GRCm38) splice site probably benign
R0445:A2m UTSW 6 121,657,955 (GRCm38) missense probably damaging 1.00
R0766:A2m UTSW 6 121,676,890 (GRCm38) splice site probably benign
R1186:A2m UTSW 6 121,661,534 (GRCm38) missense probably benign 0.00
R1436:A2m UTSW 6 121,644,213 (GRCm38) missense probably benign 0.09
R1452:A2m UTSW 6 121,678,056 (GRCm38) missense probably benign 0.01
R1636:A2m UTSW 6 121,654,612 (GRCm38) missense probably benign 0.04
R1637:A2m UTSW 6 121,654,612 (GRCm38) missense probably benign 0.04
R1638:A2m UTSW 6 121,654,612 (GRCm38) missense probably benign 0.04
R1698:A2m UTSW 6 121,645,158 (GRCm38) missense possibly damaging 0.88
R1776:A2m UTSW 6 121,641,424 (GRCm38) missense probably damaging 1.00
R1791:A2m UTSW 6 121,654,612 (GRCm38) missense probably benign 0.04
R1918:A2m UTSW 6 121,644,936 (GRCm38) missense probably benign 0.16
R1921:A2m UTSW 6 121,654,612 (GRCm38) missense probably benign 0.04
R1927:A2m UTSW 6 121,636,379 (GRCm38) missense probably damaging 1.00
R1934:A2m UTSW 6 121,649,833 (GRCm38) missense probably damaging 0.98
R1943:A2m UTSW 6 121,668,547 (GRCm38) missense possibly damaging 0.90
R1996:A2m UTSW 6 121,669,597 (GRCm38) missense probably damaging 1.00
R2039:A2m UTSW 6 121,659,949 (GRCm38) missense probably benign 0.32
R2085:A2m UTSW 6 121,676,959 (GRCm38) missense probably damaging 1.00
R2092:A2m UTSW 6 121,674,937 (GRCm38) nonsense probably null
R2105:A2m UTSW 6 121,673,500 (GRCm38) missense probably benign 0.04
R2107:A2m UTSW 6 121,654,612 (GRCm38) missense probably benign 0.04
R2235:A2m UTSW 6 121,642,064 (GRCm38) missense probably benign 0.21
R2292:A2m UTSW 6 121,673,559 (GRCm38) missense possibly damaging 0.90
R2350:A2m UTSW 6 121,678,088 (GRCm38) splice site probably benign
R3001:A2m UTSW 6 121,661,447 (GRCm38) missense possibly damaging 0.88
R3002:A2m UTSW 6 121,661,447 (GRCm38) missense possibly damaging 0.88
R3023:A2m UTSW 6 121,669,572 (GRCm38) missense probably benign 0.08
R3429:A2m UTSW 6 121,636,290 (GRCm38) start codon destroyed probably null
R3437:A2m UTSW 6 121,639,294 (GRCm38) missense probably null 0.03
R3909:A2m UTSW 6 121,648,166 (GRCm38) missense probably damaging 1.00
R4300:A2m UTSW 6 121,673,475 (GRCm38) missense probably benign 0.00
R4332:A2m UTSW 6 121,657,447 (GRCm38) missense probably benign 0.01
R4584:A2m UTSW 6 121,657,406 (GRCm38) missense probably benign 0.07
R4710:A2m UTSW 6 121,641,303 (GRCm38) missense probably benign 0.03
R4841:A2m UTSW 6 121,646,844 (GRCm38) missense probably benign 0.06
R5206:A2m UTSW 6 121,674,807 (GRCm38) missense probably damaging 1.00
R5219:A2m UTSW 6 121,676,950 (GRCm38) missense possibly damaging 0.90
R5230:A2m UTSW 6 121,674,861 (GRCm38) missense probably damaging 1.00
R5330:A2m UTSW 6 121,638,416 (GRCm38) missense probably benign 0.11
R5331:A2m UTSW 6 121,638,416 (GRCm38) missense probably benign 0.11
R5377:A2m UTSW 6 121,645,253 (GRCm38) missense probably benign
R5590:A2m UTSW 6 121,676,932 (GRCm38) missense probably damaging 1.00
R5835:A2m UTSW 6 121,639,336 (GRCm38) missense probably damaging 1.00
