Mutagenetix > Incidental Mutation

Incidental Mutation 'R2001:Acvr1c'

225890

Institutional Source

Beutler Lab

Gene Symbol

Acvr1c

Ensembl Gene

ENSMUSG00000026834

Gene Name

activin A receptor, type IC

Synonyms

Alk-7, ALK7

MMRRC Submission

040011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58157465-58247907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58205987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 41 (Q41L)

Ref Sequence

ENSEMBL: ENSMUSP00000028178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028178] [ENSMUST00000100085] [ENSMUST00000112607] [ENSMUST00000112608] [ENSMUST00000154453]

AlphaFold

Q8K348

Predicted Effect

probably benign
Transcript: ENSMUST00000028178
AA Change: Q41L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: Q41L

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

probably benign
Transcript: ENSMUST00000100085

SMART Domains

Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834

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
AA Change: Q41L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834
AA Change: Q41L

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 benign
Transcript: ENSMUST00000112608
AA Change: Q41L

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

SMART Domains

Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: Q41L

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

probably benign
Transcript: ENSMUST00000154453

SMART Domains

Protein: ENSMUSP00000119776
Gene: ENSMUSG00000026834

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	1	50	2.7e-9	PFAM

Meta Mutation Damage Score

0.2274

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,571,800 (GRCm39)	S559P	probably benign	Het
A430005L14Rik	T	A	4: 154,044,314 (GRCm39)	C42S	probably damaging	Het
Abca13	A	T	11: 9,223,967 (GRCm39)	T449S	probably benign	Het
Adamts13	C	T	2: 26,864,002 (GRCm39)	P60L	probably benign	Het
Adamts20	T	C	15: 94,245,599 (GRCm39)	T568A	possibly damaging	Het
Ago1	T	C	4: 126,348,187 (GRCm39)	I44V	probably null	Het
Agtpbp1	TGAAGATGCATCTTGAGAAGA	TGAAGA	13: 59,623,617 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,467,293 (GRCm39)	V39E	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Astn1	A	G	1: 158,348,091 (GRCm39)	N506D	probably damaging	Het
BC051019	G	A	7: 109,319,758 (GRCm39)	Q102*	probably null	Het
Bpifb5	A	G	2: 154,075,199 (GRCm39)	T376A	possibly damaging	Het
Ccdc121rt1	G	T	1: 181,338,551 (GRCm39)	Q134K	probably benign	Het
Ccl20	ATT	ATTT	1: 83,095,576 (GRCm39)		probably null	Het
Ccl6	G	T	11: 83,480,163 (GRCm39)	P68T	possibly damaging	Het
Cd300ld	A	T	11: 114,878,156 (GRCm39)	F119I	probably benign	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cemip2	A	G	19: 21,779,351 (GRCm39)	D387G	probably benign	Het
Chkb	C	T	15: 89,312,969 (GRCm39)	G36E	probably damaging	Het
Col11a1	A	G	3: 113,958,942 (GRCm39)		probably null	Het
Ctla2b	T	C	13: 61,043,881 (GRCm39)	Y120C	probably damaging	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Cyp2a22	G	A	7: 26,634,197 (GRCm39)	P319L	probably damaging	Het
Dcaf12	A	C	4: 41,302,804 (GRCm39)	V117G	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dgki	T	C	6: 36,842,736 (GRCm39)	D923G	possibly damaging	Het
Dhx37	G	T	5: 125,504,528 (GRCm39)	T345K	probably damaging	Het
Dhx9	A	T	1: 153,331,857 (GRCm39)	Y1370*	probably null	Het
Dnah7b	T	C	1: 46,181,247 (GRCm39)	S1045P	possibly damaging	Het
Dnmbp	G	C	19: 43,838,612 (GRCm39)	T1071S	possibly damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Dst	A	T	1: 34,223,144 (GRCm39)	E1625D	probably damaging	Het
Egflam	T	A	15: 7,272,048 (GRCm39)	H630L	probably benign	Het
Elane	T	C	10: 79,723,593 (GRCm39)	V186A	possibly damaging	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Get3	T	C	8: 85,751,789 (GRCm39)	S36G	probably damaging	Het
