Incidental Mutation 'IGL01951:A2m'
ID 181041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A2m
Ensembl Gene ENSMUSG00000030111
Gene Name alpha-2-macroglobulin
Synonyms A2mp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01951
Quality Score
Status
Chromosome 6
Chromosomal Location 121612920-121656197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121644149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 949 (T949I)
Ref Sequence ENSEMBL: ENSMUSP00000032203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032203]
AlphaFold Q6GQT1
Predicted Effect possibly damaging
Transcript: ENSMUST00000032203
AA Change: T949I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: T949I

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G 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
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
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
Posted On 2014-05-07