Mutagenetix > Incidental Mutations

Incidental Mutation 'R7167:A2m'

557981

Institutional Source

Beutler Lab

Gene Symbol

A2m

Ensembl Gene

ENSMUSG00000030111

Gene Name

alpha-2-macroglobulin

Synonyms

A2mp

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_175628.3; MGI:2449119

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121635376-121679227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121647971 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 436 (V436A)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032203
AA Change: V436A

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

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: V436A

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

Validation Efficiency

94% (65/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,405,501	T111A	possibly damaging	Het
Acsbg2	T	A	17: 56,857,000	D203V	probably benign	Het
Alpk2	G	T	18: 65,306,978	T448K	probably benign	Het
Arhgef2	A	G	3: 88,643,872	N780S	possibly damaging	Het
Atxn2l	T	C	7: 126,499,222	N252S	possibly damaging	Het
Bmpr1b	A	T	3: 141,863,080	L163Q	probably benign	Het
Clca2	T	C	3: 145,097,784	R100G	probably benign	Het
Col2a1	A	G	15: 98,000,456	I79T	unknown	Het
Csmd1	A	G	8: 15,926,524	V2898A	probably benign	Het
Cux1	G	A	5: 136,310,041		probably null	Het
Cyp2u1	A	G	3: 131,303,124	S2P	probably benign	Het
Daam1	C	A	12: 71,988,904	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,503,776	V2412I	probably benign	Het
Ergic2	T	C	6: 148,206,635	R2G	probably damaging	Het
Fam159b	A	G	13: 104,863,658	V19A	probably damaging	Het
Fat2	T	C	11: 55,285,001	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,459,778		probably benign	Het
Fut8	T	C	12: 77,448,632	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,727,389	S113P	probably damaging	Het
Gm6502	G	A	5: 94,317,125	A457T	possibly damaging	Het
Hfe	A	T	13: 23,708,069	V104E	probably damaging	Het
Ifih1	A	T	2: 62,598,896	N899K	probably benign	Het
Krt75	A	G	15: 101,568,315	S380P	possibly damaging	Het
Meiob	T	G	17: 24,836,445	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,585,513	I163N	probably damaging	Het
Nanos1	G	T	19: 60,756,608	G115W	probably damaging	Het
Naprt	C	T	15: 75,892,612	A276T	probably damaging	Het
Oas1e	G	T	5: 120,795,422	T26N	probably benign	Het
Olfr1179	A	G	2: 88,402,208	V242A	possibly damaging	Het
Olfr1279	T	C	2: 111,306,448	M81T	probably benign	Het
Olfr355	T	C	2: 36,927,521	I198V	probably benign	Het
Olfr53	T	A	7: 140,652,553	C191*	probably null	Het
Olfr766-ps1	T	G	10: 129,063,272	Q245P	probably damaging	Het
Olfr792	T	C	10: 129,540,738	L67P	possibly damaging	Het
Olfr967	T	C	9: 39,750,569	F61S	probably damaging	Het
Oog2	T	G	4: 144,195,175	D218E	probably benign	Het
Optn	T	C	2: 5,042,483	N207S	probably benign	Het
Oxnad1	G	T	14: 32,101,019	E236*	probably null	Het
Pcdha3	G	A	18: 36,946,993	A263T	probably damaging	Het
Pex13	A	T	11: 23,655,472	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,397,069	E49D	probably benign	Het
Plau	C	A	14: 20,839,450	F194L	possibly damaging	Het
Ppm1n	A	G	7: 19,279,741	L95S	probably damaging	Het
Radil	G	T	5: 142,485,505		probably null	Het
Ralgapa2	C	T	2: 146,348,454	M1266I	probably benign	Het
Reln	A	T	5: 21,942,620	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,437,077	V260A	probably benign	Het
Rnase2b	T	A	14: 51,162,765	V101E	probably damaging	Het
Rtp3	T	A	9: 110,986,704	T198S	probably benign	Het
Smad3	T	A	9: 63,666,153	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Spata7	T	G	12: 98,664,296	F371C	probably damaging	Het
Stag1	T	G	9: 100,945,889	N990K	probably benign	Het
Tbx18	C	T	9: 87,707,830	A352T	probably damaging	Het
Thada	C	T	17: 84,230,963	R1539Q	probably benign	Het
Thrap3	A	C	4: 126,185,127		probably benign	Het
Tnks	G	A	8: 34,849,304	T887M	probably damaging	Het
Trap1	A	C	16: 4,052,928	V393G	probably damaging	Het
Trpm4	A	G	7: 45,327,719		probably null	Het
Trrap	G	T	5: 144,839,614	G3007C	probably benign	Het
U2surp	A	T	9: 95,481,673	N611K	probably damaging	Het
Usp12	A	G	5: 146,768,935		probably null	Het
Vmn1r200	A	G	13: 22,395,317	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,574,179	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256	T905M	probably damaging	Het
Wdr48	T	A	9: 119,907,789		probably null	Het
Zfp446	C	T	7: 12,978,122		probably benign	Het
Zfr	T	C	15: 12,180,929	S1012P	probably benign	Het

