Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Acvr2b'

440379

Institutional Source

Beutler Lab

Gene Symbol

Acvr2b

Ensembl Gene

ENSMUSG00000061393

Gene Name

activin receptor IIB

Synonyms

ActRIIB

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119402118-119434995 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119428309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 152 (Y152C)

Ref Sequence

ENSEMBL: ENSMUSP00000035093 (fasta)

Gene Model

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

AlphaFold

P27040

PDB Structure

Crystal structure of the activin/actrIIb extracellular domain [X-RAY DIFFRACTION]
Crystal structure of a ternary ligand-receptor complex of BMP-2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035093
AA Change: Y152C

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

SMART Domains

Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: Y152C

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 benign
Transcript: ENSMUST00000165044
AA Change: Y160C

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: Y160C

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 benign
Transcript: ENSMUST00000215746
AA Change: Y160C

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217621

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982 (GRCm38)	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536 (GRCm38)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056 (GRCm38)	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025 (GRCm38)	E7K	probably benign	Het
Akap13	A	G	7: 75,704,372 (GRCm38)	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933 (GRCm38)		probably benign	Het
Atp10d	A	G	5: 72,288,219 (GRCm38)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385 (GRCm38)		probably benign	Het
Bms1	C	A	6: 118,388,825 (GRCm38)	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723 (GRCm38)	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442 (GRCm38)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742 (GRCm38)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,438,306 (GRCm38)	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585 (GRCm38)	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481 (GRCm38)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018 (GRCm38)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686 (GRCm38)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058 (GRCm38)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945 (GRCm38)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456 (GRCm38)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301 (GRCm38)	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078 (GRCm38)	D644G	probably benign	Het
Lrrc6	A	T	15: 66,500,816 (GRCm38)		probably null	Het
Mdn1	C	T	4: 32,695,480 (GRCm38)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240 (GRCm38)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470 (GRCm38)	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528 (GRCm38)	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676 (GRCm38)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294 (GRCm38)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399 (GRCm38)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188 (GRCm38)	K755*	probably null	Het
Olfr1501	C	T	19: 13,838,337 (GRCm38)	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051 (GRCm38)	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560 (GRCm38)	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192 (GRCm38)		probably null	Het
Ric3	G	A	7: 109,038,820 (GRCm38)	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629 (GRCm38)	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905 (GRCm38)	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954 (GRCm38)	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594 (GRCm38)	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014 (GRCm38)	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193 (GRCm38)	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193 (GRCm38)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216 (GRCm38)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829 (GRCm38)		probably null	Het
Spag9	C	A	11: 94,069,012 (GRCm38)	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404 (GRCm38)		probably benign	Het
Stam	G	T	2: 14,117,427 (GRCm38)	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224 (GRCm38)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm38)	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909 (GRCm38)	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996 (GRCm38)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429 (GRCm38)	H605R	probably damaging	Het

Other mutations in Acvr2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Acvr2b	APN	9	119,432,504 (GRCm38)	missense	probably damaging	1.00
IGL02206:Acvr2b	APN	9	119,427,998 (GRCm38)	nonsense	probably null
IGL03022:Acvr2b	APN	9	119,427,521 (GRCm38)	missense	probably benign	0.10
IGL03131:Acvr2b	APN	9	119,431,284 (GRCm38)	missense	possibly damaging	0.92
R0455:Acvr2b	UTSW	9	119,432,609 (GRCm38)	missense	probably damaging	1.00
R2131:Acvr2b	UTSW	9	119,432,808 (GRCm38)	missense	probably damaging	1.00
R4744:Acvr2b	UTSW	9	119,431,262 (GRCm38)	missense	probably damaging	1.00
R5278:Acvr2b	UTSW	9	119,432,489 (GRCm38)	missense	probably damaging	0.99
R6196:Acvr2b	UTSW	9	119,433,403 (GRCm38)	missense	possibly damaging	0.71
R6253:Acvr2b	UTSW	9	119,428,561 (GRCm38)	missense	probably damaging	1.00
R6424:Acvr2b	UTSW	9	119,402,579 (GRCm38)	missense	probably benign
R6465:Acvr2b	UTSW	9	119,433,303 (GRCm38)	missense	probably damaging	1.00
R7096:Acvr2b	UTSW	9	119,428,189 (GRCm38)	splice site	probably null
R7102:Acvr2b	UTSW	9	119,432,553 (GRCm38)	missense	probably damaging	0.96
R7497:Acvr2b	UTSW	9	119,433,286 (GRCm38)	missense	probably benign
R8557:Acvr2b	UTSW	9	119,432,588 (GRCm38)	missense	probably damaging	0.98
R9041:Acvr2b	UTSW	9	119,427,986 (GRCm38)	nonsense	probably null
R9149:Acvr2b	UTSW	9	119,428,050 (GRCm38)	missense	probably damaging	1.00
R9276:Acvr2b	UTSW	9	119,402,550 (GRCm38)	missense	probably benign	0.23
R9321:Acvr2b	UTSW	9	119,428,285 (GRCm38)	missense	probably benign	0.01
R9340:Acvr2b	UTSW	9	119,428,426 (GRCm38)	missense	probably damaging	0.98
R9531:Acvr2b	UTSW	9	119,431,326 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTTCTGCTGCTGCGAAG -3'
(R):5'- TGATCTCCAGCAGCTGTAGTG -3'

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

Posted On

2016-11-08