Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:A2m'

508598

Institutional Source

Beutler Lab

Gene Symbol

A2m

Ensembl Gene

ENSMUSG00000030111

Gene Name

alpha-2-macroglobulin

Synonyms

A2mp

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121612920-121656197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121631440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 579 (H579L)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

AlphaFold

Q6GQT1

Predicted Effect

probably benign
Transcript: ENSMUST00000032203
AA Change: H579L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: H579L

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

noncoding transcript
Transcript: ENSMUST00000203413

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly 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
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'- AATGGCCAGTTTGGGAAGC -3'
(R):5'- GTGCTTGTCATCTCCAAGGC -3'

Sequencing Primer
(F):5'- ACCATGACAGTTGTCTGACAG -3'
(R):5'- TTGTCATCTCCAAGGCTGACAGG -3'

Posted On

2018-03-15