Mutagenetix > Incidental Mutation

Incidental Mutation 'R7096:Acvr2b'

568615

Institutional Source

Beutler Lab

Gene Symbol

Acvr2b

Ensembl Gene

ENSMUSG00000061393

Gene Name

activin receptor IIB

Synonyms

ActRIIB

MMRRC Submission

045188-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119231184-119264061 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 119257255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150566 (fasta)

Gene Model

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

AlphaFold

P27040

Predicted Effect

probably benign
Transcript: ENSMUST00000035093

SMART Domains

Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393

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

SMART Domains

Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,888,305 (GRCm39)	M383R	probably damaging	Het
Acd	T	A	8: 106,425,121 (GRCm39)	E366V	possibly damaging	Het
Alg10b	C	T	15: 90,111,564 (GRCm39)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,241,040 (GRCm39)	K440*	probably null	Het
Apc	T	A	18: 34,449,010 (GRCm39)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,019,897 (GRCm39)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,130,867 (GRCm39)	A83V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,799,726 (GRCm39)	I300L	probably benign	Het
Brd1	C	A	15: 88,598,138 (GRCm39)	R536L	probably damaging	Het
Brms1	T	A	19: 5,096,708 (GRCm39)	I130N	probably damaging	Het
Ccdc68	A	G	18: 70,073,241 (GRCm39)	H63R	probably damaging	Het
Ccl28	A	G	13: 120,112,429 (GRCm39)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,878,321 (GRCm39)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,181,043 (GRCm39)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,518,555 (GRCm39)	R133Q	probably benign	Het
Coq2	A	G	5: 100,811,586 (GRCm39)		probably benign	Het
Coq6	T	C	12: 84,408,595 (GRCm39)		probably null	Het
Csmd2	C	T	4: 128,356,519 (GRCm39)	S1608L		Het
Cyp11b2	T	A	15: 74,727,837 (GRCm39)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,289,462 (GRCm39)	T217A	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,522,599 (GRCm39)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,623,512 (GRCm39)	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,848,478 (GRCm39)	E183V	probably damaging	Het
Elovl6	A	G	3: 129,398,755 (GRCm39)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,477,190 (GRCm39)	A455S	probably benign	Het
Gpat2	A	G	2: 127,270,209 (GRCm39)	N74S	probably benign	Het
Gstk1	C	A	6: 42,226,407 (GRCm39)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,295,731 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,705,339 (GRCm39)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,845,473 (GRCm39)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 120,293,064 (GRCm39)	A124S	possibly damaging	Het
Il11	T	C	7: 4,778,995 (GRCm39)	Y45C	probably damaging	Het
Lcat	C	T	8: 106,666,309 (GRCm39)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,447,099 (GRCm39)	F72L	probably benign	Het
Map10	T	C	8: 126,398,662 (GRCm39)	L685P	probably damaging	Het
Me2	A	G	18: 73,927,961 (GRCm39)	V174A	probably benign	Het
Med13l	C	A	5: 118,859,991 (GRCm39)	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,925,139 (GRCm39)	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,941,769 (GRCm39)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,782,324 (GRCm39)		probably null	Het
Myof	C	A	19: 37,924,648 (GRCm39)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,716,516 (GRCm39)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,480,463 (GRCm39)	M34L	probably benign	Het
Or5p61	C	A	7: 107,758,848 (GRCm39)	M77I	probably benign	Het
Or6c38	T	C	10: 128,929,715 (GRCm39)	I43V	probably damaging	Het
Padi3	T	C	4: 140,527,435 (GRCm39)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,722,643 (GRCm39)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,295,384 (GRCm39)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,267,324 (GRCm39)	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,648,112 (GRCm39)	K156*	probably null	Het
Pkmyt1	T	A	17: 23,953,087 (GRCm39)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,104,867 (GRCm39)	R597Q	probably benign	Het
Poteg	C	A	8: 27,963,595 (GRCm39)	A344E	probably benign	Het
Rad21l	A	G	2: 151,509,840 (GRCm39)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,283,057 (GRCm39)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,851,333 (GRCm39)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,080,051 (GRCm39)	V114A	probably benign	Het
Skic2	T	A	17: 35,060,446 (GRCm39)	H849L	probably benign	Het
Snai2	A	G	16: 14,525,028 (GRCm39)	H178R	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,796,809 (GRCm39)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,187,014 (GRCm39)	D625E		Het
Tlr6	A	G	5: 65,111,119 (GRCm39)	V596A	probably benign	Het
Trak2	T	G	1: 58,942,749 (GRCm39)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,879,695 (GRCm39)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,219,196 (GRCm39)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,682,762 (GRCm39)	L814S	probably damaging	Het
Zbbx	T	C	3: 74,989,044 (GRCm39)	D353G	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
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
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'- TACTTCTGCTGCTGCGAAG -3'
(R):5'- ATCTCCAGCAGCTGTAGTGG -3'

Sequencing Primer
(F):5'- GAAGGCAACTTCTGCAAC -3'
(R):5'- CAGCAGCTGTAGTGGCTTCAG -3'

Posted On

2019-08-30