Mutagenetix > Incidental Mutation

Incidental Mutation 'R9325:A2m'

706456

Institutional Source

Beutler Lab

Gene Symbol

A2m

Ensembl Gene

ENSMUSG00000030111

Gene Name

alpha-2-macroglobulin

Synonyms

A2mp

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121612920-121656197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121646578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1076 (D1076G)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

AlphaFold

Q6GQT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032203
AA Change: D1076G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: D1076G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,862 (GRCm39)	N185K	probably benign	Het
Adamts9	T	C	6: 92,849,279 (GRCm39)	D1060G	probably benign	Het
Ahnak	T	A	19: 8,991,257 (GRCm39)	D4180E	probably benign	Het
Ank2	A	C	3: 126,775,504 (GRCm39)	F42V	probably damaging	Het
Ankib1	A	G	5: 3,822,523 (GRCm39)	I61T	possibly damaging	Het
Arhgap9	T	C	10: 127,161,722 (GRCm39)	S238P	probably damaging	Het
Bpifa3	A	T	2: 153,975,600 (GRCm39)	I57F	probably damaging	Het
Cdh17	A	G	4: 11,810,319 (GRCm39)	Y670C	probably damaging	Het
Ceacam20	C	A	7: 19,720,607 (GRCm39)	R515S	probably benign	Het
Cers5	A	T	15: 99,637,338 (GRCm39)	V274E	probably damaging	Het
Clip1	T	C	5: 123,751,186 (GRCm39)	D865G		Het
Cnih3	G	A	1: 181,181,072 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,609 (GRCm39)	H44N	probably benign	Het
Cuta	A	G	17: 27,158,289 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,415,402 (GRCm39)	I625V	possibly damaging	Het
Ddx4	A	T	13: 112,736,441 (GRCm39)	F643Y	probably damaging	Het
Dlc1	A	T	8: 37,038,518 (GRCm39)	V1020E	possibly damaging	Het
Dnah1	G	T	14: 30,998,160 (GRCm39)	T2559K	possibly damaging	Het
Eng	C	T	2: 32,561,445 (GRCm39)	A152V	probably damaging	Het
F7	G	T	8: 13,083,430 (GRCm39)	R190L	probably benign	Het
Fcgr4	T	C	1: 170,847,711 (GRCm39)	V103A	probably damaging	Het
Fer1l4	C	T	2: 155,877,934 (GRCm39)	V1005I	probably damaging	Het
Fmod	A	T	1: 133,968,371 (GRCm39)	H137L	probably damaging	Het
Fndc7	T	C	3: 108,790,834 (GRCm39)	D64G	possibly damaging	Het
Gucy2c	A	T	6: 136,743,992 (GRCm39)	C202*	probably null	Het
Hspg2	C	T	4: 137,265,552 (GRCm39)	R1783W	probably damaging	Het
Hyal6	T	A	6: 24,743,455 (GRCm39)	S384T	probably damaging	Het
Igsf21	T	A	4: 139,794,466 (GRCm39)	I136F	probably damaging	Het
Isl1	A	G	13: 116,436,105 (GRCm39)	S321P	probably damaging	Het
Kif5c	A	G	2: 49,639,378 (GRCm39)	K813R	probably benign	Het
Klk7	A	G	7: 43,461,437 (GRCm39)	E18G	possibly damaging	Het
Lox	T	C	18: 52,661,400 (GRCm39)	M225V	probably benign	Het
Lrrfip2	T	A	9: 110,990,429 (GRCm39)	M50K	possibly damaging	Het
Lrrn2	A	T	1: 132,865,241 (GRCm39)	Q102L	probably damaging	Het
Mcm3	T	C	1: 20,875,562 (GRCm39)	R692G	probably benign	Het
Mmp14	T	C	14: 54,676,248 (GRCm39)	V326A	probably damaging	Het
Muc2	G	A	7: 141,298,559 (GRCm39)	M70I		Het
Nefl	T	C	14: 68,322,460 (GRCm39)		probably null	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nup188	T	A	2: 30,212,271 (GRCm39)	L586Q	probably damaging	Het
Or10ag58	G	A	2: 87,265,290 (GRCm39)	G153D	possibly damaging	Het
Or8c13	T	C	9: 38,091,327 (GRCm39)	D264G	probably benign	Het
Pik3c2a	A	T	7: 115,990,558 (GRCm39)	D467E	probably damaging	Het
Polr2g	T	A	19: 8,774,669 (GRCm39)	K71N	probably benign	Het
Pramel31	A	G	4: 144,089,093 (GRCm39)	H137R	probably benign	Het
Prkci	A	G	3: 31,085,333 (GRCm39)	K184R	probably damaging	Het
Prr15	G	A	6: 54,306,137 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,727,819 (GRCm39)	N896K	probably benign	Het
Ryr3	T	C	2: 112,479,640 (GRCm39)	E4414G	probably damaging	Het
Slc4a4	T	A	5: 89,376,756 (GRCm39)	D994E	probably damaging	Het
Slc6a4	C	A	11: 76,909,999 (GRCm39)	P418Q	probably benign	Het
Smarcc2	T	A	10: 128,324,076 (GRCm39)	M1138K	unknown	Het
Snph	C	T	2: 151,436,208 (GRCm39)	R240Q	probably damaging	Het
Stox2	T	A	8: 47,647,095 (GRCm39)	T122S	probably benign	Het
Tmem131l	T	C	3: 83,817,768 (GRCm39)	D1244G	probably benign	Het
Tmem168	T	C	6: 13,583,253 (GRCm39)	I543V	probably benign	Het
Tyw1	T	C	5: 130,291,762 (GRCm39)	S77P	probably damaging	Het
Usp36	T	G	11: 118,160,031 (GRCm39)	D471A	possibly damaging	Het
Vmn2r102	A	G	17: 19,897,558 (GRCm39)	Y191C	probably damaging	Het
Vmn2r104	T	C	17: 20,268,433 (GRCm39)	Q12R	possibly damaging	Het
Zfp820	A	T	17: 22,038,380 (GRCm39)	I316N	probably damaging	Het
Zscan4-ps3	T	C	7: 11,344,227 (GRCm39)	F62L	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
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
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'- TCTGGAAGCATTTTCTTGTGAAGAG -3'
(R):5'- ATATCCACTCCCGAGCAATG -3'

Sequencing Primer
(F):5'- GAGGCTCTAAAATCATTGTAACAGC -3'
(R):5'- CCGAGCAATGCATCACAATTAATATG -3'

Posted On

2022-04-18