Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Acvr2a'

157301

Institutional Source

Beutler Lab

Gene Symbol

Acvr2a

Ensembl Gene

ENSMUSG00000052155

Gene Name

activin receptor IIA

Synonyms

Acvr2, ActRIIa, tActRII

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48704121-48793276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48789628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 457 (T457M)

Ref Sequence

ENSEMBL: ENSMUSP00000067305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028098] [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 benign
Transcript: ENSMUST00000028098

SMART Domains

Protein: ENSMUSP00000028098
Gene: ENSMUSG00000026761

Domain	Start	End	E-Value	Type
AAA	57	199	2.75e-5	SMART
Pfam:ORC4_C	225	413	1.3e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063886
AA Change: T457M

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

SMART Domains

Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: T457M

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

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,379 (GRCm39)	D884V	probably damaging	Het
Akr1b10	C	T	6: 34,369,394 (GRCm39)	T208I	probably benign	Het
Aldh16a1	G	T	7: 44,796,674 (GRCm39)	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Asgr1	T	G	11: 69,946,923 (GRCm39)	C56W	probably benign	Het
Atp11b	T	C	3: 35,860,918 (GRCm39)	I335T	probably damaging	Het
BC061237	A	G	14: 44,741,762 (GRCm39)		probably benign	Het
Bdh1	G	T	16: 31,275,720 (GRCm39)	K280N	probably benign	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,108,172 (GRCm39)	E285G	probably benign	Het
Ces1f	C	T	8: 94,006,277 (GRCm39)	G18R	probably damaging	Het
Cfap43	T	A	19: 47,824,045 (GRCm39)	I109L	possibly damaging	Het
Cma2	T	C	14: 56,210,283 (GRCm39)	L56S	probably damaging	Het
Edc4	A	G	8: 106,617,382 (GRCm39)		probably benign	Het
F3	T	C	3: 121,526,159 (GRCm39)	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,352,310 (GRCm39)	S972C	probably damaging	Het
Heatr1	T	G	13: 12,432,513 (GRCm39)	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,950,738 (GRCm39)		probably benign	Het
Ice1	T	C	13: 70,744,340 (GRCm39)	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,481,873 (GRCm39)	N194D	probably damaging	Het
Ip6k1	G	A	9: 107,923,022 (GRCm39)	V385M	probably damaging	Het
Lig1	G	A	7: 13,022,611 (GRCm39)	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,537,165 (GRCm39)	V41I	probably damaging	Het
Macroh2a2	A	T	10: 61,585,112 (GRCm39)	D177E	possibly damaging	Het
Mst1r	T	A	9: 107,794,424 (GRCm39)	V1201E	probably damaging	Het
Myof	T	C	19: 37,892,116 (GRCm39)		probably benign	Het
Nbas	G	T	12: 13,532,379 (GRCm39)		probably benign	Het
Ndst1	A	G	18: 60,840,719 (GRCm39)	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983 (GRCm38)	G343R	probably damaging	Het
Or2a7	A	T	6: 43,151,234 (GRCm39)	T105S	probably benign	Het
Or2y1	T	A	11: 49,385,650 (GRCm39)	C97S	probably damaging	Het
Or4d2b	A	T	11: 87,780,122 (GRCm39)	I200N	probably damaging	Het
Pde4d	T	C	13: 109,253,595 (GRCm39)	S141P	probably benign	Het
Pigm	A	T	1: 172,204,381 (GRCm39)	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,846,750 (GRCm39)	I88F	probably benign	Het
Prss16	T	A	13: 22,192,856 (GRCm39)		probably benign	Het
Psmc4	G	A	7: 27,742,222 (GRCm39)		probably benign	Het
Ptger3	T	A	3: 157,273,365 (GRCm39)	C237*	probably null	Het
Recql	G	A	6: 142,318,601 (GRCm39)	T214M	probably damaging	Het
Rfx7	T	A	9: 72,526,857 (GRCm39)	V1349D	probably damaging	Het
Ros1	A	G	10: 51,964,041 (GRCm39)	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,947,053 (GRCm39)	S83T	probably benign	Het
Sall4	A	G	2: 168,598,394 (GRCm39)	Y149H	probably benign	Het
Smad1	A	G	8: 80,076,207 (GRCm39)		probably benign	Het
Snrnp70	T	C	7: 45,030,129 (GRCm39)		probably benign	Het
Spef2	C	A	15: 9,725,194 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,505,660 (GRCm39)	T253A	probably benign	Het
Zbbx	T	C	3: 74,959,784 (GRCm39)	Y595C	possibly damaging	Het
Zfp382	T	C	7: 29,833,114 (GRCm39)	V255A	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
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
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'- TCACTCACATGCAGAGGCAGAAAG -3'
(R):5'- TTAGCAGCTCCAGTTCAGAGTCCC -3'

Sequencing Primer
(F):5'- GCTGGCTTGCATAATACACC -3'
(R):5'- AGTTCAGAGTCCCAGTCCTCAG -3'

Posted On

2014-02-18