Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Acvr1b'

175527

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

039628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101071953-101111565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101091905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 62 (V62L)

Ref Sequence

ENSEMBL: ENSMUSP00000000544 (fasta)

Gene Model

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

AlphaFold

Q61271

Predicted Effect

probably benign
Transcript: ENSMUST00000000544
AA Change: V62L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000544
Gene: ENSMUSG00000000532
AA Change: V62L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,957,505 (GRCm39)	Q201K	probably benign	Het
Acacb	A	T	5: 114,341,484 (GRCm39)	I829F	possibly damaging	Het
Adam6b	A	T	12: 113,453,452 (GRCm39)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,621,872 (GRCm39)	L703P	probably damaging	Het
Arf3	T	C	15: 98,640,669 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm39)	D357G	probably damaging	Het
Atr	T	C	9: 95,827,438 (GRCm39)	M2461T	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,976,563 (GRCm39)	I1584V	probably benign	Het
Bub3	T	C	7: 131,163,337 (GRCm39)		probably null	Het
Camkk2	A	G	5: 122,895,621 (GRCm39)		probably null	Het
Cand1	G	T	10: 119,047,774 (GRCm39)	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,774,606 (GRCm39)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,873,799 (GRCm39)	T452A	probably benign	Het
Cdh4	T	C	2: 179,528,657 (GRCm39)		probably null	Het
Cfap61	A	G	2: 145,987,378 (GRCm39)	R1060G	probably benign	Het
Chd9	A	G	8: 91,710,166 (GRCm39)	D314G	probably damaging	Het
Cplx3	C	T	9: 57,523,085 (GRCm39)	V125I	probably benign	Het
Csmd1	T	A	8: 15,950,710 (GRCm39)	I3500F	probably damaging	Het
Dnah1	G	T	14: 30,994,289 (GRCm39)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,053,583 (GRCm39)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,652,840 (GRCm39)	I485N	probably benign	Het
Fap	T	C	2: 62,384,201 (GRCm39)	K2E	probably damaging	Het
Fgfr1	G	A	8: 26,062,736 (GRCm39)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,206,201 (GRCm39)	R162Q	possibly damaging	Het
Grap2	A	T	15: 80,532,649 (GRCm39)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm39)	W246R	probably damaging	Het
Kcna3	A	T	3: 106,944,345 (GRCm39)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,110,630 (GRCm39)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,680,057 (GRCm39)	H798P	probably benign	Het
Kif21b	T	C	1: 136,077,055 (GRCm39)	L359P	probably damaging	Het
Krt6a	A	T	15: 101,600,792 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrp3	A	G	7: 34,901,790 (GRCm39)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,363,332 (GRCm39)	K266N	possibly damaging	Het
Mccc1	C	T	3: 36,044,006 (GRCm39)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm39)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,921,755 (GRCm39)	R71*	probably null	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Ogdh	T	C	11: 6,299,384 (GRCm39)	F750S	probably damaging	Het
Or1ak2	C	A	2: 36,827,990 (GRCm39)	N286K	probably damaging	Het
Or51aa2	T	G	7: 103,188,274 (GRCm39)	T56P	probably benign	Het
Or5p60	T	A	7: 107,723,571 (GRCm39)	I300F	possibly damaging	Het
Or8b3	A	G	9: 38,314,232 (GRCm39)	T18A	probably damaging	Het
Or8b42	A	T	9: 38,341,707 (GRCm39)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,030,353 (GRCm39)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,269,252 (GRCm39)	E14G	probably damaging	Het
Pate7	T	C	9: 35,687,952 (GRCm39)	D96G	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,618,878 (GRCm39)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,693,904 (GRCm39)	R109K	probably benign	Het
Ppp2ca	T	C	11: 51,989,916 (GRCm39)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,258,278 (GRCm39)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,288,520 (GRCm39)	C132*	probably null	Het
Rufy1	G	A	11: 50,285,755 (GRCm39)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,074,135 (GRCm39)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,145,819 (GRCm39)	E172G	probably damaging	Het
Skint5	C	T	4: 113,856,651 (GRCm39)		probably null	Het
Slc25a27	A	G	17: 43,964,315 (GRCm39)	I185T	probably benign	Het
Slc41a3	A	C	6: 90,610,677 (GRCm39)	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,291,598 (GRCm39)	F227V	probably damaging	Het
Smg1	T	C	7: 117,756,142 (GRCm39)		probably benign	Het
St6galnac1	A	T	11: 116,656,689 (GRCm39)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,441 (GRCm39)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm39)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,324,164 (GRCm39)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,848,196 (GRCm39)		probably null	Het
Tnfrsf21	T	A	17: 43,396,265 (GRCm39)	S516R	probably benign	Het
Ttn	T	C	2: 76,606,389 (GRCm39)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm39)	S3692T	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,149,459 (GRCm39)		probably benign	Het
Zfp26	T	C	9: 20,348,921 (GRCm39)	T548A	probably benign	Het
Zfp870	C	T	17: 33,102,990 (GRCm39)	G114D	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
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
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'- TAAGGTGCAGTAGTGCCAGCCAAG -3'
(R):5'- CGAAAGGACAAGATGCCCTTCCTC -3'

Sequencing Primer
(F):5'- CCGGCTCTATAAAAGCTGCTTATTG -3'
(R):5'- TCCACGGTGAGGCAACAG -3'

Posted On

2014-04-24