Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Acvr1c'

424828

Institutional Source

Beutler Lab

Gene Symbol

Acvr1c

Ensembl Gene

ENSMUSG00000026834

Gene Name

activin A receptor, type IC

Synonyms

Alk-7, ALK7

MMRRC Submission

042958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5383 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58157465-58247907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58177747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 241 (T241A)

Ref Sequence

ENSEMBL: ENSMUSP00000028178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028178] [ENSMUST00000100085] [ENSMUST00000112607] [ENSMUST00000112608]

AlphaFold

Q8K348

Predicted Effect

probably damaging
Transcript: ENSMUST00000028178
AA Change: T241A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: T241A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Activin_recp	26	100	3.1e-13	PFAM
transmembrane domain	114	136	N/A	INTRINSIC
GS	165	195	1.07e-13	SMART
Blast:TyrKc	201	472	3e-28	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000100085
AA Change: T111A

SMART Domains

Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: T111A

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	1	50	1.1e-7	PFAM
Pfam:TGF_beta_GS	51	63	2.6e-7	PFAM
Pfam:Pkinase	65	352	5.6e-51	PFAM
Pfam:Pkinase_Tyr	65	352	4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112607

SMART Domains

Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Activin_recp	26	100	3.5e-15	PFAM
Pfam:Pkinase	51	325	9.5e-37	PFAM
Pfam:Pkinase_Tyr	92	325	4.8e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112608
AA Change: T161A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: T161A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Activin_recp	26	100	4.9e-15	PFAM
Pfam:TGF_beta_GS	101	113	1.2e-8	PFAM
Pfam:Pkinase	115	402	2.3e-51	PFAM
Pfam:Pkinase_Tyr	115	402	1.6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131189

Meta Mutation Damage Score

0.2754

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and overtly normal with no apparent left-right patterning abnormalities or organogenesis defects. [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
1700010I14Rik	A	T	17: 9,211,532 (GRCm39)	Y227F	possibly damaging	Het
Aadac	T	C	3: 59,943,496 (GRCm39)		probably benign	Het
Abl2	G	A	1: 156,469,802 (GRCm39)	G918E	possibly damaging	Het
Adck1	T	C	12: 88,422,373 (GRCm39)	V328A	probably benign	Het
Ano6	A	G	15: 95,813,918 (GRCm39)	I279V	probably benign	Het
AW551984	T	A	9: 39,501,994 (GRCm39)	Y704F	probably benign	Het
C1s1	T	C	6: 124,511,360 (GRCm39)	D321G	probably damaging	Het
Cacna1d	T	A	14: 29,767,236 (GRCm39)	D1910V	possibly damaging	Het
Cdh5	A	G	8: 104,864,479 (GRCm39)	Q480R	probably benign	Het
Cdhr1	C	T	14: 36,810,964 (GRCm39)	V266M	possibly damaging	Het
Cdk5rap1	A	T	2: 154,192,755 (GRCm39)	V414D	possibly damaging	Het
Ctdnep1	T	A	11: 69,875,222 (GRCm39)		probably benign	Het
Cyfip2	T	C	11: 46,168,918 (GRCm39)	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 25,041,397 (GRCm39)	S273N	probably benign	Het
Ddi2	A	G	4: 141,412,163 (GRCm39)	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,095,409 (GRCm39)	T486A	probably benign	Het
Disc1	A	G	8: 125,862,196 (GRCm39)	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,775,342 (GRCm39)	S313P	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnah11	T	C	12: 118,049,432 (GRCm39)	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,571,103 (GRCm39)	V57E	probably damaging	Het
Fam98a	C	T	17: 75,845,576 (GRCm39)	G390E	unknown	Het
Hook3	C	A	8: 26,609,017 (GRCm39)	R9L	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Impg2	A	G	16: 56,063,989 (GRCm39)	D298G	probably benign	Het
Inf2	T	A	12: 112,566,579 (GRCm39)	V48D	probably damaging	Het
Itprid1	T	A	6: 55,955,275 (GRCm39)	L961H	probably benign	Het
Kcnh1	G	A	1: 192,187,999 (GRCm39)	G820D	probably benign	Het
Lsm14a	C	T	7: 34,088,789 (GRCm39)	A39T	possibly damaging	Het
Muc2	T	C	7: 141,307,456 (GRCm39)	C804R	probably damaging	Het
Nim1k	C	T	13: 120,189,335 (GRCm39)	V25M	probably benign	Het
Or11g25	T	A	14: 50,723,509 (GRCm39)	L198*	probably null	Het
Or4a73	T	C	2: 89,421,457 (GRCm39)	M1V	probably null	Het
Or5b122	T	A	19: 13,563,439 (GRCm39)	M257K	probably damaging	Het
Or6c68	A	G	10: 129,158,205 (GRCm39)	T238A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,231 (GRCm39)	D857G	probably benign	Het
Pitrm1	T	A	13: 6,627,468 (GRCm39)	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,793,349 (GRCm39)	C1679R	probably benign	Het
Pkp4	T	A	2: 59,140,617 (GRCm39)	L441*	probably null	Het
Ppp4r4	T	C	12: 103,550,427 (GRCm39)	F284L	probably benign	Het
Ptprt	T	A	2: 161,539,969 (GRCm39)	K769M	probably damaging	Het
Rbm12	G	T	2: 155,945,285 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,225,146 (GRCm39)	D94G	possibly damaging	Het
Scap	G	T	9: 110,203,597 (GRCm39)	K310N	probably damaging	Het
Smpd2	C	T	10: 41,364,698 (GRCm39)		probably benign	Het
Sp110	TC	TCC	1: 85,519,290 (GRCm39)		probably null	Het
Specc1l	T	A	10: 75,082,539 (GRCm39)	I662N	possibly damaging	Het
Sptan1	T	A	2: 29,901,340 (GRCm39)	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,609,319 (GRCm39)		probably benign	Het
Taf2	A	G	15: 54,912,815 (GRCm39)	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,718,227 (GRCm39)	Q203*	probably null	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Tmem43	G	A	6: 91,450,872 (GRCm39)	A2T	probably benign	Het
Trav9-1	T	A	14: 53,725,833 (GRCm39)	I49N	probably benign	Het
Trim23	T	G	13: 104,335,205 (GRCm39)	N410K	probably damaging	Het
Ttbk1	T	C	17: 46,778,342 (GRCm39)	T567A	probably damaging	Het
Unc79	A	G	12: 103,070,886 (GRCm39)	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,852,887 (GRCm39)	I9R	probably damaging	Het
Zfp563	T	A	17: 33,323,681 (GRCm39)	M92K	probably benign	Het
Zfp618	G	A	4: 63,013,729 (GRCm39)	G198D	probably benign	Het
Zfp637	G	T	6: 117,820,270 (GRCm39)		probably benign	Het

