Mutagenetix > Incidental Mutations

Incidental Mutation 'R6860:Acvr1c'

535407

Institutional Source

Beutler Lab

Gene Symbol

Acvr1c

Ensembl Gene

ENSMUSG00000026834

Gene Name

activin A receptor, type IC

Synonyms

ALK7, Alk-7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58267453-58357895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58287705 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 171 (G171S)

Ref Sequence

ENSEMBL: ENSMUSP00000108227 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028178
AA Change: G251S

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

SMART Domains

Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: G251S

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: G121S

SMART Domains

Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: G121S

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: G171S

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

SMART Domains

Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: G171S

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

Meta Mutation Damage Score

0.4762

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,625,100	L58P	probably damaging	Het
4933427D14Rik	T	C	11: 72,189,586	E418G	probably damaging	Het
9930012K11Rik	C	A	14: 70,157,622	V28L	possibly damaging	Het
Abtb2	C	T	2: 103,709,425	R712*	probably null	Het
Ahctf1	G	T	1: 179,753,288	A1783E	probably benign	Het
Anapc4	A	T	5: 52,848,828	Q149L	probably damaging	Het
Ankrd27	T	C	7: 35,628,527	V824A	possibly damaging	Het
Ankrd31	G	C	13: 96,831,586	C577S	probably benign	Het
Apol7c	T	C	15: 77,526,074	N224S	probably benign	Het
Arl14	A	T	3: 69,222,696	T59S	probably benign	Het
Astn1	T	A	1: 158,612,472	I870K	probably damaging	Het
B4galt1	A	T	4: 40,807,796	V335E	probably benign	Het
C2cd3	C	T	7: 100,390,241	P216S	probably benign	Het
Cchcr1	C	A	17: 35,529,118	N711K	possibly damaging	Het
Chd2	A	G	7: 73,497,810	F467L	possibly damaging	Het
Cntn6	A	T	6: 104,861,946	E987V	possibly damaging	Het
Col11a2	T	A	17: 34,053,598	L286H	probably damaging	Het
Cwc22	C	T	2: 77,929,448	R85Q	possibly damaging	Het
Cyp7a1	A	C	4: 6,272,587	F209V	probably damaging	Het
Dmtn	T	C	14: 70,614,882	T189A	possibly damaging	Het
Dnhd1	C	G	7: 105,678,266	N777K	probably benign	Het
Dusp16	A	T	6: 134,725,879	C216*	probably null	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	T	C	2: 125,328,158	N1993S	probably damaging	Het
Fbxw22	A	G	9: 109,383,962	S306P	probably benign	Het
Ferd3l	T	C	12: 33,928,652	S55P	probably benign	Het
Fpr-rs3	A	G	17: 20,624,298	S194P	possibly damaging	Het
Gm19965	G	A	1: 116,820,879	D97N	probably benign	Het
Gtpbp2	A	G	17: 46,167,988		probably benign	Het
Hcn3	A	C	3: 89,159,845	I72S	possibly damaging	Het
Hist1h3f	G	T	13: 23,544,590	V36L	probably benign	Het
Hk3	T	A	13: 55,014,465	N109Y	probably damaging	Het
Iqub	T	C	6: 24,505,738	E57G	possibly damaging	Het
Kcnk3	T	A	5: 30,622,053	M149K	possibly damaging	Het
Kcp	C	T	6: 29,505,720	G51D	probably benign	Het
Kif26a	C	A	12: 112,146,829	A53D	probably damaging	Het
Lifr	T	A	15: 7,172,937	I353K	probably benign	Het
Llph	A	T	10: 120,231,284	N102I	probably damaging	Het
Lmo3	C	A	6: 138,416,568	R18L	possibly damaging	Het
Lrrc46	T	C	11: 97,035,545	E175G	probably benign	Het
Ltk	A	T	2: 119,754,594	C128*	probably null	Het
Map1b	T	C	13: 99,434,767	E482G	probably damaging	Het
Mapk8ip2	T	C	15: 89,460,452	V740A	probably damaging	Het
Miga2	T	C	2: 30,371,163	W157R	probably benign	Het
Mlip	A	G	9: 77,102,393	*837Q	probably null	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Myl1	T	C	1: 66,945,058		probably benign	Het
Olfr365	T	C	2: 37,202,177	L312P	possibly damaging	Het
Olfr448	T	C	6: 42,896,816	Y122H	probably benign	Het
Olfr613	A	G	7: 103,551,868	I28V	probably benign	Het
P3h3	A	T	6: 124,857,368	V107D	probably benign	Het
Papolb	A	T	5: 142,528,896	S331T	possibly damaging	Het
Pars2	T	G	4: 106,654,503	V494G	probably benign	Het
Pcdhb3	C	A	18: 37,301,710	T243K	probably benign	Het
Pde9a	T	A	17: 31,470,724	M415K	probably damaging	Het
Ppp1r9b	G	A	11: 94,992,148	A201T	probably benign	Het
Prl	A	G	13: 27,064,959	N197S	possibly damaging	Het
Prl2c1	T	A	13: 27,851,741	M32K	probably benign	Het
Prrt4	T	C	6: 29,170,738	S572G	possibly damaging	Het
Psd	T	A	19: 46,322,419	D397V	probably damaging	Het
Psme2b	A	T	11: 48,945,480	Y213*	probably null	Het
Ptcd3	T	A	6: 71,897,110		probably null	Het
Ptprk	T	G	10: 28,334,484	F167L	probably damaging	Het
Rfx7	T	C	9: 72,616,944	V472A	probably damaging	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Sec16a	T	C	2: 26,430,112	Y1438C	probably damaging	Het
Serinc3	C	T	2: 163,634,446	S155N	probably benign	Het
Slc3a2	A	T	19: 8,713,632	V78E	probably damaging	Het
Slc44a4	T	A	17: 34,921,068	L23Q	probably damaging	Het
Slco5a1	C	T	1: 12,881,196		probably benign	Het
Slit1	A	G	19: 41,616,715	M899T	probably benign	Het
Sorl1	A	G	9: 42,022,392	I1094T	probably benign	Het
Spag9	T	A	11: 94,081,370	L258Q	probably benign	Het
Strip1	T	C	3: 107,618,936	E488G	possibly damaging	Het
Stx18	G	A	5: 38,104,891	D30N	possibly damaging	Het
Sync	T	C	4: 129,287,790		probably null	Het
Syncrip	A	G	9: 88,476,796	V220A	probably damaging	Het
Tagln2	T	C	1: 172,505,909	I110T	probably benign	Het
Taok1	T	C	11: 77,541,801	T729A	probably benign	Het
Tgfbrap1	C	T	1: 43,067,599	V75I	possibly damaging	Het
Tnfrsf21	A	G	17: 43,017,066	T24A	probably benign	Het
Tnxb	T	A	17: 34,713,157	D2221E	probably damaging	Het
Triml1	A	G	8: 43,130,566	S333P	probably damaging	Het
Trp53bp1	C	A	2: 121,199,113	R1862L	probably damaging	Het
Tsc22d1	T	G	14: 76,418,292	I737S	possibly damaging	Het
U2af2	A	T	7: 5,079,274	K462N	possibly damaging	Het
Ubap2	A	C	4: 41,233,631	N86K	probably damaging	Het
Uso1	A	G	5: 92,195,348	K764E	probably benign	Het
Vmn1r192	T	A	13: 22,187,952	M33L	probably benign	Het

