Mutagenetix > Incidental Mutations

Incidental Mutation 'R6025:Acvr1b'

480000

Institutional Source

Beutler Lab

Gene Symbol

Acvr1b

Ensembl Gene

ENSMUSG00000000532

Gene Name

activin A receptor, type 1B

Synonyms

ActR-IB, ActRIB, Alk4, SKR2, Acvrlk4

MMRRC Submission

044197-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101174067-101213684 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101194975 bp

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]

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: 59,210,313		probably null	Het
Adgra2	T	C	8: 27,114,463	I522T	probably damaging	Het
Adgre4	C	T	17: 55,792,013	S173L	probably benign	Het
Akap9	A	T	5: 4,032,801	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,710,464	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,541,575		probably null	Het
Chd6	T	C	2: 160,965,582	N1904S	probably benign	Het
Clstn3	A	T	6: 124,431,664	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,828,102	D155V	probably damaging	Het
Dct	T	C	14: 118,036,464	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,193,691		probably null	Het
Dgkz	T	C	2: 91,945,910	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,301,851	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,239,156	V82E	probably damaging	Het
Fam71e2	T	A	7: 4,758,144	D523V	probably benign	Het
Fcho1	A	T	8: 71,712,573		probably null	Het
Ifi213	T	A	1: 173,595,234	N22Y	probably damaging	Het
Kcnq1	T	A	7: 143,106,433		probably benign	Het
Kif7	T	A	7: 79,704,640	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,729,384	L206*	probably null	Het
Lonp2	G	T	8: 86,713,373	G247V	probably damaging	Het
Ly75	T	C	2: 60,375,962	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,224,526	T224K	probably benign	Het
Mcm9	T	C	10: 53,615,977	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,862,797	I322N	probably damaging	Het
Nanog	G	A	6: 122,713,391	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633	L638M	probably benign	Het
Nelfcd	T	C	2: 174,426,818	V538A	probably damaging	Het
Olfr124	T	G	17: 37,805,421	I92S	probably damaging	Het
Olfr1447	T	A	19: 12,901,670	T37S	probably benign	Het
Olfr393	A	T	11: 73,847,919	S69T	probably benign	Het
Olfr69	T	C	7: 103,768,209	I63V	probably benign	Het
Phf24	G	A	4: 42,938,780		probably null	Het
Pigz	T	C	16: 31,945,710	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,492,318	E321G	probably damaging	Het
Plcb3	G	A	19: 6,956,179	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057	V34A	probably benign	Het
Prkar2b	A	G	12: 32,060,856	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,639,669	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Setbp1	A	T	18: 78,859,240	L404Q	probably damaging	Het
Slc26a11	C	T	11: 119,374,828	A389V	probably damaging	Het
Slc2a1	A	T	4: 119,136,342	T459S	possibly damaging	Het
Spi1	T	C	2: 91,114,340	L135P	probably benign	Het
Sspo	T	C	6: 48,486,786	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,800,028	T616S	probably benign	Het
Syde2	A	G	3: 146,007,141		probably null	Het
Synm	G	T	7: 67,734,938	A550D	possibly damaging	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,896,547	V891A	possibly damaging	Het
Tlx1	A	T	19: 45,155,974	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,205,523	Y191*	probably null	Het
Tmem17	A	C	11: 22,518,659	*199C	probably null	Het
Tns3	A	T	11: 8,492,578	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,115,960	V538A	probably benign	Het
Unc80	A	G	1: 66,695,568	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,360,123	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,065,208	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,829,545	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,950,909	R230Q	probably damaging	Het

Other mutations in Acvr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02983:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03010:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03011:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03013:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03051:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03127:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03166:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL03265:Acvr1b	APN	15	101203078	missense	probably damaging	0.98
IGL02980:Acvr1b	UTSW	15	101203078	missense	probably damaging	0.98
IGL02984:Acvr1b	UTSW	15	101203078	missense	probably damaging	0.98
R1367:Acvr1b	UTSW	15	101193938	missense	possibly damaging	0.58
R1498:Acvr1b	UTSW	15	101194010	missense	probably benign
R1591:Acvr1b	UTSW	15	101194024	missense	probably benign
R1757:Acvr1b	UTSW	15	101198822	missense	possibly damaging	0.47
R1793:Acvr1b	UTSW	15	101194025	missense	probably benign	0.01
R2223:Acvr1b	UTSW	15	101203043	missense	probably benign	0.10
R2249:Acvr1b	UTSW	15	101203094	missense	probably null	1.00
R4674:Acvr1b	UTSW	15	101203058	missense	possibly damaging	0.94
R4676:Acvr1b	UTSW	15	101202986	missense	probably damaging	1.00
R5151:Acvr1b	UTSW	15	101210770	missense	probably damaging	1.00
R5223:Acvr1b	UTSW	15	101193976	missense	probably damaging	1.00
R5397:Acvr1b	UTSW	15	101198964	missense	probably damaging	0.99
R5574:Acvr1b	UTSW	15	101202077	missense	probably benign	0.03
R5906:Acvr1b	UTSW	15	101193891	intron	probably benign
R6467:Acvr1b	UTSW	15	101194841	missense	possibly damaging	0.86
R7158:Acvr1b	UTSW	15	101194058	missense	probably benign
X0067:Acvr1b	UTSW	15	101194022	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