Other mutations in A2m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:A2m	APN	6	121644149	missense	possibly damaging	0.67
IGL00798:A2m	APN	6	121671010	missense	probably damaging	1.00
IGL01154:A2m	APN	6	121673542	nonsense	probably null
IGL01313:A2m	APN	6	121645010	critical splice donor site	probably null
IGL01337:A2m	APN	6	121668570	missense	probably damaging	0.98
IGL01505:A2m	APN	6	121676947	missense	possibly damaging	0.83
IGL01508:A2m	APN	6	121659367	nonsense	probably null
IGL01672:A2m	APN	6	121641357	missense	probably damaging	1.00
IGL01951:A2m	APN	6	121667190	missense	possibly damaging	0.78
IGL02012:A2m	APN	6	121674861	missense	probably damaging	1.00
IGL02066:A2m	APN	6	121649895	missense	probably damaging	1.00
IGL02234:A2m	APN	6	121668220	missense	possibly damaging	0.67
IGL02397:A2m	APN	6	121646875	missense	probably benign
IGL02407:A2m	APN	6	121668616	nonsense	probably null
IGL02408:A2m	APN	6	121644171	missense	probably damaging	0.99
IGL02469:A2m	APN	6	121668115	missense	probably damaging	1.00
IGL02527:A2m	APN	6	121661433	missense	probably damaging	0.99
IGL02612:A2m	APN	6	121678012	missense	probably benign
IGL02746:A2m	APN	6	121669503	splice site	probably benign
IGL02952:A2m	APN	6	121678025	missense	probably damaging	0.99
IGL03056:A2m	APN	6	121670903	missense	probably damaging	0.96
IGL03121:A2m	APN	6	121641306	missense	probably benign	0.02
IGL03303:A2m	APN	6	121667163	missense	probably damaging	1.00
IGL03369:A2m	APN	6	121676903	critical splice acceptor site	probably null
IGL03046:A2m	UTSW	6	121659323	missense	probably benign	0.04
R0040:A2m	UTSW	6	121645206	missense	possibly damaging	0.93
R0049:A2m	UTSW	6	121638308	missense	possibly damaging	0.77
R0049:A2m	UTSW	6	121638308	missense	possibly damaging	0.77
R0109:A2m	UTSW	6	121659303	missense	probably benign	0.00
R0147:A2m	UTSW	6	121662446	critical splice donor site	probably null
R0148:A2m	UTSW	6	121662446	critical splice donor site	probably null
R0345:A2m	UTSW	6	121638272	splice site	probably benign
R0445:A2m	UTSW	6	121657955	missense	probably damaging	1.00
R0766:A2m	UTSW	6	121676890	splice site	probably benign
R1186:A2m	UTSW	6	121661534	missense	probably benign	0.00
R1436:A2m	UTSW	6	121644213	missense	probably benign	0.09
R1452:A2m	UTSW	6	121678056	missense	probably benign	0.01
R1636:A2m	UTSW	6	121654612	missense	probably benign	0.04
R1637:A2m	UTSW	6	121654612	missense	probably benign	0.04
R1638:A2m	UTSW	6	121654612	missense	probably benign	0.04
R1698:A2m	UTSW	6	121645158	missense	possibly damaging	0.88
R1776:A2m	UTSW	6	121641424	missense	probably damaging	1.00
R1791:A2m	UTSW	6	121654612	missense	probably benign	0.04
R1918:A2m	UTSW	6	121644936	missense	probably benign	0.16
R1921:A2m	UTSW	6	121654612	missense	probably benign	0.04
R1927:A2m	UTSW	6	121636379	missense	probably damaging	1.00
R1934:A2m	UTSW	6	121649833	missense	probably damaging	0.98
R1943:A2m	UTSW	6	121668547	missense	possibly damaging	0.90
R1996:A2m	UTSW	6	121669597	missense	probably damaging	1.00
R2039:A2m	UTSW	6	121659949	missense	probably benign	0.32
R2085:A2m	UTSW	6	121676959	missense	probably damaging	1.00
R2092:A2m	UTSW	6	121674937	nonsense	probably null
R2105:A2m	UTSW	6	121673500	missense	probably benign	0.04
R2107:A2m	UTSW	6	121654612	missense	probably benign	0.04
R2235:A2m	UTSW	6	121642064	missense	probably benign	0.21