Other mutations in Acvr1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Acvr1c	APN	2	58315855	missense	probably damaging	1.00
IGL00543:Acvr1c	APN	2	58315823	missense	probably damaging	1.00
IGL01287:Acvr1c	APN	2	58280242	nonsense	probably null
IGL01313:Acvr1c	APN	2	58315974	missense	probably benign	0.10
IGL01722:Acvr1c	APN	2	58283549	splice site	probably benign
R0035:Acvr1c	UTSW	2	58315779	splice site	probably benign
R0035:Acvr1c	UTSW	2	58315779	splice site	probably benign
R0329:Acvr1c	UTSW	2	58284838	missense	probably damaging	0.96
R0330:Acvr1c	UTSW	2	58284838	missense	probably damaging	0.96
R1311:Acvr1c	UTSW	2	58280249	missense	probably benign	0.04
R1465:Acvr1c	UTSW	2	58284961	missense	probably damaging	1.00
R1465:Acvr1c	UTSW	2	58284961	missense	probably damaging	1.00
R1511:Acvr1c	UTSW	2	58287884	missense	probably damaging	1.00
R1813:Acvr1c	UTSW	2	58280294	missense	probably damaging	1.00
R1896:Acvr1c	UTSW	2	58280294	missense	probably damaging	1.00
R1935:Acvr1c	UTSW	2	58283505	missense	probably damaging	1.00
R1939:Acvr1c	UTSW	2	58283505	missense	probably damaging	1.00
R1940:Acvr1c	UTSW	2	58283505	missense	probably damaging	1.00
R2001:Acvr1c	UTSW	2	58315975	missense	probably benign	0.04
R2002:Acvr1c	UTSW	2	58315975	missense	probably benign	0.04
R2305:Acvr1c	UTSW	2	58281699	missense	probably damaging	1.00
R4786:Acvr1c	UTSW	2	58280354	missense	probably damaging	1.00
R4947:Acvr1c	UTSW	2	58315975	missense	probably benign	0.04
R5121:Acvr1c	UTSW	2	58281650	missense	probably damaging	1.00
R5133:Acvr1c	UTSW	2	58283506	missense	probably damaging	1.00
R5381:Acvr1c	UTSW	2	58287735	missense	probably damaging	1.00
R5383:Acvr1c	UTSW	2	58287735	missense	probably damaging	1.00
R5647:Acvr1c	UTSW	2	58295964	missense	probably damaging	1.00
R5988:Acvr1c	UTSW	2	58315874	missense	probably damaging	1.00
R7137:Acvr1c	UTSW	2	58283387	critical splice donor site	probably null
R7200:Acvr1c	UTSW	2	58315855	missense	probably damaging	1.00
R7278:Acvr1c	UTSW	2	58284936	missense	probably damaging	1.00
R8029:Acvr1c	UTSW	2	58296117	missense	possibly damaging	0.95
R8504:Acvr1c	UTSW	2	58283479	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAATCATTTGCTGCCGC -3'
(R):5'- TTGGTTCAAAGAACAATCGCAAGG -3'

Sequencing Primer
(F):5'- GCCGCACTTCACTGTTTAGTTATGTG -3'
(R):5'- GAACAATCGCAAGGACAATTGTAC -3'

Posted On

2018-09-12