Mutagenetix > Incidental Mutation

Incidental Mutation 'R5915:A2m'

461254

Institutional Source

Beutler Lab

Gene Symbol

A2m

Ensembl Gene

ENSMUSG00000030111

Gene Name

alpha-2-macroglobulin

Synonyms

A2mp

MMRRC Submission

044112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121612920-121656197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121644122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 940 (V940E)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

AlphaFold

Q6GQT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032203
AA Change: V940E

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

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: V940E

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

Meta Mutation Damage Score

0.2514

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (60/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	T	16: 56,550,748 (GRCm39)		probably null	Het
Alox12e	T	C	11: 70,209,050 (GRCm39)	I399V	possibly damaging	Het
Apoa5	C	A	9: 46,180,607 (GRCm39)	Q42K	probably damaging	Het
Arfgap1	A	G	2: 180,620,215 (GRCm39)	Y243C	possibly damaging	Het
Arhgap12	A	G	18: 6,037,016 (GRCm39)		probably null	Het
Arl16	G	A	11: 120,357,431 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,370,577 (GRCm39)	D951G	probably damaging	Het
Babam2	T	A	5: 31,942,955 (GRCm39)	L80Q	probably damaging	Het
Celsr1	C	T	15: 85,822,176 (GRCm39)	V1714I	probably benign	Het
Celsr1	C	T	15: 85,914,550 (GRCm39)	R1141H	probably damaging	Het
Cep295	A	G	9: 15,252,775 (GRCm39)	L351P	probably damaging	Het
Dlc1	T	A	8: 37,405,829 (GRCm39)		probably benign	Het
Dpy30	G	T	17: 74,622,906 (GRCm39)	D25E	probably benign	Het
Drosha	T	C	15: 12,935,152 (GRCm39)	W998R	probably damaging	Het
Fibp	A	G	19: 5,513,644 (GRCm39)	D220G	possibly damaging	Het
Grm3	C	T	5: 9,561,927 (GRCm39)	C641Y	probably damaging	Het
Gulo	A	T	14: 66,245,570 (GRCm39)	V8D	probably benign	Het
Ifrd1	A	T	12: 40,263,095 (GRCm39)	C164S	possibly damaging	Het
Jam2	G	A	16: 84,606,295 (GRCm39)	S103N	probably benign	Het
Krtap17-1	T	C	11: 99,884,444 (GRCm39)	T108A	unknown	Het
Man2a2	A	G	7: 80,010,669 (GRCm39)	F774S	probably benign	Het
Map1b	G	A	13: 99,566,839 (GRCm39)	R1961W	unknown	Het
Mib2	A	G	4: 155,740,508 (GRCm39)		probably benign	Het
Mr1	A	T	1: 155,012,534 (GRCm39)	F127I	probably damaging	Het
Mrgprb2	A	G	7: 48,202,554 (GRCm39)	I57T	probably benign	Het
Ncan	G	T	8: 70,550,731 (GRCm39)	Y1154*	probably null	Het
Nfx1	T	A	4: 40,977,285 (GRCm39)	S320T	probably benign	Het
Nlrp4f	A	G	13: 65,335,369 (GRCm39)	L740P	probably damaging	Het
Nprl2	T	C	9: 107,422,277 (GRCm39)		probably benign	Het
Opn1sw	A	G	6: 29,379,754 (GRCm39)		probably null	Het
Or5bw2	A	T	7: 6,573,172 (GRCm39)	I61F	probably benign	Het
Palld	A	G	8: 61,986,386 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Rnf145	T	C	11: 44,433,549 (GRCm39)		probably null	Het
Sbf2	A	T	7: 109,977,303 (GRCm39)	C610*	probably null	Het
Sec24a	C	T	11: 51,646,964 (GRCm39)	A13T	probably benign	Het
Smim8	TCTCCTC	TCTC	4: 34,769,010 (GRCm39)		probably benign	Het
Sox8	A	C	17: 25,786,443 (GRCm39)	L420R	probably damaging	Het
Sry	C	G	Y: 2,662,612 (GRCm39)	Q349H	unknown	Het
Sspo	A	G	6: 48,441,530 (GRCm39)	D1889G	probably benign	Het
Sspo	A	T	6: 48,468,418 (GRCm39)	H4382L	possibly damaging	Het
Tmem65	T	C	15: 58,662,037 (GRCm39)	I141V	probably damaging	Het
Tpr	A	T	1: 150,301,400 (GRCm39)	T1329S	probably benign	Het
Trim17	C	T	11: 58,859,388 (GRCm39)	R201W	probably damaging	Het
Trim3	A	G	7: 105,267,182 (GRCm39)	L399P	possibly damaging	Het
Trim7	A	G	11: 48,736,477 (GRCm39)	D277G	possibly damaging	Het
Vstm2b	A	G	7: 40,552,107 (GRCm39)	N153S	possibly damaging	Het
Wnk2	G	T	13: 49,231,561 (GRCm39)	Q786K	probably damaging	Het
Wnk4	A	G	11: 101,154,720 (GRCm39)	*286W	probably null	Het
Xpot	A	T	10: 121,450,998 (GRCm39)	L134Q	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zc3h7a	G	A	16: 10,982,466 (GRCm39)	Q20*	probably null	Het
Zfp599	C	T	9: 22,161,130 (GRCm39)	C345Y	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
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'- AAAGGAACAGCTTTTCAGAAGTAGC -3'
(R):5'- GGTTGTATGACAAGTAAGCTCATG -3'

Sequencing Primer
(F):5'- GCTTCTGCTTAAGGGACAATTC -3'
(R):5'- TATGACAAGTAAGCTCATGAAAGTG -3'

Posted On

2017-02-28