Gfra1	A	G	19: 58,288,707 (GRCm39)	L246P	probably damaging	Het
Gria2	T	C	3: 80,618,112 (GRCm39)	T308A	probably benign	Het
Grip2	A	T	6: 91,756,831 (GRCm39)	V540D	probably benign	Het
Hhipl1	A	T	12: 108,288,118 (GRCm39)	I575F	possibly damaging	Het
Hmcn1	T	A	1: 150,614,364 (GRCm39)	E1347D	possibly damaging	Het
Itga2b	C	A	11: 102,358,165 (GRCm39)	A187S	probably benign	Het
Kalrn	C	A	16: 33,848,415 (GRCm39)	R469M	probably damaging	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lck	T	C	4: 129,442,730 (GRCm39)	N475S	probably benign	Het
Leng8	A	G	7: 4,148,073 (GRCm39)	N642S	probably damaging	Het
Lingo4	T	A	3: 94,310,382 (GRCm39)	I440N	probably damaging	Het
Lrrc4	A	G	6: 28,830,904 (GRCm39)	F237S	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Naip2	A	T	13: 100,281,096 (GRCm39)	I1316N	probably damaging	Het
Naip6	C	T	13: 100,437,237 (GRCm39)	G429S	probably benign	Het
Noct	C	T	3: 51,155,465 (GRCm39)	R78C	probably damaging	Het
Npbwr1	A	G	1: 5,987,394 (GRCm39)	V40A	possibly damaging	Het
Nsd2	A	G	5: 34,000,746 (GRCm39)	N88D	probably damaging	Het
Or1e29	T	A	11: 73,667,539 (GRCm39)	I205F	probably benign	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or6c210	T	A	10: 129,496,290 (GRCm39)	I205N	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pard3	C	T	8: 127,791,097 (GRCm39)		probably null	Het
Pde4c	A	G	8: 71,200,007 (GRCm39)		probably null	Het
Pde6h	T	A	6: 136,940,203 (GRCm39)	I63N	probably damaging	Het
Phldb2	T	C	16: 45,594,558 (GRCm39)	K916E	possibly damaging	Het
Ppig	T	C	2: 69,571,988 (GRCm39)	S236P	unknown	Het
Ptprd	T	C	4: 75,872,359 (GRCm39)	Y1370C	probably damaging	Het
Pzp	T	C	6: 128,493,083 (GRCm39)	T352A	probably benign	Het
Rab3gap1	A	G	1: 127,831,456 (GRCm39)	Y177C	possibly damaging	Het
Rasgef1a	G	A	6: 118,066,157 (GRCm39)	V457M	probably benign	Het
Scel	A	T	14: 103,848,226 (GRCm39)	T616S	possibly damaging	Het
Sel1l	A	T	12: 91,793,324 (GRCm39)	Y228*	probably null	Het
Sgms1	A	G	19: 32,137,083 (GRCm39)	V161A	possibly damaging	Het
Slfnl1	T	C	4: 120,390,424 (GRCm39)	L25P	probably benign	Het
Smad5	A	G	13: 56,885,187 (GRCm39)	T432A	probably damaging	Het
Sohlh2	T	C	3: 55,099,762 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,383 (GRCm39)	M835K	probably damaging	Het
Sqor	A	C	2: 122,640,018 (GRCm39)	T174P	probably damaging	Het
Stkld1	T	C	2: 26,842,759 (GRCm39)	V577A	probably damaging	Het
Sulf2	T	A	2: 165,922,773 (GRCm39)	E652D	probably benign	Het
Sycp2	T	A	2: 178,019,848 (GRCm39)	Q556L	probably benign	Het
Syk	A	G	13: 52,765,274 (GRCm39)	T134A	probably benign	Het
Tas2r122	T	A	6: 132,688,585 (GRCm39)	I103F	possibly damaging	Het
Tex10	A	G	4: 48,451,940 (GRCm39)	W729R	probably damaging	Het
Tex261	G	T	6: 83,750,713 (GRCm39)	P95T	probably damaging	Het
Tm2d2	T	C	8: 25,507,523 (GRCm39)	S47P	probably benign	Het
Tmem95	A	G	11: 69,767,817 (GRCm39)	S128P	probably damaging	Het
Tnxb	G	A	17: 34,911,553 (GRCm39)	A1619T	possibly damaging	Het
Trappc9	A	G	15: 72,929,885 (GRCm39)	I157T	probably damaging	Het
Unc13c	T	A	9: 73,390,897 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,265,803 (GRCm39)	Y210F	probably damaging	Het
Urb1	T	C	16: 90,559,232 (GRCm39)	M1684V	probably benign	Het
Wnk2	G	A	13: 49,232,158 (GRCm39)	P727S	possibly damaging	Het
Zfp1004	T	A	2: 150,034,867 (GRCm39)	M396K	probably benign	Het
Zfp551	A	T	7: 12,150,276 (GRCm39)	S378T	probably damaging	Het
Zfp598	T	C	17: 24,888,898 (GRCm39)	V56A	possibly damaging	Het
Zfp945	C	T	17: 23,076,223 (GRCm39)		probably null	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
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
R5383: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'- AGCAACTGTCTTACCTGTGGG -3'
(R):5'- CTATTTGATGAAGCACAGGATCAAG -3'

Sequencing Primer
(F):5'- CCTGTGGGAAGGTGCAG -3'
(R):5'- CACAGGATCAAGAGGGCATCTTTATC -3'

Posted On

2014-08-25