Other mutations in Acvr1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Acvr1c	APN	2	58,205,867 (GRCm39)	missense	probably damaging	1.00
IGL00543:Acvr1c	APN	2	58,205,835 (GRCm39)	missense	probably damaging	1.00
IGL01287:Acvr1c	APN	2	58,170,254 (GRCm39)	nonsense	probably null
IGL01313:Acvr1c	APN	2	58,205,986 (GRCm39)	missense	probably benign	0.10
IGL01722:Acvr1c	APN	2	58,173,561 (GRCm39)	splice site	probably benign
R0035:Acvr1c	UTSW	2	58,205,791 (GRCm39)	splice site	probably benign
R0035:Acvr1c	UTSW	2	58,205,791 (GRCm39)	splice site	probably benign
R0329:Acvr1c	UTSW	2	58,174,850 (GRCm39)	missense	probably damaging	0.96
R0330:Acvr1c	UTSW	2	58,174,850 (GRCm39)	missense	probably damaging	0.96
R1311:Acvr1c	UTSW	2	58,170,261 (GRCm39)	missense	probably benign	0.04
R1465:Acvr1c	UTSW	2	58,174,973 (GRCm39)	missense	probably damaging	1.00
R1465:Acvr1c	UTSW	2	58,174,973 (GRCm39)	missense	probably damaging	1.00
R1511:Acvr1c	UTSW	2	58,177,896 (GRCm39)	missense	probably damaging	1.00
R1813:Acvr1c	UTSW	2	58,170,306 (GRCm39)	missense	probably damaging	1.00
R1896:Acvr1c	UTSW	2	58,170,306 (GRCm39)	missense	probably damaging	1.00
R1935:Acvr1c	UTSW	2	58,173,517 (GRCm39)	missense	probably damaging	1.00
R1939:Acvr1c	UTSW	2	58,173,517 (GRCm39)	missense	probably damaging	1.00
R1940:Acvr1c	UTSW	2	58,173,517 (GRCm39)	missense	probably damaging	1.00
R2001:Acvr1c	UTSW	2	58,205,987 (GRCm39)	missense	probably benign	0.04
R2002:Acvr1c	UTSW	2	58,205,987 (GRCm39)	missense	probably benign	0.04
R2305:Acvr1c	UTSW	2	58,171,711 (GRCm39)	missense	probably damaging	1.00
R4786:Acvr1c	UTSW	2	58,170,366 (GRCm39)	missense	probably damaging	1.00
R4947:Acvr1c	UTSW	2	58,205,987 (GRCm39)	missense	probably benign	0.04
R5121:Acvr1c	UTSW	2	58,171,662 (GRCm39)	missense	probably damaging	1.00
R5133:Acvr1c	UTSW	2	58,173,518 (GRCm39)	missense	probably damaging	1.00
R5381:Acvr1c	UTSW	2	58,177,747 (GRCm39)	missense	probably damaging	1.00
R5647:Acvr1c	UTSW	2	58,185,976 (GRCm39)	missense	probably damaging	1.00
R5988:Acvr1c	UTSW	2	58,205,886 (GRCm39)	missense	probably damaging	1.00
R6860:Acvr1c	UTSW	2	58,177,717 (GRCm39)	missense	probably damaging	1.00
R7137:Acvr1c	UTSW	2	58,173,399 (GRCm39)	critical splice donor site	probably null
R7200:Acvr1c	UTSW	2	58,205,867 (GRCm39)	missense	probably damaging	1.00
R7278:Acvr1c	UTSW	2	58,174,948 (GRCm39)	missense	probably damaging	1.00
R8029:Acvr1c	UTSW	2	58,186,129 (GRCm39)	missense	possibly damaging	0.95
R8504:Acvr1c	UTSW	2	58,173,491 (GRCm39)	missense	probably damaging	1.00
R9718:Acvr1c	UTSW	2	58,206,007 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCGCACTTCACTGTTTAGTTATG -3'
(R):5'- ACTAGGTCTGCCTCTCTTGG -3'

Sequencing Primer
(F):5'- TGCATTTGTATGTGGGAAAGAAAAG -3'
(R):5'- GCCTCTCTTGGTTCAAAGAACAATCG -3'

Posted On

2016-08-04