R5910:A2m UTSW 6 121,668,117 (GRCm38) missense probably damaging 1.00
R5915:A2m UTSW 6 121,667,163 (GRCm38) missense probably damaging 1.00
R5949:A2m UTSW 6 121,678,073 (GRCm38) missense probably damaging 1.00
R5994:A2m UTSW 6 121,670,903 (GRCm38) missense probably benign 0.38
R5996:A2m UTSW 6 121,659,394 (GRCm38) missense probably damaging 1.00
R6035:A2m UTSW 6 121,638,394 (GRCm38) missense probably damaging 0.99
R6035:A2m UTSW 6 121,638,394 (GRCm38) missense probably damaging 0.99
R6090:A2m UTSW 6 121,648,013 (GRCm38) missense probably benign 0.45
R6241:A2m UTSW 6 121,646,829 (GRCm38) missense probably benign 0.09
R6294:A2m UTSW 6 121,654,481 (GRCm38) missense probably benign
R6492:A2m UTSW 6 121,654,505 (GRCm38) missense probably benign 0.35
R6554:A2m UTSW 6 121,641,287 (GRCm38) missense probably damaging 1.00
R6597:A2m UTSW 6 121,648,121 (GRCm38) missense probably damaging 1.00
R6742:A2m UTSW 6 121,678,036 (GRCm38) missense probably benign 0.01
R6795:A2m UTSW 6 121,648,322 (GRCm38) splice site probably null
R6843:A2m UTSW 6 121,638,401 (GRCm38) missense probably benign 0.01
R7013:A2m UTSW 6 121,641,386 (GRCm38) missense probably null 0.00
R7137:A2m UTSW 6 121,677,985 (GRCm38) missense possibly damaging 0.85
R7167:A2m UTSW 6 121,647,971 (GRCm38) missense probably benign
R7294:A2m UTSW 6 121,673,582 (GRCm38) nonsense probably null
R7452:A2m UTSW 6 121,641,332 (GRCm38) missense probably damaging 1.00
R7507:A2m UTSW 6 121,675,218 (GRCm38) missense probably benign 0.01
R7602:A2m UTSW 6 121,670,936 (GRCm38) missense possibly damaging 0.79
R7602:A2m UTSW 6 121,642,007 (GRCm38) missense probably damaging 1.00
R7709:A2m UTSW 6 121,660,104 (GRCm38) missense possibly damaging 0.81
R7766:A2m UTSW 6 121,638,341 (GRCm38) missense probably benign 0.08
R7921:A2m UTSW 6 121,677,995 (GRCm38) missense probably benign 0.00
R8007:A2m UTSW 6 121,670,886 (GRCm38) intron probably benign
R8291:A2m UTSW 6 121,678,058 (GRCm38) missense probably damaging 1.00
R8542:A2m UTSW 6 121,657,410 (GRCm38) missense probably benign 0.03
R8856:A2m UTSW 6 121,641,390 (GRCm38) missense probably benign 0.00
R9023:A2m UTSW 6 121,659,958 (GRCm38) missense possibly damaging 0.90
R9154:A2m UTSW 6 121,668,553 (GRCm38) missense probably damaging 1.00
R9156:A2m UTSW 6 121,670,998 (GRCm38) missense probably damaging 0.98
R9255:A2m UTSW 6 121,649,836 (GRCm38) missense probably damaging 1.00
R9269:A2m UTSW 6 121,660,906 (GRCm38) missense probably benign 0.38
R9325:A2m UTSW 6 121,669,619 (GRCm38) missense possibly damaging 0.81
R9393:A2m UTSW 6 121,639,311 (GRCm38) missense possibly damaging 0.91
R9563:A2m UTSW 6 121,668,050 (GRCm38) missense probably damaging 0.99
X0057:A2m UTSW 6 121,668,176 (GRCm38) missense probably damaging 1.00
X0060:A2m UTSW 6 121,676,080 (GRCm38) missense probably damaging 1.00
X0063:A2m UTSW 6 121,646,876 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCTTGCTGAATACATGTGC -3'
(R):5'- TGACTCACGATGAAGGAGGC -3'

Sequencing Primer
(F):5'- CCCCTCAACAAAGATGATCACTGG -3'
(R):5'- TCACGATGAAGGAGGCACAGTG -3'
Posted On 2015-10-21