Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Acvr2b'

228099

Institutional Source

Beutler Lab

Gene Symbol

Acvr2b

Ensembl Gene

ENSMUSG00000061393

Gene Name

activin receptor IIB

Synonyms

ActRIIB

MMRRC Submission

040134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119231184-119264061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119261874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 437 (R437G)

Ref Sequence

ENSEMBL: ENSMUSP00000150566 (fasta)

Gene Model

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

AlphaFold

P27040

Predicted Effect

probably damaging
Transcript: ENSMUST00000035093
AA Change: R453G

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

SMART Domains

Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: R453G

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: R461G

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

SMART Domains

Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: R461G

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

probably damaging
Transcript: ENSMUST00000215746
AA Change: R437G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217621

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Adamtsl3	C	A	7: 82,227,802 (GRCm39)	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Ampd1	G	T	3: 103,002,194 (GRCm39)		probably null	Het
Ankrd16	T	A	2: 11,788,506 (GRCm39)	D211E	probably damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apc	C	A	18: 34,445,098 (GRCm39)	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,835,301 (GRCm39)	N747S	probably damaging	Het
Arsk	A	T	13: 76,239,931 (GRCm39)	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726 (GRCm39)	F1001I	probably benign	Het
Bap1	T	A	14: 30,980,288 (GRCm39)	Y645*	probably null	Het
Brca2	A	G	5: 150,480,594 (GRCm39)	Y2760C	probably damaging	Het
Cad	T	A	5: 31,215,416 (GRCm39)	F76I	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Cdkn2c	A	C	4: 109,522,260 (GRCm39)	N28K	probably null	Het
Celsr1	T	A	15: 85,847,424 (GRCm39)	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Cldn1	G	C	16: 26,190,300 (GRCm39)	A26G	probably damaging	Het
Col20a1	T	A	2: 180,634,366 (GRCm39)	F110L	probably damaging	Het
Creg2	T	C	1: 39,664,146 (GRCm39)	N204S	probably benign	Het
Cx3cl1	C	A	8: 95,506,201 (GRCm39)	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,176,958 (GRCm39)	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,520,135 (GRCm39)	I456F	probably damaging	Het
Dapk1	T	A	13: 60,909,481 (GRCm39)	W1365R	possibly damaging	Het
Dapk1	A	G	13: 60,877,345 (GRCm39)	E528G	possibly damaging	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Depdc5	T	A	5: 33,148,125 (GRCm39)	L1469*	probably null	Het
Dnah3	T	A	7: 119,566,982 (GRCm39)	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,842,750 (GRCm39)	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Eya1	A	G	1: 14,241,198 (GRCm39)	V573A	probably benign	Het
Fam171b	T	A	2: 83,710,202 (GRCm39)	S625T	probably damaging	Het
Fam186a	T	C	15: 99,831,557 (GRCm39)		probably benign	Het
Gabra4	G	T	5: 71,798,567 (GRCm39)	D137E	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gm43302	T	C	5: 105,422,610 (GRCm39)	D474G	probably damaging	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Gpr19	T	C	6: 134,847,405 (GRCm39)	M1V	probably null	Het
Hnf4a	T	A	2: 163,389,338 (GRCm39)	N29K	probably benign	Het
Htt	A	G	5: 35,034,453 (GRCm39)	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Il4i1	G	A	7: 44,489,494 (GRCm39)	V420M	probably damaging	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jmjd4	A	T	11: 59,345,781 (GRCm39)	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,314,256 (GRCm39)	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483 (GRCm39)	L1228P	probably benign	Het
Klra3	A	G	6: 130,312,738 (GRCm39)	S9P	probably benign	Het
Ldhd	C	T	8: 112,355,169 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmo7	A	T	14: 102,137,674 (GRCm39)	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,672,708 (GRCm39)	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,599,781 (GRCm39)	F453I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcpt8	T	C	14: 56,319,740 (GRCm39)	I237V	probably damaging	Het
Med4	A	G	14: 73,755,436 (GRCm39)	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,884 (GRCm39)	L269F	probably damaging	Het
Mib2	C	T	4: 155,739,695 (GRCm39)		probably null	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mnx1	T	A	5: 29,679,187 (GRCm39)	S299C	unknown	Het
Nbr1	T	A	11: 101,457,017 (GRCm39)		probably null	Het
Ncapd3	T	G	9: 26,994,642 (GRCm39)	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,731,943 (GRCm39)		probably null	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Oosp1	T	C	19: 11,668,314 (GRCm39)	D23G	probably damaging	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or6c205	T	C	10: 129,086,943 (GRCm39)	F180S	probably benign	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Otog	A	T	7: 45,899,524 (GRCm39)	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,580,923 (GRCm39)	Q10K	probably benign	Het
Pcx	T	C	19: 4,652,579 (GRCm39)	F189L	probably benign	Het
Pde6b	A	G	5: 108,576,069 (GRCm39)	D718G	probably damaging	Het
Pklr	C	A	3: 89,049,967 (GRCm39)	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Plekho1	A	G	3: 95,896,429 (GRCm39)	S347P	probably damaging	Het
Plxna2	G	A	1: 194,327,058 (GRCm39)	D331N	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Prkra	A	T	2: 76,477,480 (GRCm39)	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,310,089 (GRCm39)	A31V	probably damaging	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,937,430 (GRCm39)	C947*	probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Sarm1	A	T	11: 78,366,133 (GRCm39)	C649S	probably benign	Het
Septin12	T	A	16: 4,809,643 (GRCm39)	Q223L	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,870,559 (GRCm39)	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246 (GRCm39)		probably null	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Spag6	T	A	2: 18,737,908 (GRCm39)	C259*	probably null	Het
Spata31e2	T	C	1: 26,724,935 (GRCm39)	R82G	probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Stk24	A	T	14: 121,539,623 (GRCm39)	I191N	probably damaging	Het
Tacc1	A	T	8: 25,654,509 (GRCm39)	N271K	probably damaging	Het
Tacc2	T	A	7: 130,223,587 (GRCm39)	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tbccd1	A	G	16: 22,660,739 (GRCm39)	S26P	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 155,941,095 (GRCm39)	Y467C	probably damaging	Het
Ttc9b	T	A	7: 27,353,774 (GRCm39)		probably null	Het
Tti1	T	C	2: 157,842,663 (GRCm39)	R789G	probably benign	Het
Ttn	A	T	2: 76,662,561 (GRCm39)		probably null	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube3d	A	T	9: 86,254,540 (GRCm39)		probably null	Het
Vav2	C	A	2: 27,189,408 (GRCm39)	R176L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr27	T	A	17: 15,148,594 (GRCm39)	D133V	probably damaging	Het
Zc3h7a	A	T	16: 10,968,469 (GRCm39)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,474,392 (GRCm39)	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,419,595 (GRCm39)	S38A	probably damaging	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
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
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'- TGCGTATCGACATGTACGCC -3'
(R):5'- TTGAGCTACAACAGGTTCAAGAAAG -3'

Sequencing Primer
(F):5'- AGCTCGTCTCTCGGTGCAAG -3'
(R):5'- AAGAGGTCAGGGCCTACC -3'

Posted On

2014-09-17