Mutagenetix > Incidental Mutation

Incidental Mutation 'R5278:Acvr2b'

472485

Institutional Source

Beutler Lab

Gene Symbol

Acvr2b

Ensembl Gene

ENSMUSG00000061393

Gene Name

activin receptor IIB

Synonyms

ActRIIB

MMRRC Submission

042865-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5278 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119231184-119264061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119261555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 383 (V383I)

Ref Sequence

ENSEMBL: ENSMUSP00000126108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035093] [ENSMUST00000165044] [ENSMUST00000215746]

AlphaFold

P27040

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035093
AA Change: V375I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: V375I

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	27	117	5.4e-13	PFAM
transmembrane domain	130	152	N/A	INTRINSIC
Pfam:Pkinase	206	494	1.5e-55	PFAM
Pfam:Pkinase_Tyr	206	494	2.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165044
AA Change: V383I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: V383I

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	27	117	5.3e-14	PFAM
transmembrane domain	138	160	N/A	INTRINSIC
Pfam:Pkinase_Tyr	214	502	1.7e-26	PFAM
Pfam:Pkinase	217	501	1e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213431

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215746
AA Change: V359I

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217621

Meta Mutation Damage Score

0.2833

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	C	T	5: 35,745,500 (GRCm39)		probably benign	Het
Akap12	T	C	10: 4,304,792 (GRCm39)	M534T	probably benign	Het
Akp3	G	A	1: 87,052,888 (GRCm39)	E26K	probably benign	Het
Alcam	A	G	16: 52,094,638 (GRCm39)	I371T	probably benign	Het
Ap2a1	T	C	7: 44,552,203 (GRCm39)	T794A	probably benign	Het
Apeh	G	A	9: 107,968,457 (GRCm39)	P349S	probably benign	Het
Asb7	G	T	7: 66,328,933 (GRCm39)	Q36K	possibly damaging	Het
Asl	A	G	5: 130,047,672 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,728,129 (GRCm39)	I574N	probably damaging	Het
Bcl2l2	T	A	14: 55,122,251 (GRCm39)	I138N	probably damaging	Het
Cacna1d	C	T	14: 30,074,881 (GRCm39)		probably null	Het
Ccdc9	C	T	7: 16,012,306 (GRCm39)	W1*	probably null	Het
Cdh18	T	A	15: 23,474,244 (GRCm39)	S705T	probably benign	Het
Ces5a	A	T	8: 94,252,266 (GRCm39)	W209R	probably damaging	Het
Chpf2	T	A	5: 24,793,088 (GRCm39)		probably benign	Het
Cul9	T	A	17: 46,821,799 (GRCm39)	H1892L	probably damaging	Het
Cxcl13	A	G	5: 96,106,586 (GRCm39)	T53A	probably benign	Het
Cyp2s1	T	A	7: 25,505,309 (GRCm39)	Y385F	possibly damaging	Het
Ddx46	A	G	13: 55,823,851 (GRCm39)	E915G	probably damaging	Het
Elovl3	G	A	19: 46,122,540 (GRCm39)	V113I	probably benign	Het
Fam53c	A	T	18: 34,895,671 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,384,752 (GRCm39)	F349L	probably benign	Het
Fuz	C	T	7: 44,545,701 (GRCm39)	P9L	probably benign	Het
Igf1r	C	T	7: 67,843,166 (GRCm39)	T759M	possibly damaging	Het
Impg2	G	A	16: 56,041,880 (GRCm39)	D175N	probably benign	Het
Jade1	G	T	3: 41,543,444 (GRCm39)	R43L	possibly damaging	Het
Kntc1	A	G	5: 123,919,077 (GRCm39)	E816G	probably damaging	Het
Mettl8	A	T	2: 70,803,641 (GRCm39)	D262E	probably damaging	Het
Mrpl48	A	G	7: 100,201,790 (GRCm39)	V156A	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Myh13	A	G	11: 67,225,390 (GRCm39)	I252V	probably benign	Het
Nox4	T	C	7: 87,021,134 (GRCm39)	W449R	probably damaging	Het
Or2a52	T	C	6: 43,144,655 (GRCm39)	L221P	probably damaging	Het
Or2l5	A	T	16: 19,334,128 (GRCm39)	L86*	probably null	Het
Pank4	T	C	4: 155,056,622 (GRCm39)	L351P	probably damaging	Het
Pappa2	A	T	1: 158,609,973 (GRCm39)		probably null	Het
Peg10	CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC	CCATCAGGATGCACATCAGGATCC	6: 4,756,442 (GRCm39)		probably benign	Het
Polr3e	T	A	7: 120,522,184 (GRCm39)	I10K	possibly damaging	Het
Prkdc	T	C	16: 15,532,838 (GRCm39)	I1489T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sh3pxd2b	A	G	11: 32,331,447 (GRCm39)	D57G	probably damaging	Het
Shank2	G	A	7: 143,622,612 (GRCm39)		probably null	Het
Slc15a4	A	T	5: 127,694,033 (GRCm39)	V134E	probably damaging	Het
Slc49a4	A	G	16: 35,518,358 (GRCm39)	S452P	probably damaging	Het
Stxbp5l	G	T	16: 37,007,016 (GRCm39)	Q726K	probably benign	Het
Tesk2	T	G	4: 116,663,133 (GRCm39)		probably benign	Het
Tex2	A	G	11: 106,458,639 (GRCm39)	S264P	probably benign	Het
Tnik	A	G	3: 28,704,209 (GRCm39)	Q1003R	probably damaging	Het
Trip12	C	T	1: 84,739,868 (GRCm39)	R628H	probably damaging	Het
Vmn2r69	G	A	7: 85,060,991 (GRCm39)	H198Y	probably benign	Het

