Mutagenetix > Incidental Mutation

Incidental Mutation 'R5151:Acvr1b'

395397

Institutional Source

Beutler Lab

Gene Symbol

Acvr1b

Ensembl Gene

ENSMUSG00000000532

Gene Name

activin A receptor, type 1B

Synonyms

ActRIB, Acvrlk4, SKR2, Alk4, ActR-IB

MMRRC Submission

042733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5151 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

101071953-101111565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101108651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 476 (C476S)

Ref Sequence

ENSEMBL: ENSMUSP00000000544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000544]

AlphaFold

Q61271

Predicted Effect

probably damaging
Transcript: ENSMUST00000000544
AA Change: C476S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000544
Gene: ENSMUSG00000000532
AA Change: C476S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Activin_recp	32	108	4.1e-13	PFAM
transmembrane domain	127	149	N/A	INTRINSIC
GS	177	207	1.89e-14	SMART
Blast:STYKc	209	494	2e-26	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
PHENOTYPE: Embryos homozygous for targeted mutations that inactivate the gene arrest at the egg cylinder stage, prior to gastrulation, showing epiblast and extraembryonic ectoderm disorganization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat2	A	G	2: 26,487,218 (GRCm39)	M120T	probably damaging	Het
Ahnak	A	G	19: 8,994,933 (GRCm39)	T5406A	probably benign	Het
Ano4	A	G	10: 88,948,775 (GRCm39)	F112L	probably damaging	Het
Arhgef11	T	A	3: 87,642,667 (GRCm39)	V1371D	probably damaging	Het
Ascc3	A	G	10: 50,514,059 (GRCm39)	N286S	probably damaging	Het
Ate1	T	C	7: 130,109,394 (GRCm39)	K202E	possibly damaging	Het
Cacna1d	T	C	14: 29,845,280 (GRCm39)	T630A	probably damaging	Het
Ccdc187	G	T	2: 26,183,451 (GRCm39)	T183N	probably damaging	Het
Cdk12	C	T	11: 98,140,749 (GRCm39)		probably benign	Het
Ciita	A	G	16: 10,341,594 (GRCm39)	N978S	probably damaging	Het
Cit	A	T	5: 116,117,894 (GRCm39)	Q1268L	probably damaging	Het
Csf2rb	C	T	15: 78,224,781 (GRCm39)	R180W	probably damaging	Het
Dnah17	T	C	11: 117,918,293 (GRCm39)	I4079V	probably damaging	Het
Dnah7a	A	G	1: 53,659,929 (GRCm39)	V693A	probably benign	Het
Dnah8	T	A	17: 30,931,269 (GRCm39)	V1428E	probably benign	Het
Dnhd1	C	A	7: 105,362,647 (GRCm39)	Q3777K	probably benign	Het
Dock9	A	G	14: 121,815,582 (GRCm39)	Y1666H	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Eftud2	A	G	11: 102,758,670 (GRCm39)		probably null	Het
Erich4	T	C	7: 25,315,292 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,250,259 (GRCm39)	D99V	possibly damaging	Het
Fat1	T	C	8: 45,404,851 (GRCm39)	V534A	possibly damaging	Het
Fgf21	G	C	7: 45,263,456 (GRCm39)	S207R	probably damaging	Het
Fras1	C	T	5: 96,792,969 (GRCm39)	P967S	probably damaging	Het
H2-T23	T	C	17: 36,343,230 (GRCm39)	D49G	probably damaging	Het
Hmcn2	A	G	2: 31,279,455 (GRCm39)	N1819S	probably null	Het
Hoxc12	A	G	15: 102,846,881 (GRCm39)	I258V	probably damaging	Het
Ighv1-22	T	A	12: 114,709,928 (GRCm39)	T106S	probably damaging	Het
Inpp5j	T	C	11: 3,452,270 (GRCm39)	T327A	probably damaging	Het
Iqgap3	G	T	3: 88,025,067 (GRCm39)	M689I	possibly damaging	Het
Itga7	G	A	10: 128,780,380 (GRCm39)	G559S	possibly damaging	Het
Kcnq1	G	T	7: 142,979,749 (GRCm39)	V632L	probably benign	Het
Lsamp	T	C	16: 41,954,792 (GRCm39)	V230A	probably damaging	Het
Mfn2	A	T	4: 147,970,785 (GRCm39)	S305T	probably benign	Het
Myom3	A	G	4: 135,516,883 (GRCm39)	T818A	probably benign	Het
Nacc2	G	A	2: 25,980,365 (GRCm39)	R24C	probably damaging	Het
Ntrk3	A	C	7: 77,897,048 (GRCm39)	I663R	probably damaging	Het
Nyap1	A	G	5: 137,734,376 (GRCm39)	V219A	probably damaging	Het
Obox3	A	T	7: 15,360,173 (GRCm39)	N165K	probably damaging	Het
Or13a1	T	A	6: 116,470,765 (GRCm39)	L65*	probably null	Het
Or13j1	A	T	4: 43,706,518 (GRCm39)	F17I	probably damaging	Het
Or2y12	A	G	11: 49,426,242 (GRCm39)	T77A	possibly damaging	Het
Or52e2	C	A	7: 102,804,593 (GRCm39)	M120I	probably damaging	Het
Or55b4	G	A	7: 102,134,192 (GRCm39)	T45I	probably benign	Het
Pask	A	T	1: 93,262,350 (GRCm39)	L170H	probably damaging	Het
Piezo2	A	T	18: 63,163,480 (GRCm39)	I2146N	possibly damaging	Het
Pitpnm2	A	T	5: 124,274,449 (GRCm39)	M220K	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Pla2g3	C	T	11: 3,440,827 (GRCm39)	T264M	probably benign	Het
Plcb1	A	T	2: 135,104,165 (GRCm39)	Y278F	probably benign	Het
Prkdc	T	C	16: 15,533,899 (GRCm39)	L1579P	probably damaging	Het
Rad51ap2	T	A	12: 11,507,516 (GRCm39)	N479K	probably benign	Het
Rasgrf2	T	C	13: 92,044,155 (GRCm39)	H966R	probably damaging	Het
Rbm27	A	G	18: 42,471,509 (GRCm39)	D996G	probably damaging	Het
Rif1	A	C	2: 52,010,321 (GRCm39)	K2337T	probably damaging	Het
Rpl13a	G	T	7: 44,775,385 (GRCm39)	N442K	probably benign	Het
Serpini2	T	A	3: 75,153,820 (GRCm39)	T380S	possibly damaging	Het
Setbp1	A	T	18: 78,901,214 (GRCm39)	W818R	probably damaging	Het
Siae	T	A	9: 37,542,869 (GRCm39)	C185S	probably benign	Het
Slc15a2	A	G	16: 36,572,659 (GRCm39)	V674A	probably damaging	Het
Slc40a1	A	T	1: 45,950,516 (GRCm39)	M312K	possibly damaging	Het
Slc46a3	A	G	5: 147,823,566 (GRCm39)	L92S	probably damaging	Het
Son	T	C	16: 91,452,587 (GRCm39)	S445P	probably damaging	Het
Syne2	T	C	12: 76,090,484 (GRCm39)	F351L	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tmem248	T	A	5: 130,269,238 (GRCm39)	L277H	probably damaging	Het
Unc13c	T	A	9: 73,838,757 (GRCm39)	H698L	probably benign	Het
Ushbp1	A	G	8: 71,847,799 (GRCm39)	V24A	possibly damaging	Het
Usp24	G	T	4: 106,256,309 (GRCm39)		probably null	Het
Vmn2r50	T	G	7: 9,786,970 (GRCm39)	I46L	probably benign	Het
Zfp106	T	C	2: 120,365,208 (GRCm39)	T423A	probably benign	Het
Zfp663	T	A	2: 165,195,113 (GRCm39)	T369S	probably benign	Het
Zmynd11	T	C	13: 9,740,953 (GRCm39)	T382A	probably damaging	Het

