Mutagenetix > Incidental Mutation

Incidental Mutation 'R2235:A2m'

240389

Institutional Source

Beutler Lab

Gene Symbol

A2m

Ensembl Gene

ENSMUSG00000030111

Gene Name

alpha-2-macroglobulin

Synonyms

A2mp

MMRRC Submission

040236-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121612920-121656197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121619023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 256 (V256A)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

AlphaFold

Q6GQT1

Predicted Effect

probably benign
Transcript: ENSMUST00000032203
AA Change: V256A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: V256A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adcy2	A	T	13: 68,816,611 (GRCm39)	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,474,569 (GRCm39)	K478R	probably benign	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Bach1	A	G	16: 87,517,001 (GRCm39)	D514G	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 75,310,830 (GRCm39)	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Cts6	T	A	13: 61,343,247 (GRCm39)	I325F	probably damaging	Het
Dnah6	T	C	6: 73,077,068 (GRCm39)	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Fhip1a	A	T	3: 85,568,408 (GRCm39)	L1037Q	probably damaging	Het
Fndc11	A	G	2: 180,864,067 (GRCm39)	S291G	possibly damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,437,038 (GRCm39)	S113P	probably benign	Het
Mto1	A	C	9: 78,364,846 (GRCm39)	T362P	possibly damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Or10a3	A	G	7: 108,480,172 (GRCm39)	F214L	probably benign	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Pld3	G	A	7: 27,240,532 (GRCm39)	T136M	probably benign	Het
Prph2	A	T	17: 47,222,092 (GRCm39)	D157V	probably damaging	Het
Racgap1	A	G	15: 99,524,417 (GRCm39)	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,527,544 (GRCm39)	E617G	probably benign	Het
Smap1	T	C	1: 23,898,139 (GRCm39)	N99S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Sox4	C	T	13: 29,136,613 (GRCm39)	R131Q	probably damaging	Het
Spaca6	T	C	17: 18,058,507 (GRCm39)		probably null	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tpr	T	A	1: 150,317,843 (GRCm39)	F2117Y	probably benign	Het
Traf5	T	C	1: 191,738,806 (GRCm39)	M125V	probably damaging	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,793,712 (GRCm39)	S340R	probably damaging	Het
Vit	T	C	17: 78,912,867 (GRCm39)	S267P	probably benign	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Zfp990	T	A	4: 145,264,461 (GRCm39)	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,719,098 (GRCm39)	S373P	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
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
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'- TTGCAGAGTGGAGTTACCTTTAC -3'
(R):5'- CCCCACTTCACTGACAGTTATAG -3'

Sequencing Primer
(F):5'- CTGAAGAGCAGCCACTAA -3'
(R):5'- CCACTTCACTGACAGTTATAGAAATG -3'

Posted On

2014-10-15