Mutagenetix > Incidental Mutation

Incidental Mutation 'R6892:Acvr2a'

538090

Institutional Source

Beutler Lab

Gene Symbol

Acvr2a

Ensembl Gene

ENSMUSG00000052155

Gene Name

activin receptor IIA

Synonyms

Acvr2, ActRIIa, tActRII

MMRRC Submission

044986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48704121-48793276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48787087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 394 (L394Q)

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: L394Q

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

SMART Domains

Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: L394Q

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

96% (54/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	C	A	10: 81,018,978 (GRCm39)		probably benign	Het
4933421I07Rik	T	C	7: 42,095,831 (GRCm39)	Q139R	probably benign	Het
A930002H24Rik	C	T	17: 64,170,759 (GRCm39)	V10M	unknown	Het
Ano6	T	C	15: 95,865,505 (GRCm39)	Y830H	probably damaging	Het
Atp8b4	T	A	2: 126,184,922 (GRCm39)	I914F	possibly damaging	Het
Bltp3b	G	A	10: 89,640,985 (GRCm39)	V719I	probably benign	Het
Cab39	A	G	1: 85,776,098 (GRCm39)	D265G	probably damaging	Het
Capn5	A	T	7: 97,785,148 (GRCm39)	W109R	probably damaging	Het
Cdk18	G	T	1: 132,049,848 (GRCm39)	T44K	probably benign	Het
Cdt1	T	A	8: 123,296,951 (GRCm39)	N248K	probably damaging	Het
Cpa4	G	T	6: 30,583,628 (GRCm39)	R248L	probably benign	Het
Cpt1a	G	A	19: 3,421,660 (GRCm39)	V481M	probably benign	Het
Cyp3a11	G	A	5: 145,797,258 (GRCm39)	L374F	probably damaging	Het
Dcdc2a	A	G	13: 25,240,443 (GRCm39)	N64D	probably damaging	Het
Dmxl1	G	A	18: 50,053,969 (GRCm39)	R2525Q	probably damaging	Het
Dscaml1	G	A	9: 45,595,128 (GRCm39)	V744M	probably damaging	Het
Dync1h1	G	A	12: 110,605,335 (GRCm39)	E2391K	probably benign	Het
Ezh1	A	T	11: 101,090,187 (GRCm39)	Y522*	probably null	Het
Fzd3	G	C	14: 65,447,330 (GRCm39)	A533G	possibly damaging	Het
Gm14403	T	G	2: 177,201,040 (GRCm39)	C329G	probably damaging	Het
Gm17067	A	C	7: 42,360,099 (GRCm39)		probably null	Het
Gm38119	A	G	3: 92,645,529 (GRCm39)	C22R	unknown	Het
Grep1	A	G	17: 23,931,328 (GRCm39)	L193P	probably damaging	Het
Gtf3c3	A	G	1: 54,455,100 (GRCm39)	S588P	probably benign	Het
Ift140	A	G	17: 25,239,520 (GRCm39)	E59G	possibly damaging	Het
Ints1	A	T	5: 139,753,583 (GRCm39)	M683K	probably damaging	Het
Iws1	A	G	18: 32,219,327 (GRCm39)	M470V	probably damaging	Het
Mptx1	A	G	1: 174,159,831 (GRCm39)	R46G	probably benign	Het
Nhsl1	C	T	10: 18,400,091 (GRCm39)	T439I	probably damaging	Het
Or10a49	A	G	7: 108,467,722 (GRCm39)	L213P	probably damaging	Het
Peg3	C	T	7: 6,711,898 (GRCm39)	S1108N	possibly damaging	Het
Pgm1	A	G	4: 99,786,905 (GRCm39)	E48G	probably benign	Het
Pkhd1	G	A	1: 20,593,739 (GRCm39)	T1458I	probably damaging	Het
Polr1a	A	T	6: 71,941,696 (GRCm39)	D1068V	possibly damaging	Het
Ptprq	T	C	10: 107,411,865 (GRCm39)	T1834A	probably benign	Het
Rapgef1	T	C	2: 29,589,852 (GRCm39)		probably null	Het
Rgl1	A	T	1: 152,415,691 (GRCm39)	D409E	probably benign	Het
Rgsl1	G	T	1: 153,697,245 (GRCm39)	Y558*	probably null	Het
Rock1	C	T	18: 10,122,612 (GRCm39)	R403H	probably benign	Het
Scn11a	T	A	9: 119,636,035 (GRCm39)	D304V	possibly damaging	Het
Sdk1	A	T	5: 142,032,053 (GRCm39)	I1043F	probably benign	Het
Sgms2	A	G	3: 131,135,803 (GRCm39)	Y24H	probably benign	Het
Sppl2a	A	G	2: 126,755,495 (GRCm39)	I372T	probably damaging	Het
Sptbn1	A	G	11: 30,092,187 (GRCm39)	M526T	probably benign	Het
Stxbp5l	A	T	16: 37,008,991 (GRCm39)	S683T	possibly damaging	Het
Syk	A	T	13: 52,786,934 (GRCm39)	R332S	probably benign	Het
Syne2	T	A	12: 76,009,302 (GRCm39)	V2401E	probably damaging	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tbc1d22b	A	G	17: 29,814,864 (GRCm39)	K378E	possibly damaging	Het
Tcte1	A	G	17: 45,844,083 (GRCm39)	T20A	probably benign	Het
Tor1aip2	A	T	1: 155,940,927 (GRCm39)	Y411F	possibly damaging	Het
Trim43c	T	A	9: 88,726,977 (GRCm39)	M267K	probably benign	Het
Ubr2	T	G	17: 47,245,034 (GRCm39)	Y1664S	probably damaging	Het
Vmn1r41	C	A	6: 89,724,163 (GRCm39)	Q235K	possibly damaging	Het
Wdr17	T	C	8: 55,126,631 (GRCm39)	T401A	probably damaging	Het
Zfp454	A	G	11: 50,764,025 (GRCm39)	L469P	probably 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
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
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'- CAGCAAAGCATTACTTGGTACTTTG -3'
(R):5'- AAGTTCACCTTGCTGTCTGC -3'

Sequencing Primer
(F):5'- TCGTGAGAGTATCCAGAAGTCATCTG -3'
(R):5'- GCATCTTCTGCCACCTTGTG -3'

Posted On

2018-11-06