Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Ctnna3'

616638

Institutional Source

Beutler Lab

Gene Symbol

Ctnna3

Ensembl Gene

ENSMUSG00000060843

Gene Name

catenin (cadherin associated protein), alpha 3

Synonyms

Catna3, Vr22, alphaT-catenin, 4930429L08Rik

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63430098-65003667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63582011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 176 (K176R)

Ref Sequence

ENSEMBL: ENSMUSP00000101081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105440] [ENSMUST00000105441]

AlphaFold

Q65CL1

Predicted Effect

probably benign
Transcript: ENSMUST00000075099
AA Change: K176R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: K176R

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105440
AA Change: K176R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: K176R

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105441
AA Change: K176R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: K176R

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 40,795,907	H351Q	probably benign	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,579,696	S126P	probably damaging	Het
Akip1	A	G	7: 109,703,992	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,648,719	R287G		Het
Ankrd13a	A	C	5: 114,804,423	*589S	probably null	Het
Ankrd34c	T	C	9: 89,729,836	I151V	probably damaging	Het
Ano5	T	A	7: 51,593,770	D880E	probably benign	Het
Arl3	A	C	19: 46,558,374	L4R	probably damaging	Het
Ate1	T	A	7: 130,467,388	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr3	C	T	9: 108,829,107	P930S	probably damaging	Het
Cox18	C	T	5: 90,223,813	V43M	probably damaging	Het
Fam135b	T	C	15: 71,462,334	T1004A	probably benign	Het
Fam227a	A	G	15: 79,634,098	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,995,876	I248V	probably benign	Het
Gm4788	A	G	1: 139,736,852	Y490H	probably damaging	Het
Gm5415	T	A	1: 32,546,924		probably benign	Het
Gm6871	T	C	7: 41,545,682	T544A	probably benign	Het
Grm6	A	T	11: 50,864,657	*872L	probably null	Het
Herc1	T	A	9: 66,445,560	Y2109*	probably null	Het
Hsd11b2	T	A	8: 105,519,103	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,665,496	V721A	possibly damaging	Het
Jade1	A	T	3: 41,613,689	I731L	probably benign	Het
Khnyn	G	A	14: 55,887,590	V434I	probably benign	Het
Lrp1	A	G	10: 127,589,619	L714P	probably damaging	Het
Lrrc41	G	A	4: 116,094,888	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,076,951	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,537,086	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,984	R387C	probably damaging	Het
Mro	A	T	18: 73,877,506	D219V	possibly damaging	Het
Myot	T	A	18: 44,354,837	L407Q	probably damaging	Het
Nppa	T	A	4: 148,001,181	W82R	probably damaging	Het
Olfr243	T	A	7: 103,717,325	C244S	probably damaging	Het
Olfr981	T	G	9: 40,022,474	L27R	probably damaging	Het
Olfr994	T	C	2: 85,429,974	N285S	probably damaging	Het
Phip	T	A	9: 82,890,126	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,734,106	I695T	probably benign	Het
Ppp1r10	A	T	17: 35,928,266	M347L	probably benign	Het
Reln	A	T	5: 21,899,084	C3296*	probably null	Het
Slf2	T	A	19: 44,942,317	L611Q	probably damaging	Het
Spire1	G	A	18: 67,501,181	Q396*	probably null	Het
Taf2	A	G	15: 55,048,701	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,156,072	E451K	probably damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tmem267	T	A	13: 119,609,238	V143E	probably damaging	Het
Tyw1	C	T	5: 130,268,072	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wnk4	A	G	11: 101,268,356	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174	C331S	probably benign	Het
Zik1	A	T	7: 10,490,173	C332*	probably null	Het

