Incidental Mutation 'R0148:A2m'
| ID |
60875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A2m
|
| Ensembl Gene |
ENSMUSG00000030111 |
| Gene Name |
alpha-2-macroglobulin |
| Synonyms |
A2mp |
| MMRRC Submission |
038432-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0148 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121612920-121656197 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 121639405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032203]
|
| AlphaFold |
Q6GQT1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032203
|
| SMART Domains |
Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.9481 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
86% (30/35) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
C |
13: 30,565,927 (GRCm39) |
S331P |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,613,993 (GRCm39) |
N1545K |
probably damaging |
Het |
| Bahcc1 |
A |
T |
11: 120,159,230 (GRCm39) |
Q152H |
probably damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,946 (GRCm39) |
Y780N |
probably damaging |
Het |
| Bod1l |
G |
T |
5: 41,976,040 (GRCm39) |
A1758E |
possibly damaging |
Het |
| Ctcfl |
T |
C |
2: 172,960,340 (GRCm39) |
D81G |
possibly damaging |
Het |
| Ddx39a |
C |
T |
8: 84,449,105 (GRCm39) |
R298C |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,096,823 (GRCm39) |
L577P |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,486,487 (GRCm39) |
N13I |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,320,878 (GRCm39) |
S104P |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,729,081 (GRCm39) |
N85K |
probably damaging |
Het |
| Epb41l4a |
T |
C |
18: 33,931,853 (GRCm39) |
T581A |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,433,307 (GRCm39) |
D446G |
possibly damaging |
Het |
| Fam209 |
G |
T |
2: 172,315,900 (GRCm39) |
G92C |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,115,027 (GRCm39) |
R193H |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,977,085 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
C |
T |
14: 70,876,313 (GRCm39) |
R49Q |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,939,077 (GRCm38) |
S2307P |
probably benign |
Het |
| Galr1 |
A |
G |
18: 82,423,695 (GRCm39) |
L194P |
probably benign |
Het |
| Gar1 |
T |
C |
3: 129,623,122 (GRCm39) |
H89R |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,267,362 (GRCm39) |
Y519F |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,396,554 (GRCm39) |
T601A |
probably benign |
Het |
| Gm10722 |
T |
"C,A" |
9: 3,001,405 (GRCm39) |
|
probably null |
Het |
| Gm5142 |
C |
T |
14: 59,416,119 (GRCm39) |
R13H |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,615,038 (GRCm39) |
W481G |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
| Hpse2 |
A |
C |
19: 42,920,099 (GRCm39) |
|
probably null |
Het |
| Hspb7 |
T |
C |
4: 141,151,302 (GRCm39) |
I148T |
probably damaging |
Het |
| Htr1d |
C |
A |
4: 136,170,788 (GRCm39) |
T339K |
probably damaging |
Het |
| Il4ra |
T |
A |
7: 125,174,709 (GRCm39) |
C306S |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,392,897 (GRCm39) |
C225S |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,581,329 (GRCm39) |
C596Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,199 (GRCm39) |
H1714R |
probably benign |
Het |
| Marchf6 |
C |
T |
15: 31,490,758 (GRCm39) |
V293M |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,945,075 (GRCm39) |
D100G |
probably damaging |
Het |
| Mettl14 |
G |
A |
3: 123,165,043 (GRCm39) |
T316I |
probably damaging |
Het |
| Mmp15 |
A |
T |
8: 96,098,945 (GRCm39) |
N591Y |
probably benign |
Het |
| Mrpl53 |
T |
C |
6: 83,086,518 (GRCm39) |
L74P |
probably damaging |
Het |
| Mvp |
C |
T |
7: 126,589,037 (GRCm39) |
V577M |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,139,388 (GRCm39) |
K140E |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,706,026 (GRCm39) |
V48A |
possibly damaging |
Het |
| Ngf |
G |
T |
3: 102,417,119 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3b |
C |
T |
4: 53,017,088 (GRCm39) |
A104V |
possibly damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,781,928 (GRCm39) |
Y375C |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,915,202 (GRCm39) |
Y764H |
probably damaging |
Het |
| Or13d1 |
A |
T |
4: 52,971,232 (GRCm39) |
I204F |
probably benign |
Het |
| Or2w25 |
G |
A |
11: 59,504,320 (GRCm39) |
V177M |
probably damaging |
Het |
| Or7e177 |
T |
G |
9: 20,212,387 (GRCm39) |
