Mutagenetix > Incidental Mutation

Incidental Mutation 'R9276:Acvr2b'

703315

Institutional Source

Beutler Lab

Gene Symbol

Acvr2b

Ensembl Gene

ENSMUSG00000061393

Gene Name

activin receptor IIB

Synonyms

ActRIIB

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9276 (G1)

Quality Score

138.008

Status

Not validated

Chromosome

Chromosomal Location

119231184-119264061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119231616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 2 (T2M)

Ref Sequence

ENSEMBL: ENSMUSP00000150566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035093] [ENSMUST00000165044] [ENSMUST00000215746]

AlphaFold

P27040

Predicted Effect

probably benign
Transcript: ENSMUST00000035093
AA Change: T2M

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: T2M

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	27	117	5.4e-13	PFAM
transmembrane domain	130	152	N/A	INTRINSIC
Pfam:Pkinase	206	494	1.5e-55	PFAM
Pfam:Pkinase_Tyr	206	494	2.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165044
AA Change: T2M

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: T2M

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	27	117	5.3e-14	PFAM
transmembrane domain	138	160	N/A	INTRINSIC
Pfam:Pkinase_Tyr	214	502	1.7e-26	PFAM
Pfam:Pkinase	217	501	1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215746
AA Change: T2M

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,819,887 (GRCm39)	R102S	probably benign	Het
Abitram	A	T	4: 56,806,141 (GRCm39)	K184N	probably benign	Het
Adamtsl3	A	G	7: 82,206,710 (GRCm39)		probably benign	Het
Adcy7	A	G	8: 89,052,014 (GRCm39)	Y894C	probably damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Amt	C	A	9: 108,178,410 (GRCm39)	T339K	probably benign	Het
Ankrd27	G	T	7: 35,319,995 (GRCm39)	V639L	probably benign	Het
Anxa10	G	T	8: 62,549,753 (GRCm39)	Q31K	probably damaging	Het
Ap1g2	T	C	14: 55,339,818 (GRCm39)	T454A	probably benign	Het
Boll	A	T	1: 55,399,812 (GRCm39)	I43N	possibly damaging	Het
Cacna1c	T	C	6: 118,601,394 (GRCm39)	D1472G		Het
Calcrl	T	C	2: 84,205,643 (GRCm39)	N16S	probably benign	Het
Ccdc191	C	T	16: 43,764,041 (GRCm39)	Q501*	probably null	Het
Cchcr1	T	C	17: 35,841,105 (GRCm39)	L658P	probably damaging	Het
Cfap46	A	T	7: 139,201,207 (GRCm39)	C1919S	unknown	Het
Col6a3	G	A	1: 90,735,403 (GRCm39)	L1356F	possibly damaging	Het
Dlc1	A	G	8: 37,046,558 (GRCm39)	S680P	possibly damaging	Het
Dock4	T	G	12: 40,699,404 (GRCm39)	M206R	possibly damaging	Het
Eml5	T	C	12: 98,765,060 (GRCm39)	K1630E	probably damaging	Het
Fat1	A	G	8: 45,488,514 (GRCm39)	T3432A	probably damaging	Het
Fcrl5	G	T	3: 87,343,138 (GRCm39)		probably benign	Het
Fcrla	A	G	1: 170,755,135 (GRCm39)		probably benign	Het
Fut4	C	A	9: 14,662,572 (GRCm39)	D241Y	probably benign	Het
Fzd6	A	G	15: 38,870,962 (GRCm39)		probably benign	Het
Gjc2	T	C	11: 59,068,453 (GRCm39)	T10A	probably damaging	Het
Gle1	C	T	2: 29,829,514 (GRCm39)	H203Y	possibly damaging	Het
Gm5565	A	T	5: 146,096,917 (GRCm39)	I74N	probably damaging	Het
Gnl2	T	A	4: 124,947,250 (GRCm39)	I624K	possibly damaging	Het
Gnpat	C	A	8: 125,614,524 (GRCm39)	N653K	probably benign	Het
Gstcd	A	G	3: 132,777,665 (GRCm39)	L382S	probably damaging	Het
