Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Ctnna3'

238505

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

040200-MU

Accession Numbers

Essential gene?

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

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63430098-65003667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65002745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 867 (T867K)

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: T867K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: T867K

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: T867K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: T867K

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: T867K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: T867K

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	T	7: 29,527,272		noncoding transcript	Het
Adra1a	T	C	14: 66,637,936	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,577,465	P186L	probably damaging	Het
Alpk2	T	C	18: 65,350,184	K251R	probably benign	Het
Ank2	T	C	3: 126,934,577	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,545,769		probably null	Het
Cacna2d4	T	C	6: 119,347,259		probably benign	Het
Carf	G	A	1: 60,141,484	R355H	probably damaging	Het
Cdh20	A	T	1: 104,947,322		probably null	Het
Celf6	G	T	9: 59,603,339	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,332,593	I475N	probably benign	Het
Chdh	T	A	14: 30,031,532	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,079,941	D478N	possibly damaging	Het
Ctse	T	G	1: 131,672,447	Y311*	probably null	Het
Ddx60	T	A	8: 61,958,063	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,859,499	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,461,442	S543P	probably benign	Het
Dspp	A	T	5: 104,175,701	T237S	probably benign	Het
Eml6	T	G	11: 29,850,935	H357P	probably benign	Het
Epha3	T	C	16: 63,844,144	I38V	possibly damaging	Het
Erap1	C	T	13: 74,646,687	T155I	probably damaging	Het
Erh	T	C	12: 80,642,785		probably benign	Het
F5	A	T	1: 164,207,034	K1834M	probably damaging	Het
Fyn	A	G	10: 39,529,545	E269G	probably benign	Het
Gm4884	A	G	7: 41,040,805	T42A	probably benign	Het
Gm8979	T	A	7: 106,083,551	M166L	probably benign	Het
Grm1	T	G	10: 10,782,776	R323S	probably damaging	Het
Gstt4	T	C	10: 75,822,401	D8G	probably damaging	Het
Ldlr	A	G	9: 21,732,402	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,265,741		probably null	Het
Naip2	A	T	13: 100,152,592	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,329,400	R88G	probably benign	Het
Nlgn1	C	T	3: 25,433,761	M803I	probably damaging	Het
Olfr1388	C	T	11: 49,443,959	S36F	probably benign	Het
Olfr1537	G	A	9: 39,237,752	T224I	possibly damaging	Het
Olfr458	A	G	6: 42,461,016	M1T	probably null	Het
Olfr794	T	A	10: 129,571,046	Y130*	probably null	Het
Pip4k2a	A	T	2: 18,847,655	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,483,360	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497	G345R	possibly damaging	Het
Shc4	A	T	2: 125,639,346	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,763,263		probably benign	Het
Slc8a1	T	A	17: 81,408,256	K783*	probably null	Het
Sobp	A	C	10: 43,022,524	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,763,271	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,590,313	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,887,459	P251L	probably damaging	Het
Tnks	A	T	8: 34,848,649	D994E	probably benign	Het
Tnks	C	T	8: 34,873,067	D466N	probably benign	Het
Tonsl	A	G	15: 76,636,672	F394L	probably benign	Het
Trpa1	T	A	1: 14,910,746	Y144F	probably benign	Het
Usp22	A	G	11: 61,159,337	F324S	probably damaging	Het
Vmn1r78	G	T	7: 12,152,560	V33F	probably benign	Het
Wdr81	C	T	11: 75,446,081	R1494Q	probably benign	Het
Zc3h14	G	A	12: 98,752,810	V145M	possibly damaging	Het
Zc3h14	G	A	12: 98,752,809	M144I	probably damaging	Het
Zfp82	T	C	7: 30,057,511	T49A	probably benign	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
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
R8006:Ctnna3	UTSW	10	63582011	missense	probably benign	0.02
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'- AGTTGGACAGTGTCACCTCC -3'
(R):5'- TGTGAGCTTAACTCTGAAACTTGG -3'

Sequencing Primer
(F):5'- GGACAGTGTCACCTCCCTGATC -3'
(R):5'- TGGTGAAATTAAAGAACCAATGAACC -3'

Posted On

2014-10-02