Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Acvr1c'

424698

Institutional Source

Beutler Lab

Gene Symbol

Acvr1c

Ensembl Gene

ENSMUSG00000026834

Gene Name

activin A receptor, type IC

Synonyms

Alk-7, ALK7

MMRRC Submission

042956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5381 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	G	T	11: 65,044,137 (GRCm39)	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,262,393 (GRCm39)		noncoding transcript	Het
Ankmy1	T	C	1: 92,804,284 (GRCm39)	T900A	probably benign	Het
Anp32a	A	C	9: 62,279,459 (GRCm39)	E107A	probably damaging	Het
Arhgef40	T	C	14: 52,229,306 (GRCm39)	I623T	probably damaging	Het
Camsap3	T	A	8: 3,653,812 (GRCm39)	I483N	probably damaging	Het
Card9	G	A	2: 26,248,895 (GRCm39)	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,365,849 (GRCm39)	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,852,701 (GRCm39)	L422*	probably null	Het
Ccdc198	T	C	14: 49,470,364 (GRCm39)	D185G	probably damaging	Het
Ccdc73	A	T	2: 104,820,270 (GRCm39)	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,310,073 (GRCm39)	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,791,647 (GRCm39)	N317K	probably benign	Het
Col6a3	T	C	1: 90,703,334 (GRCm39)	R2471G	unknown	Het
Crocc	C	T	4: 140,756,622 (GRCm39)	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,604,611 (GRCm39)	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,407,034 (GRCm39)	D232E	probably benign	Het
Cuedc1	T	A	11: 88,078,812 (GRCm39)		probably null	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dusp6	G	A	10: 99,102,129 (GRCm39)	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,192,516 (GRCm39)	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,032,593 (GRCm39)	T70A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Il12b	C	A	11: 44,298,699 (GRCm39)	D51E	possibly damaging	Het
Il9r	T	G	11: 32,140,715 (GRCm39)	D435A	probably benign	Het
Jakmip2	T	C	18: 43,715,025 (GRCm39)	D167G	probably damaging	Het
Klrd1	A	G	6: 129,572,397 (GRCm39)	D63G	possibly damaging	Het
Lactb	A	G	9: 66,863,297 (GRCm39)	L439P	probably damaging	Het
Laptm5	T	C	4: 130,660,969 (GRCm39)		probably benign	Het
Lgals1	A	G	15: 78,814,223 (GRCm39)	D96G	probably benign	Het
Lrp8	A	T	4: 107,726,307 (GRCm39)	H871L	probably damaging	Het
Mfap4	A	T	11: 61,378,756 (GRCm39)	I235F	probably benign	Het
Muc6	G	A	7: 141,217,836 (GRCm39)	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,449,172 (GRCm39)	Y91*	probably null	Het
Osbp2	A	G	11: 3,655,593 (GRCm39)	Y383H	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Palb2	G	T	7: 121,727,636 (GRCm39)	T78K	probably benign	Het
Panx2	G	T	15: 88,944,433 (GRCm39)	V53L	probably damaging	Het
Pip4p1	T	C	14: 51,166,495 (GRCm39)	E161G	probably benign	Het
Pitx1	T	C	13: 55,973,892 (GRCm39)	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,481,904 (GRCm39)		probably null	Het
Pnldc1	T	G	17: 13,109,283 (GRCm39)	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,559,357 (GRCm39)	T513P	probably benign	Het
Pram1	A	T	17: 33,860,600 (GRCm39)	Q389L	probably damaging	Het
Prg4	T	C	1: 150,330,204 (GRCm39)		probably benign	Het
Prkch	C	A	12: 73,738,366 (GRCm39)	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Rad51c	A	T	11: 87,288,459 (GRCm39)	D241E	probably benign	Het
Rara	T	G	11: 98,862,410 (GRCm39)	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,571,544 (GRCm39)	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,522,810 (GRCm39)	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,149,382 (GRCm39)	L736Q	probably damaging	Het
Slco2a1	A	T	9: 102,945,213 (GRCm39)	D196V	probably damaging	Het
Sp3	C	A	2: 72,800,910 (GRCm39)	A368S	probably benign	Het
Stk24	A	T	14: 121,531,645 (GRCm39)	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,027,379 (GRCm39)	T96A	probably benign	Het
Tm2d3	G	A	7: 65,351,420 (GRCm39)	G225S	probably damaging	Het
Urb2	T	C	8: 124,756,651 (GRCm39)	V786A	probably benign	Het
Usp32	C	T	11: 84,949,953 (GRCm39)		probably benign	Het
Usp54	C	T	14: 20,636,144 (GRCm39)	G300D	probably damaging	Het
Vmn1r124	T	A	7: 20,994,323 (GRCm39)	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 11,775,952 (GRCm39)	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,437,219 (GRCm39)	Q422K	probably benign	Het
Vmn2r76	A	G	7: 85,874,496 (GRCm39)	F827S	probably damaging	Het
Vps52	A	G	17: 34,177,275 (GRCm39)	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zic2	A	G	14: 122,713,227 (GRCm39)	N47S	probably damaging	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
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'- GCCGCACTTCACTGTTTAGTTATG -3'
(R):5'- ACTAGGTCTGCCTCTCTTGG -3'

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

Posted On

2016-08-04