M297R |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,235 (GRCm39) |
Q10L |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,242,142 (GRCm39) |
I203V |
probably benign |
Het |
| Peg10 |
C |
A |
6: 4,755,711 (GRCm39) |
R96S |
possibly damaging |
Het |
| Pknox1 |
T |
A |
17: 31,823,764 (GRCm39) |
N379K |
probably benign |
Het |
| Prodh |
T |
G |
16: 17,895,677 (GRCm39) |
Q360P |
probably damaging |
Het |
| Raf1 |
C |
T |
6: 115,609,934 (GRCm39) |
G202S |
probably benign |
Het |
| Rgs11 |
T |
A |
17: 26,426,433 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
T |
11: 75,401,059 (GRCm39) |
H29L |
probably damaging |
Het |
| Rtel1 |
T |
C |
2: 180,962,839 (GRCm39) |
C31R |
probably damaging |
Het |
| Rubcnl |
T |
A |
14: 75,279,898 (GRCm39) |
I427K |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,751,460 (GRCm39) |
R3706L |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,729,434 (GRCm39) |
D2396G |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,025,954 (GRCm39) |
S435P |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,844,798 (GRCm39) |
V111A |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,116,608 (GRCm39) |
D881N |
possibly damaging |
Het |
| Sypl2 |
T |
A |
3: 108,126,411 (GRCm39) |
N67I |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 48,689,755 (GRCm39) |
Y1944C |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,062,246 (GRCm39) |
D2535E |
possibly damaging |
Het |
| Tkt |
T |
A |
14: 30,294,177 (GRCm39) |
I529N |
probably damaging |
Het |
| Trp53i11 |
T |
G |
2: 93,028,080 (GRCm39) |
V39G |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,761,659 (GRCm39) |
G997D |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,447,449 (GRCm39) |
V219A |
possibly damaging |
Het |
| Usp4 |
T |
A |
9: 108,268,870 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
G |
5: 102,065,277 (GRCm39) |
V1297A |
probably benign |
Het |
| Wdr46 |
T |
A |
17: 34,159,997 (GRCm39) |
F70I |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,998 (GRCm39) |
V303A |
unknown |
Het |
| Zdbf2 |
C |
T |
1: 63,343,165 (GRCm39) |
Q515* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,310,354 (GRCm39) |
Y731H |
possibly damaging |
Het |
|
| Other mutations in A2m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGATAGGAAACACTGAGGCACAA -3'
(R):5'- CCATACTCTGGCCTCCTTAGGAACTAC -3'
Sequencing Primer
(F):5'- atctatctacttatctatTGCTCCCC -3'
(R):5'- GGCCTCCTTAGGAACTACTTTCTAAC -3'
|
| Protein Function and Prediction |
Alpha-2-macroglobulin (A2m) is a homotetrameric plasma glycoprotein comprised of four 185-kD subunits arranged as a pair of dimers, each consisting of two disulfide-linked monomers (1). A2m functions as a broad spectrum protease inhibitor (e.g., trypsin, thrombin, and collagenase) (2). A2m has several domains that function as carriers of specific growth factors and/or binding sites for receptors. Upon protease-induced activation of A2m, changes in the interaction of A2m with the ligands induces cell signaling.
|
| Background |
Mutations in A2M are linked to alpha-2 macroglobulin deficiency (OMIM: #614036) and susceptibility to Alzheimer disease (OMIM: #104300). A2M deficiency has been linked to an instance of pulmonary disease (3), however, this link has not been substantiated. Mice lacking the A2m gene are viable and without obvious phenotypic abnormalities; however, they are more resistant to endotoxin (4). The link between A2m deficiency and endotoxin-insensitivity was suggested to be due to a loss in A2M association with TGF-beta and the subsequent loss of TGF-beta-receptor interactions (5).
|
| References |
1. Kan, C. C., Solomon, E., Belt, K. T., Chain, A. C., Hiorns, L. R., and Fey, G. (1985) Nucleotide Sequence of cDNA Encoding Human Alpha 2-Macroglobulin and Assignment of the Chromosomal Locus. Proc Natl Acad Sci U S A. 82, 2282-2286. 4. Umans, L., Serneels, L., Overbergh, L., Lorent, K., Van Leuven, F., and Van den Berghe, H. (1995) Targeted Inactivation of the Mouse Alpha 2-Macroglobulin Gene. J Biol Chem. 270, 19778-19785. 5. Webb, D. J., Wen, J., Lysiak, J. J., Umans, L., Van Leuven, F., and Gonias, S. L. (1996) Murine Alpha-Macroglobulins Demonstrate Divergent Activities as Neutralizers of Transforming Growth Factor-Beta and as Inducers of Nitric Oxide Synthesis. A Possible Mechanism for the Endotoxin Insensitivity of the alpha2-Macroglobulin Gene Knock-Out Mouse. J Biol Chem. 271, 24982-24988. |
| Posted On |
2013-07-24 |
| Science Writer |
Anne Murray |
Incidental Mutation