Mutagenetix > Incidental Mutation

Incidental Mutation 'R9041:Acvr2b'

723575

Institutional Source

Beutler Lab

Gene Symbol

Acvr2b

Ensembl Gene

ENSMUSG00000061393

Gene Name

activin receptor IIB

Synonyms

ActRIIB

MMRRC Submission

068868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9041 (G1)

Quality Score

78.0075

Status

Validated

Chromosome

Chromosomal Location

119231184-119264061 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 119257052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 94 (E94*)

Ref Sequence

ENSEMBL: ENSMUSP00000150566 (fasta)

Gene Model

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

AlphaFold

P27040

Predicted Effect

probably null
Transcript: ENSMUST00000035093
AA Change: E94*

SMART Domains

Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: E94*

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 null
Transcript: ENSMUST00000165044
AA Change: E94*

SMART Domains

Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: E94*

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

probably null
Transcript: ENSMUST00000215746
AA Change: E94*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,054 (GRCm39)	I168T	probably benign	Het
Adcy8	A	T	15: 64,609,287 (GRCm39)	I874N	probably benign	Het
Ahcyl	T	G	16: 45,974,468 (GRCm39)	D303A	possibly damaging	Het
Angptl1	G	T	1: 156,685,999 (GRCm39)	D362Y	probably damaging	Het
Arc	A	G	15: 74,543,896 (GRCm39)	V109A	probably damaging	Het
Asphd2	T	A	5: 112,539,768 (GRCm39)	T22S	probably benign	Het
Caprin2	A	T	6: 148,771,030 (GRCm39)	N321K	probably benign	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Cd38	G	A	5: 44,058,899 (GRCm39)		probably null	Het
Cd3g	A	G	9: 44,884,818 (GRCm39)	V142A	possibly damaging	Het
Chrna6	A	T	8: 27,896,923 (GRCm39)	I318N	probably damaging	Het
Cmah	T	C	13: 24,641,004 (GRCm39)		probably null	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cplx4	T	C	18: 66,103,097 (GRCm39)	M8V	probably damaging	Het
Dnajc19	T	C	3: 34,134,282 (GRCm39)	K27R	probably damaging	Het
E2f3	C	A	13: 30,093,939 (GRCm39)	D441Y	probably damaging	Het
Erap1	A	G	13: 74,822,818 (GRCm39)	K777R	probably benign	Het
Fastkd1	C	T	2: 69,532,715 (GRCm39)	V551I	probably benign	Het
Fgd5	A	G	6: 91,964,427 (GRCm39)	E220G	probably benign	Het
Gal3st2	T	C	1: 93,800,206 (GRCm39)	V19A	possibly damaging	Het
Ghr	T	C	15: 3,357,530 (GRCm39)	E246G	probably benign	Het
Gm10228	A	T	16: 88,838,113 (GRCm39)	Y64N	unknown	Het
Gsdmc4	T	C	15: 63,774,586 (GRCm39)	N65S	probably benign	Het
Heatr5b	C	A	17: 79,103,861 (GRCm39)	A1105S	probably benign	Het
Hipk2	A	T	6: 38,724,909 (GRCm39)	L376*	probably null	Het
Il6st	A	G	13: 112,611,631 (GRCm39)	T18A	probably benign	Het
Kif3b	T	C	2: 153,159,468 (GRCm39)	I423T	probably benign	Het
Klf17	T	C	4: 117,617,556 (GRCm39)	Y267C	probably damaging	Het
Kntc1	A	G	5: 123,927,093 (GRCm39)	T1183A	probably benign	Het
Lrrc71	A	G	3: 87,650,660 (GRCm39)	S201P	probably damaging	Het
Mrgprb5	A	T	7: 47,818,509 (GRCm39)	D75E	probably damaging	Het
Myef2l	T	C	3: 10,157,353 (GRCm39)	*499Q	probably null	Het
Myf6	A	G	10: 107,329,225 (GRCm39)	V240A	probably benign	Het
Ncoa6	T	C	2: 155,257,450 (GRCm39)	M698V	possibly damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nynrin	T	C	14: 56,108,753 (GRCm39)	S1287P	possibly damaging	Het
Or10ab5	A	G	7: 108,245,589 (GRCm39)	S65P	probably damaging	Het
Otud4	T	A	8: 80,400,441 (GRCm39)	S1052T	probably damaging	Het
Pcsk5	A	T	19: 17,538,132 (GRCm39)	C898*	probably null	Het
Pdcd1	T	C	1: 93,969,091 (GRCm39)	T76A	probably benign	Het
Plin2	T	A	4: 86,578,504 (GRCm39)	M198L	probably benign	Het
Prmt7	T	A	8: 106,963,460 (GRCm39)	V180D	possibly damaging	Het
R3hdm2	T	C	10: 127,320,405 (GRCm39)	Y549H	probably damaging	Het
Rad54l2	A	G	9: 106,600,018 (GRCm39)	S80P	possibly damaging	Het
Ryr3	T	A	2: 112,787,546 (GRCm39)	E235D	probably damaging	Het
Scart1	T	C	7: 139,808,503 (GRCm39)	C805R	probably damaging	Het
Serpina9	A	T	12: 103,967,737 (GRCm39)	S219R		Het
Sesn2	G	A	4: 132,225,272 (GRCm39)	T298I	probably benign	Het
Sf3b2	A	T	19: 5,324,872 (GRCm39)	V838E	possibly damaging	Het
Sfpq	C	A	4: 126,915,296 (GRCm39)	H29Q	unknown	Het
Smchd1	A	G	17: 71,701,710 (GRCm39)		probably null	Het
Sprr1b	A	G	3: 92,344,477 (GRCm39)	V133A	probably benign	Het
Srgap3	T	C	6: 112,754,054 (GRCm39)	Y243C	probably damaging	Het
Thop1	C	T	10: 80,917,228 (GRCm39)	A577V	possibly damaging	Het
Tmprss3	T	A	17: 31,410,014 (GRCm39)	D200V	probably benign	Het
Treh	A	T	9: 44,596,677 (GRCm39)	K512M	probably damaging	Het
Trip11	A	G	12: 101,845,127 (GRCm39)	V1537A	probably benign	Het
Trp63	A	G	16: 25,582,083 (GRCm39)	T44A	probably benign	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn2r90	A	C	17: 17,954,286 (GRCm39)	M817L	probably benign	Het
Zfp68	A	T	5: 138,604,699 (GRCm39)	Y541*	probably null	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
R5278:Acvr2b	UTSW	9	119,261,555 (GRCm39)	missense	probably damaging	0.99
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
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'- AATCCCAAGCCCCTGTTCTG -3'
(R):5'- TACATCCAGAAGGCCAGCAG -3'

Sequencing Primer
(F):5'- TCTCCTCAGCTCAGGCAG -3'
(R):5'- ACACATGGAGCCCTGTGTCAC -3'

Posted On

2022-08-29