Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01672:A2m'

103513

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 #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

121612920-121656197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121618316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 203 (E203G)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032203] [ENSMUST00000204850]

AlphaFold

Q6GQT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032203
AA Change: E203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: E203G

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

probably benign
Transcript: ENSMUST00000204850

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	G	T	7: 144,209,412 (GRCm39)	Q206K	probably damaging	Het
Ap4e1	T	A	2: 126,894,109 (GRCm39)	S620T	probably damaging	Het
Arfip1	A	T	3: 84,455,339 (GRCm39)		probably benign	Het
Atp8a2	A	T	14: 59,928,982 (GRCm39)	M1024K	probably benign	Het
Brap	T	C	5: 121,816,908 (GRCm39)		probably benign	Het
Calcrl	T	A	2: 84,175,414 (GRCm39)	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,755,992 (GRCm39)		probably null	Het
Cpb1	T	A	3: 20,329,585 (GRCm39)	Q47L	probably null	Het
Cse1l	T	C	2: 166,771,887 (GRCm39)	I402T	probably damaging	Het
Dnah17	A	G	11: 117,932,986 (GRCm39)	S3591P	probably damaging	Het
Dst	T	G	1: 34,264,774 (GRCm39)	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884 (GRCm39)	R2194*	probably null	Het
Ecpas	A	G	4: 58,814,041 (GRCm39)	V1355A	probably benign	Het
Eno4	A	G	19: 58,931,977 (GRCm39)	N30S	possibly damaging	Het
Ero1a	A	C	14: 45,529,887 (GRCm39)	S349A	probably benign	Het
Fat1	C	T	8: 45,493,737 (GRCm39)	T3938I	probably benign	Het
Focad	T	C	4: 88,278,827 (GRCm39)		probably null	Het
Gnai3	A	T	3: 108,016,775 (GRCm39)	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,643 (GRCm39)	V221A	probably benign	Het
Gpr153	C	A	4: 152,364,370 (GRCm39)	S142*	probably null	Het
Itpr1	C	A	6: 108,357,993 (GRCm39)	Y557*	probably null	Het
Nat8f5	A	G	6: 85,794,934 (GRCm39)	Y9H	probably damaging	Het
Nbas	T	C	12: 13,429,650 (GRCm39)	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,828,883 (GRCm39)	V1047A	possibly damaging	Het
Or2t48	A	C	11: 58,419,948 (GRCm39)	L288R	probably benign	Het
Or5p1	T	A	7: 107,916,725 (GRCm39)	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,899,881 (GRCm39)	T178I	probably damaging	Het
Palld	T	A	8: 62,330,536 (GRCm39)	I114F	probably benign	Het
Pcca	A	T	14: 122,927,557 (GRCm39)	Y440F	probably benign	Het
Pclo	T	C	5: 14,728,549 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,827,037 (GRCm39)	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,807,471 (GRCm39)	Y189F	possibly damaging	Het
Plscr3	A	G	11: 69,738,508 (GRCm39)	K91R	possibly damaging	Het
Rars1	A	T	11: 35,699,380 (GRCm39)	C638S	probably damaging	Het
Relb	T	A	7: 19,345,619 (GRCm39)	H406L	probably benign	Het
Ros1	G	T	10: 51,977,899 (GRCm39)	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,146,067 (GRCm39)	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,582,278 (GRCm39)	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,170,930 (GRCm39)	M1931K	probably benign	Het
Sphk2	T	C	7: 45,361,077 (GRCm39)	D309G	possibly damaging	Het
Stil	T	C	4: 114,889,986 (GRCm39)	S825P	probably damaging	Het
Swt1	C	T	1: 151,270,359 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,792 (GRCm39)	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,338,846 (GRCm39)	H362Q	probably benign	Het
Zfp451	C	A	1: 33,801,247 (GRCm39)	M1056I	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	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
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
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

2014-01-21