Mutagenetix > Incidental Mutations

Incidental Mutation 'R0523:Ctnna3'

48722

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

038716-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R0523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63430098-65003667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64675909 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 626 (M626R)

Ref Sequence

ENSEMBL: ENSMUSP00000101081 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075099
AA Change: M626R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: M626R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105440
AA Change: M626R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: M626R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105441
AA Change: M626R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: M626R

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: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,644,629	M1K	probably null	Het
2410089E03Rik	T	A	15: 8,194,386	Y878N	probably damaging	Het
A2ml1	T	C	6: 128,558,326	D807G	possibly damaging	Het
Actl9	T	A	17: 33,433,349	W128R	probably damaging	Het
Aggf1	T	C	13: 95,356,416	I562V	probably damaging	Het
Ano3	T	A	2: 110,884,855	E79D	probably benign	Het
Apobec1	T	A	6: 122,581,545	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,109,985	F458L	possibly damaging	Het
BC051142	G	T	17: 34,445,499		probably null	Het
Bco2	A	T	9: 50,534,626	V490E	probably damaging	Het
Catsperg1	G	A	7: 29,185,190		probably benign	Het
Cdc37	T	C	9: 21,142,996	K111R	probably damaging	Het
Cfap54	T	C	10: 92,908,883		probably benign	Het
Cpox	T	A	16: 58,675,245	C308*	probably null	Het
Cyp2c68	T	C	19: 39,739,429	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,806,050	R330W	probably damaging	Het
Diaph1	C	T	18: 37,856,500	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,702,491	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,899,203	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716	R416H	probably damaging	Het
Eef1d	T	C	15: 75,903,156	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,882,166	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,442,096		probably null	Het
Fam71e2	A	G	7: 4,759,393	S246P	possibly damaging	Het
Fcrl5	T	C	3: 87,457,792	S583P	possibly damaging	Het
Grid2ip	C	A	5: 143,373,043	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,925,899	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,216,365		probably null	Het
Igf2r	T	C	17: 12,692,064	I1956V	probably benign	Het
Impdh2	A	T	9: 108,561,819		probably null	Het
Impdh2	C	T	9: 108,561,820	T96I	possibly damaging	Het
Lactb	C	G	9: 66,970,692	G285A	probably benign	Het
Lrrc43	T	C	5: 123,501,242	S445P	probably damaging	Het
Maats1	G	A	16: 38,328,374	P231S	probably damaging	Het
Mapk12	T	G	15: 89,135,645	M120L	probably benign	Het
Mroh8	C	G	2: 157,224,036	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,132,018	H373Q	probably benign	Het
Myocd	A	G	11: 65,180,902	V740A	probably damaging	Het
Naprt	A	G	15: 75,892,465	F300S	probably damaging	Het
Ncam2	T	C	16: 81,461,643	I271T	probably damaging	Het
Nek4	A	G	14: 30,980,038	T582A	probably benign	Het
Notch2	C	T	3: 98,070,970	T89I	probably benign	Het
Notch2	G	A	3: 98,111,598	R692H	probably benign	Het
Nt5c3	A	T	6: 56,883,681	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,436,210	I87F	probably damaging	Het
Oas3	T	C	5: 120,766,144	Q555R	unknown	Het
Olfr1013	T	A	2: 85,769,929	S43T	probably benign	Het
Olfr494	A	T	7: 108,368,231	H247L	probably damaging	Het
Olfr699	A	G	7: 106,790,326	V225A	probably damaging	Het
P3h1	C	A	4: 119,241,530	Q410K	probably benign	Het
Pax3	A	G	1: 78,195,441	V44A	possibly damaging	Het
Pde1c	T	A	6: 56,174,941	L252F	probably damaging	Het
Pdzd7	T	A	19: 45,036,090	T497S	probably benign	Het
Piezo2	T	C	18: 63,022,481	T253A	probably damaging	Het
Pipox	T	C	11: 77,892,139	E79G	probably damaging	Het
Pole	G	T	5: 110,303,593	M829I	probably damaging	Het
Ppp1r12c	A	T	7: 4,489,772	L156Q	probably damaging	Het
Psme2b	T	G	11: 48,945,782	T113P	probably damaging	Het
Ptprq	A	G	10: 107,580,220	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,789,676	T174A	probably damaging	Het
Rcor3	T	G	1: 192,130,436	D81A	probably damaging	Het
Rev3l	T	C	10: 39,848,049	V785A	probably benign	Het
Rnf11	T	C	4: 109,456,922	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,724,066		probably benign	Het
Smad2	T	A	18: 76,262,552	S21T	probably benign	Het
Smc4	A	G	3: 69,025,888	D639G	probably damaging	Het
Smtn	A	T	11: 3,524,664	S716T	possibly damaging	Het
Smug1	G	T	15: 103,155,709	Q262K	probably benign	Het
Sspo	G	T	6: 48,451,860	G403V	probably benign	Het
Tas2r131	A	G	6: 132,957,451	F132L	possibly damaging	Het
Tgm3	T	C	2: 130,044,662		probably null	Het
Tigd2	C	T	6: 59,210,373	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,147,587	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trim47	A	G	11: 116,107,890	L301S	probably damaging	Het
Trim75	G	A	8: 64,983,790	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,251,868	A317S	probably null	Het
Ttc29	G	C	8: 78,276,837	L227F	probably benign	Het
Ttc39d	G	A	17: 80,216,457	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,045,361	R164*	probably null	Het
Ufsp2	T	A	8: 45,996,743	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,251,832	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,050	V833A	probably benign	Het
Zbbx	T	C	3: 75,081,858	T308A	probably benign	Het
Zfp933	G	A	4: 147,826,462	Q226*	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
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
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
Z1088:Ctnna3	UTSW	10	63581978	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CAGGAAGCTGTAGGAATCCAGAATCAC -3'
(R):5'- TGCAGTCACACCCTTCGGAAAGAG -3'

Sequencing Primer
(F):5'- CTGTAGGAATCCAGAATCACAAAGG -3'
(R):5'- GGCTCTTGATCATACTATGAGACACC -3'

Posted On

2013-06-12