Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:Ctnna3'

211062

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

039896-MU

Accession Numbers

Essential gene?

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

Stock #

R1874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63430098-65003667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63504107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 24 (E24G)

Ref Sequence

ENSEMBL: ENSMUSP00000101081 (fasta)

Gene Model

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

AlphaFold

Q65CL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075099
AA Change: E24G

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: E24G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105440
AA Change: E24G

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: E24G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105441
AA Change: E24G

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: E24G

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

0.8831

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,742,691	S217G	probably benign	Het
Adrb3	C	A	8: 27,227,563	R286L	probably damaging	Het
Akap11	T	A	14: 78,511,866	D1027V	probably benign	Het
Ank3	A	T	10: 69,898,083	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,165,931	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,556	D432G	probably damaging	Het
Ano3	A	C	2: 110,884,872	S74A	probably benign	Het
B4galnt4	T	A	7: 141,070,526	S769T	probably damaging	Het
Bicral	T	A	17: 46,825,178	T369S	probably benign	Het
Blm	A	G	7: 80,497,418	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,925,840	T278A	probably benign	Het
Bpifb5	A	G	2: 154,227,202		probably benign	Het
Brd8	G	C	18: 34,610,474	P266R	probably damaging	Het
Btaf1	A	T	19: 36,980,583	M587L	probably benign	Het
Casz1	C	G	4: 148,943,211	T1015S	probably damaging	Het
Cdh23	A	G	10: 60,436,818	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,835,838	V1825A	probably benign	Het
Cenpf	A	G	1: 189,683,816	L104P	probably damaging	Het
Clasp1	G	T	1: 118,600,585		probably null	Het
Coprs	A	G	8: 13,885,112	W148R	probably damaging	Het
Cpne1	A	G	2: 156,078,382	S168P	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Cubn	T	A	2: 13,323,002	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,483,324	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,660,595	R34L	probably benign	Het
Dnajc7	C	T	11: 100,599,313		probably benign	Het
Eml6	T	G	11: 29,831,136	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,886,223	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,385,111	C212*	probably null	Het
Ffar2	A	G	7: 30,819,414		probably null	Het
Fga	A	T	3: 83,032,721	T561S	probably damaging	Het
Fry	A	G	5: 150,345,921	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,998,231	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,706,021	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,723,515	V12I	possibly damaging	Het
Gli2	C	A	1: 119,002,049	A43S	possibly damaging	Het
Gm15446	T	C	5: 109,942,553	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,586,156		probably benign	Het
Grk6	T	C	13: 55,450,273	Y53H	probably damaging	Het
Hcar1	C	T	5: 123,879,265	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,720,695	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,955,993	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,289,853		probably null	Het
Kif1b	C	T	4: 149,187,632	V1571I	probably benign	Het
Lpl	T	A	8: 68,896,619	C266S	probably damaging	Het
Mag	G	A	7: 30,909,051	H213Y	probably benign	Het
Mansc4	T	G	6: 147,075,190	R309S	probably benign	Het
Mlh3	A	G	12: 85,237,513		probably null	Het
Mndal	G	A	1: 173,860,367		probably benign	Het
Mrgpra2b	T	A	7: 47,463,994	E330V	probably damaging	Het
Myh3	A	G	11: 67,093,179	I990V	probably benign	Het
Myoz2	A	T	3: 123,026,116	S65T	probably damaging	Het
Naa16	T	C	14: 79,355,743	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,797,844	F684S	probably damaging	Het
Notch1	T	C	2: 26,481,579	E286G	possibly damaging	Het
Nynrin	A	T	14: 55,863,493	I247L	probably benign	Het
Olfr136	C	T	17: 38,335,969	P271S	probably damaging	Het
Olfr644	T	C	7: 104,068,129	I301V	probably null	Het
Olfr981	T	A	9: 40,022,855	I154N	possibly damaging	Het
Oprm1	A	G	10: 6,789,035	H54R	probably benign	Het
P4hb	C	T	11: 120,562,166	D483N	probably benign	Het
Pak1	T	C	7: 97,871,580	S149P	probably benign	Het
Pars2	T	C	4: 106,653,716	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,620,945	M88V	possibly damaging	Het
Pms1	A	T	1: 53,207,233	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,763,389	V189L	probably benign	Het
Pole	G	A	5: 110,323,664	V1425M	possibly damaging	Het
Pot1b	T	A	17: 55,654,805	Q591L	probably benign	Het
Ppp1r9a	C	T	6: 4,906,348	T301M	possibly damaging	Het
Psg21	T	C	7: 18,650,816	E335G	probably benign	Het
Ptpru	T	A	4: 131,769,755	M1416L	probably benign	Het
Pxn	T	C	5: 115,544,990	V117A	probably damaging	Het
Qsox1	C	T	1: 155,812,639	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,006	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145	Y23C	probably benign	Het
Sdk2	C	T	11: 113,834,956	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,319,699	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,197,963		probably null	Het
Sirt5	C	T	13: 43,370,791	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,001,398		probably benign	Het
Slx4	A	G	16: 3,986,848	S701P	probably benign	Het
Snx29	A	G	16: 11,367,681	T43A	probably benign	Het
Speg	T	C	1: 75,423,906	V2570A	probably benign	Het
Srrm4	T	A	5: 116,453,506		probably benign	Het
Stk32a	A	G	18: 43,261,316	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,916,110	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,435	I150N	possibly damaging	Het
Tjp1	A	T	7: 65,319,253	D699E	probably damaging	Het
Tmem143	A	G	7: 45,916,564	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 57,047,084	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,429,087	T7S	probably damaging	Het
Ube4b	A	G	4: 149,347,971	L832P	probably damaging	Het
Ugp2	G	T	11: 21,329,048	F379L	probably damaging	Het
Ugt3a2	A	T	15: 9,365,351	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,802,418	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,017,112	P14R	probably benign	Het
Vwc2	C	A	11: 11,261,495	T317K	probably damaging	Het
Vwf	A	T	6: 125,628,372	Q906L	probably benign	Het
Wdr49	A	G	3: 75,429,347	V351A	probably damaging	Het
Wdr7	A	G	18: 63,728,504	S196G	probably benign	Het
Xkr6	C	A	14: 63,798,296	A26E	unknown	Het
Zcchc11	T	A	4: 108,550,725	V1397D	probably damaging	Het
Zfp955b	T	C	17: 33,305,453	I47V	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
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
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'- AGAACCCTCTACTTTGGAAAGAC -3'
(R):5'- TAGTCCCAAGCACTAAGAAGAATG -3'

Sequencing Primer
(F):5'- GCTGATAAGCACtgttttgtt -3'
(R):5'- TGTAGACCTGACTGGCCTTGAAC -3'

Posted On

2014-06-30