Ipcef1	A	G	10: 6,857,936 (GRCm39)		probably benign	Het
Jmjd7	T	C	2: 119,860,895 (GRCm39)	V115A	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp2	T	G	12: 84,876,885 (GRCm39)	D440A	possibly damaging	Het
Macf1	T	G	4: 123,328,501 (GRCm39)	D4744A	probably damaging	Het
Mapk11	T	C	15: 89,029,372 (GRCm39)	D230G	probably damaging	Het
Mfsd6	A	C	1: 52,747,514 (GRCm39)	Y450*	probably null	Het
Mtmr9	A	G	14: 63,781,001 (GRCm39)	C30R	probably damaging	Het
Ncf1	G	A	5: 134,250,693 (GRCm39)	Q376*	probably null	Het
Ncor2	C	A	5: 125,113,150 (GRCm39)	R296M		Het
Or51ah3	A	T	7: 103,210,004 (GRCm39)	T107S	probably damaging	Het
Or5d37	A	G	2: 87,923,806 (GRCm39)	V158A	probably benign	Het
Or5k8	A	G	16: 58,644,734 (GRCm39)	F113L	probably benign	Het
Or8b57	A	T	9: 40,003,632 (GRCm39)	I210K	possibly damaging	Het
Or8b8	C	A	9: 37,809,415 (GRCm39)	S238R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,392 (GRCm39)	L43*	probably null	Het
Pate9	A	T	9: 36,445,727 (GRCm39)	C75S	probably damaging	Het
Pcsk6	A	T	7: 65,559,950 (GRCm39)	I92F	probably damaging	Het
Plec	A	G	15: 76,060,445 (GRCm39)	V3164A	probably benign	Het
Prss16	A	G	13: 22,190,175 (GRCm39)		probably benign	Het
Ptch2	T	A	4: 116,967,505 (GRCm39)	H724Q	probably damaging	Het
Pzp	A	T	6: 128,499,077 (GRCm39)	F190Y	probably damaging	Het
Rab6a	A	G	7: 100,275,809 (GRCm39)	T41A	probably benign	Het
Rbm6	A	G	9: 107,660,926 (GRCm39)	L879P	probably damaging	Het
Rem1	T	A	2: 152,469,969 (GRCm39)		probably benign	Het
Rnf17	T	C	14: 56,719,554 (GRCm39)	S935P	probably damaging	Het
Ryr1	C	A	7: 28,802,254 (GRCm39)	V789L	probably damaging	Het
Scgb2b3	A	T	7: 31,059,528 (GRCm39)	M82K	possibly damaging	Het
Sgce	T	A	6: 4,674,585 (GRCm39)	L451F	probably damaging	Het
Slc25a17	A	C	15: 81,207,814 (GRCm39)	V258G	probably benign	Het
Spidr	G	A	16: 15,784,712 (GRCm39)	T452I	probably benign	Het
Tas2r129	A	G	6: 132,928,576 (GRCm39)	N171S	probably benign	Het
Tbc1d24	A	T	17: 24,405,114 (GRCm39)	V10E	probably damaging	Het
Tdo2	T	G	3: 81,876,885 (GRCm39)	M115L	probably benign	Het
Tdrd9	T	C	12: 111,980,935 (GRCm39)		probably null	Het
Tead1	T	A	7: 112,493,601 (GRCm39)	I376N	probably damaging	Het
Tmem26	A	G	10: 68,614,488 (GRCm39)	H301R	possibly damaging	Het
Tnxb	A	G	17: 34,929,134 (GRCm39)	T2726A	possibly damaging	Het
Trim43c	T	C	9: 88,723,966 (GRCm39)	M164T	probably benign	Het
Trpc1	G	A	9: 95,590,288 (GRCm39)	S723L	probably benign	Het
Txndc15	A	G	13: 55,865,914 (GRCm39)	D126G	probably benign	Het
Urb1	C	T	16: 90,569,463 (GRCm39)		probably benign	Het
Usp25	C	T	16: 76,910,721 (GRCm39)	H926Y	probably benign	Het
Uvssa	T	A	5: 33,572,180 (GRCm39)	M700K	possibly damaging	Het
Vdac1	T	A	11: 52,274,789 (GRCm39)	Y146N	probably damaging	Het
Vmn1r231	A	T	17: 21,110,560 (GRCm39)	S118R	probably benign	Het
Vmn1r41	A	G	6: 89,724,080 (GRCm39)	Y207C	probably damaging	Het
Vmn2r79	A	G	7: 86,687,045 (GRCm39)	I809V	probably damaging	Het
Vnn1	G	A	10: 23,776,794 (GRCm39)	G382R	probably damaging	Het
Xcr1	A	T	9: 123,685,680 (GRCm39)	H27Q	probably benign	Het
Yeats2	T	A	16: 19,975,786 (GRCm39)	N94K	probably benign	Het
Zfp28	C	T	7: 6,397,440 (GRCm39)	T625M	probably damaging	Het
Zfp521	T	C	18: 13,977,698 (GRCm39)	Q905R	probably benign	Het
Zfp804b	T	C	5: 6,821,398 (GRCm39)	D555G	probably damaging	Het

