Mutagenetix > Incidental Mutation

Incidental Mutation 'R3721:Acvr2a'

258888

Institutional Source

Beutler Lab

Gene Symbol

Acvr2a

Ensembl Gene

ENSMUSG00000052155

Gene Name

activin receptor IIA

Synonyms

Acvr2, ActRIIa, tActRII

MMRRC Submission

040712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48704121-48793276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48782150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 228 (S228P)

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

probably damaging
Transcript: ENSMUST00000063886
AA Change: S228P

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

SMART Domains

Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: S228P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156681

Meta Mutation Damage Score

0.7681

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	C	T	11: 50,664,038 (GRCm39)		probably benign	Het
Arhgap9	A	G	10: 127,164,840 (GRCm39)	E588G	possibly damaging	Het
Ash2l	C	G	8: 26,308,653 (GRCm39)	G453A	probably damaging	Het
Catsperg2	A	G	7: 29,404,527 (GRCm39)	V638A	probably benign	Het
Ccrl2	T	C	9: 110,885,432 (GRCm39)	D22G	probably benign	Het
Cdc73	T	C	1: 143,571,191 (GRCm39)	I83V	possibly damaging	Het
Ceacam23	A	G	7: 17,636,663 (GRCm39)	T247A	probably benign	Het
Clec2e	C	A	6: 129,071,373 (GRCm39)	E155*	probably null	Het
Cyp3a59	T	A	5: 146,033,407 (GRCm39)	M181K	probably damaging	Het
Dars2	A	T	1: 160,890,878 (GRCm39)	V111E	probably benign	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Eeig2	C	T	3: 108,887,083 (GRCm39)	R305Q	probably damaging	Het
Emilin2	T	C	17: 71,580,449 (GRCm39)	N759S	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Ggnbp1	T	C	17: 27,248,587 (GRCm39)	V52A	probably benign	Het
Gpr171	A	G	3: 59,005,091 (GRCm39)	V228A	possibly damaging	Het
Gsta3	T	C	1: 21,330,313 (GRCm39)	M55T	probably benign	Het
Hectd3	T	A	4: 116,856,942 (GRCm39)	N496K	probably benign	Het
Hp1bp3	T	G	4: 137,966,919 (GRCm39)	F367V	probably damaging	Het
Il18rap	T	A	1: 40,576,248 (GRCm39)	L253Q	probably damaging	Het
Irs1	C	T	1: 82,267,806 (GRCm39)	G137S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lair1	A	C	7: 4,013,782 (GRCm39)	L155R	probably damaging	Het
Larp7	A	G	3: 127,340,460 (GRCm39)	L126P	probably damaging	Het
Lhx1	G	A	11: 84,412,654 (GRCm39)	R89C	probably damaging	Het
Lypd4	C	A	7: 24,564,884 (GRCm39)	A85S	probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Myh10	G	T	11: 68,703,878 (GRCm39)	R1863L	probably damaging	Het
Myo9a	G	A	9: 59,775,463 (GRCm39)	V1025I	probably benign	Het
Naa25	T	A	5: 121,569,619 (GRCm39)	D659E	probably benign	Het
Nol9	A	G	4: 152,124,163 (GRCm39)	S118G	probably benign	Het
Or4k2	C	T	14: 50,424,137 (GRCm39)	C179Y	probably damaging	Het
Or5p72	G	T	7: 108,022,326 (GRCm39)	D183Y	probably damaging	Het
Pde10a	T	A	17: 9,188,421 (GRCm39)	I907N	probably damaging	Het
Pkhd1	T	C	1: 20,655,879 (GRCm39)	D218G	probably benign	Het
Poll	A	G	19: 45,542,016 (GRCm39)	I430T	probably damaging	Het
Pomgnt1	T	G	4: 116,010,740 (GRCm39)		probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rad1	T	C	15: 10,488,112 (GRCm39)	S79P	probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rcc1	T	C	4: 132,065,125 (GRCm39)	K133E	possibly damaging	Het
Ric8a	T	C	7: 140,441,874 (GRCm39)		probably null	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rps6ka4	A	G	19: 6,816,645 (GRCm39)	V146A	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,050 (GRCm39)	I633V	possibly damaging	Het
Slc2a2	T	A	3: 28,781,301 (GRCm39)	N446K	probably damaging	Het
Slc44a1	T	C	4: 53,491,445 (GRCm39)	Y61H	probably damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Smc5	T	C	19: 23,187,856 (GRCm39)	M911V	probably benign	Het
Sntb1	C	A	15: 55,506,214 (GRCm39)	R453L	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Srrm2	CTCCTCTTCTTCCTCTTCTTCCTC	CTCCTCTTCTTCCTC	17: 24,041,549 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,867,475 (GRCm39)		probably benign	Het
Tufm	T	C	7: 126,089,632 (GRCm39)	M442T	probably benign	Het
Ubn1	A	G	16: 4,891,242 (GRCm39)	N539S	possibly damaging	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
R2196:Acvr2a	UTSW	2	48,760,324 (GRCm39)	missense	possibly damaging	0.94
R2876:Acvr2a	UTSW	2	48,782,190 (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'- GTGTTGCCGTTTACGATACAG -3'
(R):5'- GCCAAGTCCAGCTTAACTAAACTTAAG -3'

Sequencing Primer
(F):5'- GCCGTTTACGATACAGAAATGCAGTC -3'
(R):5'- TTAGCCACAGGTCCACAT -3'

Posted On

2015-01-23