Other mutations in Acvr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02983:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03010:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03011:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03013:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03051:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03127:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03166:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL03265:Acvr1b	APN	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL02980:Acvr1b	UTSW	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
IGL02984:Acvr1b	UTSW	15	101,100,959 (GRCm39)	missense	probably damaging	0.98
R1367:Acvr1b	UTSW	15	101,091,819 (GRCm39)	missense	possibly damaging	0.58
R1498:Acvr1b	UTSW	15	101,091,891 (GRCm39)	missense	probably benign
R1591:Acvr1b	UTSW	15	101,091,905 (GRCm39)	missense	probably benign
R1757:Acvr1b	UTSW	15	101,096,703 (GRCm39)	missense	possibly damaging	0.47
R1793:Acvr1b	UTSW	15	101,091,906 (GRCm39)	missense	probably benign	0.01
R2223:Acvr1b	UTSW	15	101,100,924 (GRCm39)	missense	probably benign	0.10
R2249:Acvr1b	UTSW	15	101,100,975 (GRCm39)	missense	probably null	1.00
R4674:Acvr1b	UTSW	15	101,100,939 (GRCm39)	missense	possibly damaging	0.94
R4676:Acvr1b	UTSW	15	101,100,867 (GRCm39)	missense	probably damaging	1.00
R5223:Acvr1b	UTSW	15	101,091,857 (GRCm39)	missense	probably damaging	1.00
R5397:Acvr1b	UTSW	15	101,096,845 (GRCm39)	missense	probably damaging	0.99
R5574:Acvr1b	UTSW	15	101,099,958 (GRCm39)	missense	probably benign	0.03
R5906:Acvr1b	UTSW	15	101,091,772 (GRCm39)	intron	probably benign
R6025:Acvr1b	UTSW	15	101,092,856 (GRCm39)	missense	probably benign	0.43
R6467:Acvr1b	UTSW	15	101,092,722 (GRCm39)	missense	possibly damaging	0.86
R7158:Acvr1b	UTSW	15	101,091,939 (GRCm39)	missense	probably benign
R8480:Acvr1b	UTSW	15	101,108,720 (GRCm39)	missense	possibly damaging	0.47
R9502:Acvr1b	UTSW	15	101,092,710 (GRCm39)	missense	probably benign
X0067:Acvr1b	UTSW	15	101,091,903 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACCTCTGCCCCTTAAGGAAG -3'
(R):5'- GTGTCTGTCTCAAACCCAACG -3'

Sequencing Primer
(F):5'- CTTAAGGAAGGGAAGGCCTAG -3'
(R):5'- TGTCCCTCTTGCAGGCCAG -3'

Posted On

2016-06-21