Other mutations in Acvr2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Acvr2b	APN	9	119,261,570 (GRCm39)	missense	probably damaging	1.00
IGL02206:Acvr2b	APN	9	119,257,064 (GRCm39)	nonsense	probably null
IGL03022:Acvr2b	APN	9	119,256,587 (GRCm39)	missense	probably benign	0.10
IGL03131:Acvr2b	APN	9	119,260,350 (GRCm39)	missense	possibly damaging	0.92
R0455:Acvr2b	UTSW	9	119,261,675 (GRCm39)	missense	probably damaging	1.00
R2131:Acvr2b	UTSW	9	119,261,874 (GRCm39)	missense	probably damaging	1.00
R4744:Acvr2b	UTSW	9	119,260,328 (GRCm39)	missense	probably damaging	1.00
R5636:Acvr2b	UTSW	9	119,257,375 (GRCm39)	missense	probably damaging	1.00
R6196:Acvr2b	UTSW	9	119,262,469 (GRCm39)	missense	possibly damaging	0.71
R6253:Acvr2b	UTSW	9	119,257,627 (GRCm39)	missense	probably damaging	1.00
R6424:Acvr2b	UTSW	9	119,231,645 (GRCm39)	missense	probably benign
R6465:Acvr2b	UTSW	9	119,262,369 (GRCm39)	missense	probably damaging	1.00
R7096:Acvr2b	UTSW	9	119,257,255 (GRCm39)	splice site	probably null
R7102:Acvr2b	UTSW	9	119,261,619 (GRCm39)	missense	probably damaging	0.96
R7497:Acvr2b	UTSW	9	119,262,352 (GRCm39)	missense	probably benign
R8557:Acvr2b	UTSW	9	119,261,654 (GRCm39)	missense	probably damaging	0.98
R9041:Acvr2b	UTSW	9	119,257,052 (GRCm39)	nonsense	probably null
R9149:Acvr2b	UTSW	9	119,257,116 (GRCm39)	missense	probably damaging	1.00
R9276:Acvr2b	UTSW	9	119,231,616 (GRCm39)	missense	probably benign	0.23
R9321:Acvr2b	UTSW	9	119,257,351 (GRCm39)	missense	probably benign	0.01
R9340:Acvr2b	UTSW	9	119,257,492 (GRCm39)	missense	probably damaging	0.98
R9531:Acvr2b	UTSW	9	119,260,392 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGGAATCTTCACTCTGCC -3'
(R):5'- CAGCATGTACTCATCGACAGG -3'

Sequencing Primer
(F):5'- TCACTCTGCCTCAAACGGGATG -3'
(R):5'- ATGTACTCATCGACAGGCCCTG -3'

Posted On

2017-04-13