Other mutations in Ctnna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Ctnna3	APN	10	63566833	missense	probably damaging	1.00
IGL00823:Ctnna3	APN	10	63537543	missense	possibly damaging	0.68
IGL00963:Ctnna3	APN	10	64945949	missense	probably damaging	1.00
IGL01388:Ctnna3	APN	10	63504107	missense	possibly damaging	0.67
IGL01655:Ctnna3	APN	10	64873170	missense	probably benign	0.01
IGL01783:Ctnna3	APN	10	63820469	missense	possibly damaging	0.91
IGL01909:Ctnna3	APN	10	63504131	missense	probably benign	0.11
IGL02160:Ctnna3	APN	10	64250698	missense	probably benign
IGL02267:Ctnna3	APN	10	64945998	missense	probably benign	0.20
IGL02524:Ctnna3	APN	10	64260826	missense	possibly damaging	0.68
IGL02707:Ctnna3	APN	10	63504065	missense	probably benign
IGL03165:Ctnna3	APN	10	64945941	missense	probably damaging	0.98
Bipolar	UTSW	10	64873207	missense	probably damaging	0.96
Catatonia	UTSW	10	64585995	missense	probably benign
hebephrenia	UTSW	10	64260935	missense	probably benign	0.17
multiple	UTSW	10	64250768	missense	probably damaging	1.00
PIT4687001:Ctnna3	UTSW	10	64834606	missense	probably damaging	1.00
R0345:Ctnna3	UTSW	10	63566840	missense	probably benign	0.00
R0387:Ctnna3	UTSW	10	64586130	missense	probably benign	0.00
R0523:Ctnna3	UTSW	10	64675909	missense	probably damaging	0.97
R0647:Ctnna3	UTSW	10	63820424	missense	probably benign	0.00
R0676:Ctnna3	UTSW	10	64409261	missense	probably benign	0.20
R1102:Ctnna3	UTSW	10	64585995	missense	probably benign
R1521:Ctnna3	UTSW	10	64959842	missense	probably benign	0.22
R1700:Ctnna3	UTSW	10	63852772	missense	probably damaging	1.00
R1874:Ctnna3	UTSW	10	63504107	missense	possibly damaging	0.67
R1995:Ctnna3	UTSW	10	63820364	missense	probably damaging	0.98
R2088:Ctnna3	UTSW	10	64873207	missense	probably damaging	0.96
R2198:Ctnna3	UTSW	10	65002745	missense	probably benign	0.00
R4056:Ctnna3	UTSW	10	65002568	missense	probably damaging	1.00
R4208:Ctnna3	UTSW	10	64959778	missense	probably benign	0.22
R4440:Ctnna3	UTSW	10	64260935	missense	probably benign	0.17
R4568:Ctnna3	UTSW	10	63852809	missense	possibly damaging	0.56
R4594:Ctnna3	UTSW	10	64586079	missense	probably benign	0.32
R4835:Ctnna3	UTSW	10	63581944	missense	probably benign	0.01
R4849:Ctnna3	UTSW	10	64873315	missense	probably damaging	1.00
R5682:Ctnna3	UTSW	10	64873306	missense	probably damaging	0.96
R5777:Ctnna3	UTSW	10	64675885	missense	probably benign
R6414:Ctnna3	UTSW	10	64260865	missense	probably benign	0.35
R7210:Ctnna3	UTSW	10	64250768	missense	probably damaging	1.00
R7220:Ctnna3	UTSW	10	64834589	missense	probably benign	0.04
R7680:Ctnna3	UTSW	10	64487550	missense	probably benign
R7934:Ctnna3	UTSW	10	64585968	missense	probably damaging	1.00
R8272:Ctnna3	UTSW	10	65002598	missense	probably damaging	1.00
R8415:Ctnna3	UTSW	10	63504130	missense	probably benign	0.05
R9202:Ctnna3	UTSW	10	64873168	missense	probably damaging	1.00
Z1088:Ctnna3	UTSW	10	63581978	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTACGGTGGGTAAAACTGAAGC -3'
(R):5'- GTGTGCAGAAACCCCTAAAGTAC -3'

Sequencing Primer
(F):5'- ACTGAAGCACACTGTTGACTCTG -3'
(R):5'- GCACTGTACACTGTAGGTAGC -3'

Posted On

2020-01-23