Mutagenetix > Incidental Mutation

Incidental Mutation 'R5347:Acvr2a'

422653

Institutional Source

Beutler Lab

Gene Symbol

Acvr2a

Ensembl Gene

ENSMUSG00000052155

Gene Name

activin receptor IIA

Synonyms

Acvr2, ActRIIa, tActRII

MMRRC Submission

042926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48704121-48793276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48782166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 233 (Y233C)

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: Y233C

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

SMART Domains

Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: Y233C

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,584,814 (GRCm39)	S169P	probably damaging	Het
Arid1b	C	T	17: 5,341,332 (GRCm39)	Q879*	probably null	Het
Bbs2	A	G	8: 94,819,178 (GRCm39)	S64P	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Cacna2d2	A	G	9: 107,391,313 (GRCm39)	T447A	probably benign	Het
Ccdc168	T	A	1: 44,096,955 (GRCm39)	Y1381F	probably benign	Het
Ccdc169	A	T	3: 55,049,740 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,546 (GRCm39)	S275P	possibly damaging	Het
Cdh15	A	G	8: 123,588,802 (GRCm39)	N292S	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnnm1	A	G	19: 43,430,301 (GRCm39)	H473R	probably benign	Het
Cplx4	G	A	18: 66,103,157 (GRCm39)		probably benign	Het
Crb1	C	T	1: 139,265,109 (GRCm39)	G103E	probably damaging	Het
Dnaja3	T	A	16: 4,512,346 (GRCm39)	V250E	possibly damaging	Het
Dync2h1	T	G	9: 7,129,727 (GRCm39)	Q1757P	probably damaging	Het
Edem3	A	G	1: 151,683,202 (GRCm39)	Q626R	probably damaging	Het
Eif2b1	T	C	5: 124,716,862 (GRCm39)		probably benign	Het
Esf1	T	A	2: 139,996,801 (GRCm39)	K521*	probably null	Het
Fbxl3	A	C	14: 103,320,730 (GRCm39)	V239G	probably damaging	Het
Fhip2a	A	G	19: 57,367,051 (GRCm39)	D198G	probably benign	Het
Fto	A	G	8: 92,118,107 (GRCm39)		probably benign	Het
Gm5773	T	C	3: 93,681,090 (GRCm39)	L254P	probably damaging	Het
Gm5916	A	T	9: 36,032,012 (GRCm39)	W91R	probably benign	Het
Gpam	A	T	19: 55,077,269 (GRCm39)	L174H	probably damaging	Het
Grk1	G	A	8: 13,464,478 (GRCm39)	R450Q	probably damaging	Het
Hc	G	A	2: 34,927,636 (GRCm39)	A326V	probably benign	Het
Hectd4	T	C	5: 121,442,511 (GRCm39)	I1317T	probably benign	Het
Hlcs	A	G	16: 94,068,383 (GRCm39)	V426A	possibly damaging	Het
Ighv1-23	T	C	12: 114,728,376 (GRCm39)		probably benign	Het
Itgax	G	A	7: 127,740,474 (GRCm39)	V754I	probably benign	Het
Krt24	T	A	11: 99,173,556 (GRCm39)	D255V	probably damaging	Het
Lnpk	T	C	2: 74,403,935 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,454,237 (GRCm39)	R478L	probably damaging	Het
Lrrc56	A	G	7: 140,789,537 (GRCm39)	Q518R	probably benign	Het
Mbl1	A	T	14: 40,880,786 (GRCm39)	I225F	probably damaging	Het
Mmp21	T	C	7: 133,277,651 (GRCm39)	S392G	probably benign	Het
Mug2	T	G	6: 122,058,551 (GRCm39)	F1318V	probably damaging	Het
Myo5c	A	G	9: 75,202,487 (GRCm39)	N1447S	probably null	Het
Nbea	A	C	3: 55,948,297 (GRCm39)	V543G	probably damaging	Het
Necap1	A	G	6: 122,857,706 (GRCm39)	I96V	probably benign	Het
Nr3c2	T	A	8: 77,937,377 (GRCm39)	M872K	possibly damaging	Het
Nrf1	C	T	6: 30,118,967 (GRCm39)	T362M	probably benign	Het
Or14j2	T	C	17: 37,885,618 (GRCm39)	E232G	probably damaging	Het
Pcare	A	G	17: 72,056,930 (GRCm39)	S916P	probably benign	Het
Plekhm3	T	C	1: 64,859,149 (GRCm39)	E685G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sbk3	A	T	7: 4,970,422 (GRCm39)	S316T	probably benign	Het
Serpinb9e	T	C	13: 33,441,767 (GRCm39)	L233P	probably damaging	Het
Set	T	A	2: 29,959,422 (GRCm39)	S132T	possibly damaging	Het
Slc17a4	C	T	13: 24,092,800 (GRCm39)	E11K	possibly damaging	Het
Slc22a6	T	A	19: 8,595,917 (GRCm39)	N86K	possibly damaging	Het
Slco1a6	A	G	6: 142,032,325 (GRCm39)	L600P	probably damaging	Het
Sp8	A	G	12: 118,812,246 (GRCm39)	K34E	possibly damaging	Het
Spen	T	A	4: 141,198,796 (GRCm39)	E3254V	probably benign	Het
Tcf12	G	A	9: 71,792,525 (GRCm39)	P53S	probably damaging	Het
Tcf3	A	G	10: 80,246,045 (GRCm39)	V626A	probably damaging	Het
Trpc4ap	A	G	2: 155,514,908 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,230,479 (GRCm39)	V892D	probably damaging	Het
Tub	G	T	7: 108,625,978 (GRCm39)	R243L	possibly damaging	Het
Tubgcp5	A	G	7: 55,473,433 (GRCm39)	Y837C	probably damaging	Het
Utp25	A	T	1: 192,810,687 (GRCm39)	D105E	probably benign	Het
Wdhd1	A	T	14: 47,506,181 (GRCm39)	Y244*	probably null	Het
Xdh	T	A	17: 74,232,027 (GRCm39)	T228S	probably benign	Het
Zfp418	A	C	7: 7,185,534 (GRCm39)	Q499P	probably benign	Het
Zfpm1	G	A	8: 123,062,269 (GRCm39)	E443K	possibly damaging	Het
Zfy1	T	C	Y: 725,950 (GRCm39)	H605R	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
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
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'- CCGTTTACGATACAGAAATGCAGTC -3'
(R):5'- GTTAACATTAGATAAGCCAAGTCCAGC -3'

Sequencing Primer
(F):5'- AATGCAGTCATTTTTGGTGAATGTC -3'
(R):5'- CCAAGTCCAGCTTAACTAAACTTAAG -3'

Posted On

2016-08-04