Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:A2m'

702752

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121635376-121679227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121660906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 845 (S845P)

Ref Sequence

ENSEMBL: ENSMUSP00000032203 (fasta)

Gene Model

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

AlphaFold

Q6GQT1

Predicted Effect

probably benign
Transcript: ENSMUST00000032203
AA Change: S845P

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: S845P

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: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,219,016	Q1683P	probably damaging	Het
Actn1	T	A	12: 80,172,971	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,279,196	Y64C	probably damaging	Het
Anapc4	T	A	5: 52,861,278	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,404,062	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,340,499	N335D	probably damaging	Het
Arrdc2	G	A	8: 70,836,329	A354V	probably benign	Het
Atg2b	A	G	12: 105,652,100	S898P	probably damaging	Het
Atxn1	T	A	13: 45,557,204	T751S	probably benign	Het
Begain	T	A	12: 109,033,193	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,141,871	D15E	probably benign	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Card11	A	T	5: 140,906,761	M183K	probably damaging	Het
Cldn3	T	C	5: 134,986,725	L94P	probably damaging	Het
Clvs2	A	T	10: 33,543,426	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cop1	C	T	1: 159,288,983	P409L	probably benign	Het
Crhbp	C	A	13: 95,436,516	A241S	probably benign	Het
Cyfip1	C	A	7: 55,907,431	S794*	probably null	Het
D17Wsu92e	A	C	17: 27,786,075	Y169*	probably null	Het
Dlg5	T	A	14: 24,192,813	H172L	probably damaging	Het
Doc2a	T	A	7: 126,850,987	I199N	probably benign	Het
Dock3	T	C	9: 106,941,323	T1191A	probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Fcgr1	C	T	3: 96,285,838	R281H	probably benign	Het
Fndc10	T	C	4: 155,694,748	V83A	possibly damaging	Het
Galnt2	T	A	8: 124,338,463	I444K	probably benign	Het
Gcnt3	T	C	9: 70,034,008	Y426C	probably damaging	Het
Gm5580	C	T	6: 116,552,356	T398I	probably damaging	Het
Gtpbp1	C	T	15: 79,717,654	R533C	probably damaging	Het
Hid1	T	C	11: 115,361,676	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,920,541	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,654,945		probably null	Het
Klf10	A	G	15: 38,297,758	L44P	probably damaging	Het
Lamc3	T	C	2: 31,923,005	V1001A	probably benign	Het
Lamc3	C	A	2: 31,928,896	S1211*	probably null	Het
Lmx1a	T	A	1: 167,830,625	H192Q	probably benign	Het
Nkx2-4	T	C	2: 147,084,264	H226R	possibly damaging	Het
Olfr1046	T	C	2: 86,216,903	H269R	probably damaging	Het
Olfr1179	G	A	2: 88,402,242	R231C	probably benign	Het
Olfr1240	T	A	2: 89,439,932	M116L	probably damaging	Het
Olfr1281	T	C	2: 111,328,952	F178L	probably damaging	Het
Olfr1453	T	C	19: 13,027,630	H233R	probably benign	Het
Olfr1468-ps1	A	T	19: 13,375,640	N226I	unknown	Het
Olfr472	T	A	7: 107,903,320	I201N	possibly damaging	Het
Olfr715	T	C	7: 107,128,626	I256V	probably benign	Het
Olfr869	T	C	9: 20,137,461	M115T	probably damaging	Het
Orai3	G	T	7: 127,774,022	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,009,251	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,174,406	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,098,721	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,984,486	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plxna1	T	C	6: 89,329,559	R1430G	probably null	Het
Plxna4	T	C	6: 32,178,380	H1543R	probably benign	Het
Prcc	A	T	3: 87,869,731	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,809,988	L988P	probably damaging	Het
Rbm27	A	G	18: 42,327,507	T840A	probably benign	Het
Rchy1	G	T	5: 91,957,972	T39N	probably benign	Het
Rmi1	C	T	13: 58,409,026	T363I	probably benign	Het
Rnpc3	A	C	3: 113,611,246	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,909,398	V435E	probably benign	Het
Rwdd1	T	C	10: 34,012,099	T38A	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Sel1l3	T	C	5: 53,154,286	Y619C	probably damaging	Het
Sf3b3	T	C	8: 110,812,026	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,872,309	V102A	probably benign	Het
Sh2b1	T	C	7: 126,469,182	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,876,155	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,289,241	V889A	possibly damaging	Het
Spast	C	A	17: 74,339,074	S13*	probably null	Het
Srek1	T	C	13: 103,753,146		probably null	Het
Sugp1	G	T	8: 70,056,570	E164D	probably benign	Het
Synpo2	T	C	3: 123,117,324	D224G	probably benign	Het
Tanc1	A	G	2: 59,800,088	D804G	probably damaging	Het
Tep1	C	T	14: 50,844,309	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,342	C325S	probably benign	Het
Themis	T	C	10: 28,863,394	V620A	probably benign	Het
Trim17	T	C	11: 58,971,431	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,795,945	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955	S928P	unknown	Het
Vat1l	C	T	8: 114,289,432	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,606,838	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,601,232	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,751,203	I213V	probably benign	Het
Wdr89	T	A	12: 75,632,790	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,059,663	T334A	probably benign	Het
Zfp442	T	A	2: 150,409,367	H205L	probably benign	Het
Zfyve26	A	T	12: 79,276,302	I890N	possibly damaging	Het
Zic1	T	C	9: 91,364,320	E233G	probably damaging	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
R7167:A2m	UTSW	6	121647971	missense	probably benign
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
R8856:A2m	UTSW	6	121641390	missense	probably benign	0.00
R9023:A2m	UTSW	6	121659958	missense	possibly damaging	0.90
R9154:A2m	UTSW	6	121668553	missense	probably damaging	1.00
R9156:A2m	UTSW	6	121670998	missense	probably damaging	0.98
R9255:A2m	UTSW	6	121649836	missense	probably damaging	1.00
R9325:A2m	UTSW	6	121669619	missense	possibly damaging	0.81
R9393:A2m	UTSW	6	121639311	missense	possibly damaging	0.91
R9563:A2m	UTSW	6	121668050	missense	probably damaging	0.99
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'- CCCCTTCAAGTGCTGAGGTTTAC -3'
(R):5'- GTGCTTGCCATTCTGGAATG -3'

Sequencing Primer
(F):5'- TGCTAATGAATGGAGCATTGCACTG -3'
(R):5'- GGAAGTCAAAGAAAAGTGATCCTACC -3'

Posted On

2022-03-25