Mutagenetix > Incidental Mutation

Incidental Mutation 'R6025:Acvr1b'

480000

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

044197-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101071953-101111565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101092856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 166 (D166E)

Ref Sequence

ENSEMBL: ENSMUSP00000000544 (fasta)

Gene Model

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

AlphaFold

Q61271

Predicted Effect

probably benign
Transcript: ENSMUST00000000544
AA Change: D166E

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000544
Gene: ENSMUSG00000000532
AA Change: D166E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199512

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 92.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	GC	G	11: 59,101,139 (GRCm39)		probably null	Het
Adgra2	T	C	8: 27,604,491 (GRCm39)	I522T	probably damaging	Het
Adgre4	C	T	17: 56,099,013 (GRCm39)	S173L	probably benign	Het
Akap9	A	T	5: 4,082,801 (GRCm39)	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,546,298 (GRCm39)	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,465,040 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,807,502 (GRCm39)	N1904S	probably benign	Het
Clstn3	A	T	6: 124,408,623 (GRCm39)	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,755,824 (GRCm39)	D155V	probably damaging	Het
Dct	T	C	14: 118,273,876 (GRCm39)	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,170,673 (GRCm39)		probably null	Het
Dgkz	T	C	2: 91,776,255 (GRCm39)	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,132,332 (GRCm39)	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,189,156 (GRCm39)	V82E	probably damaging	Het
Fcho1	A	T	8: 72,165,217 (GRCm39)		probably null	Het
Garin5b	T	A	7: 4,761,143 (GRCm39)	D523V	probably benign	Het
Ifi213	T	A	1: 173,422,800 (GRCm39)	N22Y	probably damaging	Het
Kcnq1	T	A	7: 142,660,170 (GRCm39)		probably benign	Het
Kif7	T	A	7: 79,354,388 (GRCm39)	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,862,456 (GRCm39)	L206*	probably null	Het
Lonp2	G	T	8: 87,440,001 (GRCm39)	G247V	probably damaging	Het
Ly75	T	C	2: 60,206,306 (GRCm39)	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,408,509 (GRCm39)	T224K	probably benign	Het
Mcm9	T	C	10: 53,492,073 (GRCm39)	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,774,093 (GRCm39)	I322N	probably damaging	Het
Nanog	G	A	6: 122,690,350 (GRCm39)	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347 (GRCm39)	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633 (GRCm38)	L638M	probably benign	Het
Nelfcd	T	C	2: 174,268,611 (GRCm39)	V538A	probably damaging	Het
Or1e33	A	T	11: 73,738,745 (GRCm39)	S69T	probably benign	Het
Or2b4	T	G	17: 38,116,312 (GRCm39)	I92S	probably damaging	Het
Or52a5b	T	C	7: 103,417,416 (GRCm39)	I63V	probably benign	Het
Or5b97	T	A	19: 12,879,034 (GRCm39)	T37S	probably benign	Het
Phf24	G	A	4: 42,938,780 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,528 (GRCm39)	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,383,144 (GRCm39)	E321G	probably damaging	Het
Plcb3	G	A	19: 6,933,547 (GRCm39)	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833 (GRCm39)	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057 (GRCm39)	V34A	probably benign	Het
Prkar2b	A	G	12: 32,110,855 (GRCm39)	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,642,668 (GRCm39)	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,902,455 (GRCm39)	L404Q	probably damaging	Het
Slc26a11	C	T	11: 119,265,654 (GRCm39)	A389V	probably damaging	Het
Slc2a1	A	T	4: 118,993,539 (GRCm39)	T459S	possibly damaging	Het
Spi1	T	C	2: 90,944,685 (GRCm39)	L135P	probably benign	Het
Sspo	T	C	6: 48,463,720 (GRCm39)	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,675,772 (GRCm39)	T616S	probably benign	Het
Syde2	A	G	3: 145,712,896 (GRCm39)		probably null	Het
Synm	G	T	7: 67,384,686 (GRCm39)	A550D	possibly damaging	Het
Tanc2	T	C	11: 105,787,373 (GRCm39)	V891A	possibly damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tlx1	A	T	19: 45,144,413 (GRCm39)	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,096,349 (GRCm39)	Y191*	probably null	Het
Tmem17	A	C	11: 22,468,659 (GRCm39)	*199C	probably null	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,027,256 (GRCm39)	V538A	probably benign	Het
Unc80	A	G	1: 66,734,727 (GRCm39)	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,237,322 (GRCm39)	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,302,665 (GRCm39)	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,528,970 (GRCm39)	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,808,106 (GRCm39)	R230Q	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
R5151:Acvr1b	UTSW	15	101,108,651 (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
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'- CAAGTGAGGGTCATTCATGGG -3'
(R):5'- ATGACTCAACACAGCAGGGC -3'

Sequencing Primer
(F):5'- GTTGGATCCAGCCGTGTC -3'
(R):5'- CCCCGGCCTTCCTCATAAAC -3'

Posted On

2017-06-26