Mutagenetix > Incidental Mutation

Incidental Mutation 'R2196:Acvr2a'

238338

Institutional Source

Beutler Lab

Gene Symbol

Acvr2a

Ensembl Gene

ENSMUSG00000052155

Gene Name

activin receptor IIA

Synonyms

Acvr2, ActRIIa, tActRII

MMRRC Submission

040198-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48704121-48793276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48760324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 27 (T27S)

Ref Sequence

ENSEMBL: ENSMUSP00000067305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063886]

AlphaFold

P27038

PDB Structure

CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF THE TYPE II ACTIVIN RECEPTOR [X-RAY DIFFRACTION]
Crystal Structure of the BMP7/ActRII Extracellular Domain Complex [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063886
AA Change: T27S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: T27S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Activin_recp	28	118	5e-10	PFAM
transmembrane domain	139	161	N/A	INTRINSIC
Pfam:Pkinase_Tyr	192	479	1.2e-31	PFAM
Pfam:Pkinase	196	481	7.6e-34	PFAM
low complexity region	486	502	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
PHENOTYPE: While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	A	13: 12,290,065 (GRCm39)	T734S	probably damaging	Het
Ankhd1	T	A	18: 36,781,432 (GRCm39)	N2161K	probably damaging	Het
Apba3	A	G	10: 81,107,542 (GRCm39)	Y350C	probably damaging	Het
Bnipl	T	A	3: 95,157,181 (GRCm39)	R47S	possibly damaging	Het
Cacna1b	C	T	2: 24,651,800 (GRCm39)	M126I	probably damaging	Het
Cep112	G	A	11: 108,461,187 (GRCm39)	E329K	probably damaging	Het
Cep55	T	A	19: 38,057,558 (GRCm39)	Y187N	probably damaging	Het
Cngb3	T	C	4: 19,415,690 (GRCm39)	I400T	possibly damaging	Het
Csad	T	C	15: 102,096,028 (GRCm39)	N142D	probably benign	Het
Dars1	A	T	1: 128,306,595 (GRCm39)	I195N	probably damaging	Het
Dmxl1	T	A	18: 50,050,698 (GRCm39)	L2454Q	probably benign	Het
Emc1	A	T	4: 139,093,841 (GRCm39)	E650D	probably benign	Het
Enam	A	G	5: 88,650,603 (GRCm39)	D704G	probably damaging	Het
Fat1	T	A	8: 45,477,683 (GRCm39)	I2220N	probably damaging	Het
Fat4	T	C	3: 39,035,566 (GRCm39)	S3073P	probably benign	Het
Fbxl4	T	C	4: 22,403,624 (GRCm39)	M399T	probably benign	Het
Gcsh	G	A	8: 117,715,909 (GRCm39)	T58M	possibly damaging	Het
Ghrhr	T	C	6: 55,356,726 (GRCm39)	Y108H	probably damaging	Het
Gm5431	A	T	11: 48,780,058 (GRCm39)	I566N	probably damaging	Het
Gnb5	A	T	9: 75,234,511 (GRCm39)	D70V	probably damaging	Het
Grin2c	G	T	11: 115,141,492 (GRCm39)	S875R	probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Krt87	T	C	15: 101,336,314 (GRCm39)	E113G	probably damaging	Het
Map4	A	G	9: 109,900,116 (GRCm39)	E934G	probably damaging	Het
Mkx	A	G	18: 7,000,675 (GRCm39)	L89P	probably damaging	Het
Myo15a	T	A	11: 60,400,847 (GRCm39)	Y2982*	probably null	Het
Nedd4	C	T	9: 72,632,356 (GRCm39)	L397F	possibly damaging	Het
Nom1	A	G	5: 29,641,019 (GRCm39)	D353G	probably benign	Het
Notch1	A	T	2: 26,353,816 (GRCm39)	L1937*	probably null	Het
Nrxn2	A	T	19: 6,540,139 (GRCm39)	D820V	probably damaging	Het
Nup210	A	T	6: 91,032,226 (GRCm39)	N47K	probably benign	Het
Or1j12	T	A	2: 36,342,600 (GRCm39)	M1K	probably null	Het
Or4p21	G	A	2: 88,277,054 (GRCm39)	T76I	probably benign	Het
Or6d14	A	T	6: 116,533,578 (GRCm39)	Q64L	probably damaging	Het
Pcolce2	A	T	9: 95,576,742 (GRCm39)	I338F	probably damaging	Het
Pkd1	T	C	17: 24,799,046 (GRCm39)	M2755T	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Rab3a	T	C	8: 71,209,872 (GRCm39)	S51P	probably benign	Het
Scn10a	G	A	9: 119,438,070 (GRCm39)	A1933V	probably benign	Het
Serpina1c	T	A	12: 103,862,370 (GRCm39)	Y315F	probably damaging	Het
Slc29a4	A	C	5: 142,698,650 (GRCm39)	I104L	possibly damaging	Het
Spag16	G	A	1: 69,897,681 (GRCm39)	V144I	possibly damaging	Het
Spata22	A	G	11: 73,236,660 (GRCm39)	K322R	probably benign	Het
Sult2a8	T	A	7: 14,161,778 (GRCm39)	I23L	probably benign	Het
Thoc1	T	A	18: 9,986,300 (GRCm39)	V344D	probably damaging	Het
Tnn	G	C	1: 159,924,798 (GRCm39)	Y1185*	probably null	Het
Trpc4	A	G	3: 54,209,614 (GRCm39)	I660V	probably benign	Het
Urb1	A	G	16: 90,571,144 (GRCm39)	Y1222H	probably benign	Het
Usp4	A	G	9: 108,250,885 (GRCm39)	E531G	probably benign	Het
Vmn2r93	C	T	17: 18,525,428 (GRCm39)	S362L	probably damaging	Het
Zfhx3	G	T	8: 109,526,885 (GRCm39)	E927D	probably damaging	Het
Zfp644	A	T	5: 106,786,469 (GRCm39)	M1K	probably null	Het
Zp2	T	C	7: 119,737,529 (GRCm39)	H252R	probably benign	Het

