Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:A2m'

192405

Institutional Source

Beutler Lab

Gene Symbol

A2m

Ensembl Gene

ENSMUSG00000030111

Gene Name

alpha-2-macroglobulin

Synonyms

A2mp

MMRRC Submission

039731-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121612920-121656197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 121622117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 340 (E340A)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

AlphaFold

Q6GQT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032203
AA Change: E340A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: E340A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,507 (GRCm39)	D2963G	probably benign	Het
Actn3	T	C	19: 4,912,235 (GRCm39)	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 26,993,139 (GRCm39)	E723G	possibly damaging	Het
Agrn	G	T	4: 156,251,015 (GRCm39)	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,313,946 (GRCm39)	A426T	probably benign	Het
Atg9b	C	A	5: 24,593,186 (GRCm39)	G406C	probably damaging	Het
C1ra	A	T	6: 124,499,725 (GRCm39)	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cep350	T	C	1: 155,829,104 (GRCm39)	I267V	possibly damaging	Het
Chrna5	A	G	9: 54,911,926 (GRCm39)	Y138C	probably damaging	Het
Chst3	T	A	10: 60,021,525 (GRCm39)	M441L	probably benign	Het
Cmya5	G	A	13: 93,200,027 (GRCm39)	P3434S	probably benign	Het
Cog2	T	A	8: 125,252,422 (GRCm39)	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,272 (GRCm39)	I210F	probably benign	Het
Crnn	C	A	3: 93,055,765 (GRCm39)	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,298,422 (GRCm39)	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,761,874 (GRCm39)	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,516,587 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,593,426 (GRCm39)	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,970,239 (GRCm39)	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,532,813 (GRCm39)	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,110 (GRCm39)	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,324,151 (GRCm39)	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,670,520 (GRCm39)	W81G	probably benign	Het
Gyg1	T	A	3: 20,192,215 (GRCm39)	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,153,735 (GRCm39)	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,441,120 (GRCm39)	Q5379*	probably null	Het
Kank1	T	C	19: 25,388,681 (GRCm39)	C785R	probably benign	Het
Lrp1b	A	T	2: 40,741,818 (GRCm39)	C3036*	probably null	Het
Mdga2	T	C	12: 66,736,109 (GRCm39)	D373G	probably damaging	Het
Mgat2	A	T	12: 69,232,493 (GRCm39)	I356F	probably benign	Het
Miga2	A	G	2: 30,268,009 (GRCm39)	D346G	probably damaging	Het
Mprip	T	A	11: 59,651,084 (GRCm39)	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,943,622 (GRCm39)	R386Q	probably benign	Het
Mst1r	T	A	9: 107,797,179 (GRCm39)	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,442,825 (GRCm39)	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,398,969 (GRCm39)	Q460*	probably null	Het
Myo9a	T	C	9: 59,775,464 (GRCm39)	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,145,553 (GRCm39)	E1365K	probably null	Het
Nkiras2	C	A	11: 100,515,989 (GRCm39)	D105E	probably damaging	Het
Nolc1	T	G	19: 46,069,870 (GRCm39)		probably null	Het
Nos1	T	C	5: 118,005,297 (GRCm39)	F6L	probably benign	Het
Or10j3	A	T	1: 173,030,938 (GRCm39)	N5I	probably damaging	Het
Or12e1	G	T	2: 87,022,081 (GRCm39)	V17L	probably benign	Het
Or2t46	T	C	11: 58,472,077 (GRCm39)	Y136H	probably damaging	Het
Or2w1b	C	T	13: 21,300,735 (GRCm39)	T291I	probably benign	Het
Or4f54	T	A	2: 111,122,905 (GRCm39)	C97*	probably null	Het
Or8b46	T	A	9: 38,450,552 (GRCm39)	Y120*	probably null	Het
Pfkm	A	G	15: 98,026,199 (GRCm39)	E598G	possibly damaging	Het
Phf2	A	T	13: 48,961,106 (GRCm39)	D861E	unknown	Het
Polr2a	A	G	11: 69,630,703 (GRCm39)		probably null	Het
Popdc2	G	A	16: 38,189,853 (GRCm39)	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,793,114 (GRCm39)	S422P	probably benign	Het
Rasa2	T	C	9: 96,450,428 (GRCm39)	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,386,047 (GRCm39)	D286V	probably damaging	Het
Rdh13	A	G	7: 4,430,790 (GRCm39)	W223R	probably damaging	Het
Riok3	T	C	18: 12,261,986 (GRCm39)	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,591,081 (GRCm39)	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498 (GRCm39)	Q655*	probably null	Het
Rpap2	T	C	5: 107,751,416 (GRCm39)	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,600,428 (GRCm39)	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,252 (GRCm39)	G896*	probably null	Het
Spast	C	T	17: 74,663,155 (GRCm39)	Q158*	probably null	Het
Tas2r104	G	A	6: 131,662,547 (GRCm39)	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,604,951 (GRCm39)	W611*	probably null	Het
Thoc2l	C	T	5: 104,668,376 (GRCm39)	A966V	probably benign	Het
Timp4	G	A	6: 115,227,364 (GRCm39)		probably null	Het
Tmem45a	G	A	16: 56,643,933 (GRCm39)	S72L	probably benign	Het
Tnrc18	T	C	5: 142,774,458 (GRCm39)	T124A	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	C	2: 76,773,259 (GRCm39)	D2381G	probably damaging	Het
Uevld	T	C	7: 46,605,372 (GRCm39)	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc5d	T	C	8: 29,186,506 (GRCm39)	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,583,038 (GRCm39)	I59S	probably benign	Het
Vps72	G	A	3: 95,026,006 (GRCm39)	S106N	probably benign	Het
Zan	A	C	5: 137,407,931 (GRCm39)		probably benign	Het
Zbtb38	T	C	9: 96,567,515 (GRCm39)	K1190E	probably benign	Het
Zc3h6	T	C	2: 128,859,278 (GRCm39)	V1103A	probably benign	Het
Zfp407	G	A	18: 84,580,282 (GRCm39)	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,819,509 (GRCm39)	S1149P	probably 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
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
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'- TGAGATGCAGCTTGATGTGAATGCC -3'
(R):5'- ACCACAATGGAAAGTTGTCACAGGTC -3'

Sequencing Primer
(F):5'- GCTTGATGTGAATGCCAAGATCC -3'
(R):5'- GTCATTAGGTCATTGCAAAGGC -3'

Posted On

2014-05-14