Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Ctnna3'

31360

Institutional Source

Beutler Lab

Gene Symbol

Ctnna3

Ensembl Gene

ENSMUSG00000060843

Gene Name

catenin alpha 3

Synonyms

4930429L08Rik, catenin (cadherin associated protein), alpha 3, alphaT-catenin, Vr22, Catna3

MMRRC Submission

038593-MU

Accession Numbers

Essential gene?

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

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63265877-64839446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64421909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 568 (M568V)

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: M568V

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

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: M568V

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: M568V

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

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: M568V

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: M568V

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

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: M568V

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

0.1334

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	Het

Other mutations in Ctnna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Ctnna3	APN	10	63,402,612 (GRCm39)	missense	probably damaging	1.00
IGL00823:Ctnna3	APN	10	63,373,322 (GRCm39)	missense	possibly damaging	0.68
IGL00963:Ctnna3	APN	10	64,781,728 (GRCm39)	missense	probably damaging	1.00
IGL01388:Ctnna3	APN	10	63,339,886 (GRCm39)	missense	possibly damaging	0.67
IGL01655:Ctnna3	APN	10	64,708,949 (GRCm39)	missense	probably benign	0.01
IGL01783:Ctnna3	APN	10	63,656,248 (GRCm39)	missense	possibly damaging	0.91
IGL01909:Ctnna3	APN	10	63,339,910 (GRCm39)	missense	probably benign	0.11
IGL02160:Ctnna3	APN	10	64,086,477 (GRCm39)	missense	probably benign
IGL02267:Ctnna3	APN	10	64,781,777 (GRCm39)	missense	probably benign	0.20
IGL02524:Ctnna3	APN	10	64,096,605 (GRCm39)	missense	possibly damaging	0.68
IGL02707:Ctnna3	APN	10	63,339,844 (GRCm39)	missense	probably benign
IGL03165:Ctnna3	APN	10	64,781,720 (GRCm39)	missense	probably damaging	0.98
Bipolar	UTSW	10	64,708,986 (GRCm39)	missense	probably damaging	0.96
Catatonia	UTSW	10	64,421,774 (GRCm39)	missense	probably benign
hebephrenia	UTSW	10	64,096,714 (GRCm39)	missense	probably benign	0.17
multiple	UTSW	10	64,086,547 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Ctnna3	UTSW	10	64,670,385 (GRCm39)	missense	probably damaging	1.00
R0345:Ctnna3	UTSW	10	63,402,619 (GRCm39)	missense	probably benign	0.00
R0523:Ctnna3	UTSW	10	64,511,688 (GRCm39)	missense	probably damaging	0.97
R0647:Ctnna3	UTSW	10	63,656,203 (GRCm39)	missense	probably benign	0.00
R0676:Ctnna3	UTSW	10	64,245,040 (GRCm39)	missense	probably benign	0.20
R1102:Ctnna3	UTSW	10	64,421,774 (GRCm39)	missense	probably benign
R1521:Ctnna3	UTSW	10	64,795,621 (GRCm39)	missense	probably benign	0.22
R1700:Ctnna3	UTSW	10	63,688,551 (GRCm39)	missense	probably damaging	1.00
R1874:Ctnna3	UTSW	10	63,339,886 (GRCm39)	missense	possibly damaging	0.67
R1995:Ctnna3	UTSW	10	63,656,143 (GRCm39)	missense	probably damaging	0.98
R2088:Ctnna3	UTSW	10	64,708,986 (GRCm39)	missense	probably damaging	0.96
R2198:Ctnna3	UTSW	10	64,838,524 (GRCm39)	missense	probably benign	0.00
R4056:Ctnna3	UTSW	10	64,838,347 (GRCm39)	missense	probably damaging	1.00
R4208:Ctnna3	UTSW	10	64,795,557 (GRCm39)	missense	probably benign	0.22
R4440:Ctnna3	UTSW	10	64,096,714 (GRCm39)	missense	probably benign	0.17
R4568:Ctnna3	UTSW	10	63,688,588 (GRCm39)	missense	possibly damaging	0.56
R4594:Ctnna3	UTSW	10	64,421,858 (GRCm39)	missense	probably benign	0.32
R4835:Ctnna3	UTSW	10	63,417,723 (GRCm39)	missense	probably benign	0.01
R4849:Ctnna3	UTSW	10	64,709,094 (GRCm39)	missense	probably damaging	1.00
R5682:Ctnna3	UTSW	10	64,709,085 (GRCm39)	missense	probably damaging	0.96
R5777:Ctnna3	UTSW	10	64,511,664 (GRCm39)	missense	probably benign
R6414:Ctnna3	UTSW	10	64,096,644 (GRCm39)	missense	probably benign	0.35
R7210:Ctnna3	UTSW	10	64,086,547 (GRCm39)	missense	probably damaging	1.00
R7220:Ctnna3	UTSW	10	64,670,368 (GRCm39)	missense	probably benign	0.04
R7680:Ctnna3	UTSW	10	64,323,329 (GRCm39)	missense	probably benign
R7934:Ctnna3	UTSW	10	64,421,747 (GRCm39)	missense	probably damaging	1.00
R8006:Ctnna3	UTSW	10	63,417,790 (GRCm39)	missense	probably benign	0.02
R8272:Ctnna3	UTSW	10	64,838,377 (GRCm39)	missense	probably damaging	1.00
R8415:Ctnna3	UTSW	10	63,339,909 (GRCm39)	missense	probably benign	0.05
R9202:Ctnna3	UTSW	10	64,708,947 (GRCm39)	missense	probably damaging	1.00
Z1088:Ctnna3	UTSW	10	63,417,757 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- AAGCCACATCCTGGAAGATGTCAAC -3'
(R):5'- CCCGTGCTGGCCTAATTATAGCTC -3'

Sequencing Primer
(F):5'- TCCTGGAAGATGTCAACAAATGC -3'
(R):5'- ACTGGGATAAGTTTCCCATCG -3'

Posted On

2013-04-24