R2292:A2m	UTSW	6	121673559	missense	possibly damaging	0.90
R2350:A2m	UTSW	6	121678088	splice site	probably benign
R3001:A2m	UTSW	6	121661447	missense	possibly damaging	0.88
R3002:A2m	UTSW	6	121661447	missense	possibly damaging	0.88
R3023:A2m	UTSW	6	121669572	missense	probably benign	0.08
R3429:A2m	UTSW	6	121636290	start codon destroyed	probably null
R3437:A2m	UTSW	6	121639294	missense	probably null	0.03
R3909:A2m	UTSW	6	121648166	missense	probably damaging	1.00
R4300:A2m	UTSW	6	121673475	missense	probably benign	0.00
R4332:A2m	UTSW	6	121657447	missense	probably benign	0.01
R4584:A2m	UTSW	6	121657406	missense	probably benign	0.07
R4697:A2m	UTSW	6	121638284	start codon destroyed	probably null	0.94
R4710:A2m	UTSW	6	121641303	missense	probably benign	0.03
R4841:A2m	UTSW	6	121646844	missense	probably benign	0.06
R5206:A2m	UTSW	6	121674807	missense	probably damaging	1.00
R5219:A2m	UTSW	6	121676950	missense	possibly damaging	0.90
R5230:A2m	UTSW	6	121674861	missense	probably damaging	1.00
R5330:A2m	UTSW	6	121638416	missense	probably benign	0.11
R5331:A2m	UTSW	6	121638416	missense	probably benign	0.11
R5377:A2m	UTSW	6	121645253	missense	probably benign
R5590:A2m	UTSW	6	121676932	missense	probably damaging	1.00
R5835:A2m	UTSW	6	121639336	missense	probably damaging	1.00
R5910:A2m	UTSW	6	121668117	missense	probably damaging	1.00
R5915:A2m	UTSW	6	121667163	missense	probably damaging	1.00
R5949:A2m	UTSW	6	121678073	missense	probably damaging	1.00
R5994:A2m	UTSW	6	121670903	missense	probably benign	0.38
R5996:A2m	UTSW	6	121659394	missense	probably damaging	1.00
R6035:A2m	UTSW	6	121638394	missense	probably damaging	0.99
R6035:A2m	UTSW	6	121638394	missense	probably damaging	0.99
R6090:A2m	UTSW	6	121648013	missense	probably benign	0.45
R6241:A2m	UTSW	6	121646829	missense	probably benign	0.09
R6294:A2m	UTSW	6	121654481	missense	probably benign
R6492:A2m	UTSW	6	121654505	missense	probably benign	0.35
R6554:A2m	UTSW	6	121641287	missense	probably damaging	1.00
R6597:A2m	UTSW	6	121648121	missense	probably damaging	1.00
R6742:A2m	UTSW	6	121678036	missense	probably benign	0.01
R6795:A2m	UTSW	6	121648322	splice site	probably null
R6843:A2m	UTSW	6	121638401	missense	probably benign	0.01
R7013:A2m	UTSW	6	121641386	missense	probably null	0.00
R7137:A2m	UTSW	6	121677985	missense	possibly damaging	0.85
R7294:A2m	UTSW	6	121673582	nonsense	probably null
R7452:A2m	UTSW	6	121641332	missense	probably damaging	1.00
R7507:A2m	UTSW	6	121675218	missense	probably benign	0.01
R7602:A2m	UTSW	6	121642007	missense	probably damaging	1.00
R7602:A2m	UTSW	6	121670936	missense	possibly damaging	0.79
R7709:A2m	UTSW	6	121660104	missense	possibly damaging	0.81
R7766:A2m	UTSW	6	121638341	missense	probably benign	0.08
R7921:A2m	UTSW	6	121677995	missense	probably benign	0.00
R8007:A2m	UTSW	6	121670886	intron	probably benign
R8291:A2m	UTSW	6	121678058	missense	probably damaging	1.00
R8542:A2m	UTSW	6	121657410	missense	probably benign	0.03
X0057:A2m	UTSW	6	121668176	missense	probably damaging	1.00
X0060:A2m	UTSW	6	121676080	missense	probably damaging	1.00
X0063:A2m	UTSW	6	121646876	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAAACTCAGGATGTTAGGTGGG -3'
(R):5'- AGCACAGCCTCGTCATTTAG -3'

Sequencing Primer
(F):5'- GCCACAAACCATGCCTATATTTAAG -3'
(R):5'- TTAGAATATAATGAGCCTGGACCGCC -3'

Posted On

2019-06-26