Other mutations in Acvr2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Acvr2b	APN	9	119,261,570 (GRCm39)	missense	probably damaging	1.00
IGL02206:Acvr2b	APN	9	119,257,064 (GRCm39)	nonsense	probably null
IGL03022:Acvr2b	APN	9	119,256,587 (GRCm39)	missense	probably benign	0.10
IGL03131:Acvr2b	APN	9	119,260,350 (GRCm39)	missense	possibly damaging	0.92
R0455:Acvr2b	UTSW	9	119,261,675 (GRCm39)	missense	probably damaging	1.00
R2131:Acvr2b	UTSW	9	119,261,874 (GRCm39)	missense	probably damaging	1.00
R4744:Acvr2b	UTSW	9	119,260,328 (GRCm39)	missense	probably damaging	1.00
R5278:Acvr2b	UTSW	9	119,261,555 (GRCm39)	missense	probably damaging	0.99
R5636:Acvr2b	UTSW	9	119,257,375 (GRCm39)	missense	probably damaging	1.00
R6196:Acvr2b	UTSW	9	119,262,469 (GRCm39)	missense	possibly damaging	0.71
R6253:Acvr2b	UTSW	9	119,257,627 (GRCm39)	missense	probably damaging	1.00
R6424:Acvr2b	UTSW	9	119,231,645 (GRCm39)	missense	probably benign
R6465:Acvr2b	UTSW	9	119,262,369 (GRCm39)	missense	probably damaging	1.00
R7096:Acvr2b	UTSW	9	119,257,255 (GRCm39)	splice site	probably null
R7102:Acvr2b	UTSW	9	119,261,619 (GRCm39)	missense	probably damaging	0.96
R7497:Acvr2b	UTSW	9	119,262,352 (GRCm39)	missense	probably benign
R8557:Acvr2b	UTSW	9	119,261,654 (GRCm39)	missense	probably damaging	0.98
R9041:Acvr2b	UTSW	9	119,257,052 (GRCm39)	nonsense	probably null
R9149:Acvr2b	UTSW	9	119,257,116 (GRCm39)	missense	probably damaging	1.00
R9321:Acvr2b	UTSW	9	119,257,351 (GRCm39)	missense	probably benign	0.01
R9340:Acvr2b	UTSW	9	119,257,492 (GRCm39)	missense	probably damaging	0.98
R9531:Acvr2b	UTSW	9	119,260,392 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATCTCCGCATACTGCCTGG -3'
(R):5'- ATCACCTAGAACCTCTGCGAGC -3'

Sequencing Primer
(F):5'- GCATACTGCCTGGGAACC -3'
(R):5'- GCTCGCCTCTAAGATCGCAAG -3'

Posted On

2022-03-25