Mutagenetix > Incidental Mutation

Incidental Mutation 'R2223:Acvr1b'

241637

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

040224-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101071953-101111565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101100924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 362 (A362V)

Ref Sequence

ENSEMBL: ENSMUSP00000000544 (fasta)

Gene Model

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

AlphaFold

Q61271

Predicted Effect

probably benign
Transcript: ENSMUST00000000544
AA Change: A362V

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000000544
Gene: ENSMUSG00000000532
AA Change: A362V

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

Meta Mutation Damage Score

0.1141

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,889,296 (GRCm39)		probably benign	Het
Adamts5	A	C	16: 85,696,194 (GRCm39)	L321R	probably damaging	Het
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
Atp8b1	T	A	18: 64,697,428 (GRCm39)	N472I	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,141,412 (GRCm39)	E242G	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Cryz	A	T	3: 154,324,191 (GRCm39)	N192I	possibly damaging	Het
Cyp2d11	T	A	15: 82,274,332 (GRCm39)	M350L	probably benign	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Exoc3l4	C	G	12: 111,392,586 (GRCm39)	A471G	possibly damaging	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fmo2	C	T	1: 162,725,813 (GRCm39)	C21Y	probably damaging	Het
Glul	T	A	1: 153,782,243 (GRCm39)		probably null	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gtpbp2	A	G	17: 46,478,153 (GRCm39)	I434V	probably benign	Het
Kctd10	G	T	5: 114,505,410 (GRCm39)	R195S	probably benign	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Luc7l2	T	C	6: 38,542,659 (GRCm39)		probably benign	Het
Magi2	T	A	5: 20,670,670 (GRCm39)	V111D	probably damaging	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mgat4d	G	A	8: 84,082,301 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,292,245 (GRCm39)		probably null	Het
Mx1	T	C	16: 97,256,432 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,046,815 (GRCm39)		probably benign	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Or6c210	T	A	10: 129,495,678 (GRCm39)	M1K	probably null	Het
Pde8b	T	C	13: 95,179,955 (GRCm39)	N318S	probably damaging	Het
Pkd1l1	T	C	11: 8,839,063 (GRCm39)	T874A	probably benign	Het
Pkd1l1	T	C	11: 8,900,422 (GRCm39)	T40A	probably benign	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Ptprn	A	T	1: 75,234,581 (GRCm39)		probably benign	Het
Setx	T	G	2: 29,038,549 (GRCm39)	I1678S	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Sp8	G	A	12: 118,813,473 (GRCm39)	G443S	probably damaging	Het
Stk39	C	T	2: 68,144,923 (GRCm39)	G384S	probably damaging	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Trip10	A	G	17: 57,570,039 (GRCm39)	D568G	possibly damaging	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Uvssa	C	T	5: 33,549,407 (GRCm39)	T356I	probably damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Zfp516	C	A	18: 82,973,895 (GRCm39)	A31D	possibly 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
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
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'- AGCCCAGAATCCTCTCAGAG -3'
(R):5'- ACACTGCTGTCAAGTGTCCC -3'

Sequencing Primer
(F):5'- AGAGTCCACACATTTCCTATGC -3'
(R):5'- ACTGCTGTCAAGTGTCCCAGTATG -3'

Posted On

2014-10-15