Other mutations in Acvr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:Acvr2a	APN	2	48,763,064 (GRCm39)	splice site	probably benign
IGL01551:Acvr2a	APN	2	48,787,071 (GRCm39)	missense	probably damaging	1.00
IGL01913:Acvr2a	APN	2	48,789,625 (GRCm39)	missense	probably damaging	1.00
IGL02100:Acvr2a	APN	2	48,788,630 (GRCm39)	splice site	probably benign
IGL02210:Acvr2a	APN	2	48,788,538 (GRCm39)	missense	probably damaging	0.99
R0864:Acvr2a	UTSW	2	48,784,798 (GRCm39)	splice site	probably benign
R1371:Acvr2a	UTSW	2	48,789,628 (GRCm39)	missense	probably damaging	1.00
R1676:Acvr2a	UTSW	2	48,763,095 (GRCm39)	missense	probably benign	0.00
R2876:Acvr2a	UTSW	2	48,782,190 (GRCm39)	missense	probably damaging	1.00
R3721:Acvr2a	UTSW	2	48,782,150 (GRCm39)	missense	probably damaging	1.00
R3763:Acvr2a	UTSW	2	48,760,331 (GRCm39)	missense	possibly damaging	0.87
R4401:Acvr2a	UTSW	2	48,789,714 (GRCm39)	missense	probably benign
R4724:Acvr2a	UTSW	2	48,760,447 (GRCm39)	missense	probably damaging	1.00
R4921:Acvr2a	UTSW	2	48,783,553 (GRCm39)	missense	possibly damaging	0.51
R5060:Acvr2a	UTSW	2	48,780,311 (GRCm39)	missense	probably damaging	0.96
R5347:Acvr2a	UTSW	2	48,782,166 (GRCm39)	missense	probably damaging	1.00
R5953:Acvr2a	UTSW	2	48,780,416 (GRCm39)	missense	probably damaging	1.00
R6892:Acvr2a	UTSW	2	48,787,087 (GRCm39)	missense	probably damaging	1.00
R7594:Acvr2a	UTSW	2	48,784,749 (GRCm39)	nonsense	probably null
R7876:Acvr2a	UTSW	2	48,760,439 (GRCm39)	missense	probably benign	0.01
R8123:Acvr2a	UTSW	2	48,763,384 (GRCm39)	missense	probably damaging	0.99
R8296:Acvr2a	UTSW	2	48,789,736 (GRCm39)	missense	possibly damaging	0.95
R8868:Acvr2a	UTSW	2	48,763,469 (GRCm39)	missense	probably benign	0.00
R9034:Acvr2a	UTSW	2	48,763,381 (GRCm39)	missense	probably damaging	1.00
R9181:Acvr2a	UTSW	2	48,760,307 (GRCm39)	missense	probably damaging	0.99
Z1088:Acvr2a	UTSW	2	48,760,385 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCTAAAGCATGGCCATTC -3'
(R):5'- GAAGGAAAGTCACTGAACTCCATC -3'

Sequencing Primer
(F):5'- GCATGGCCATTCAAATGCAAAGTTG -3'
(R):5'- GTCATAGCAGTTGATATCATCCAGCC -3'

Posted On

2014-10-02