Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Ctnna3'

189668

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

039733-MU

Accession Numbers

Essential gene?

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

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63265877-64839446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63688551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 332 (C332R)

Ref Sequence

ENSEMBL: ENSMUSP00000101081 (fasta)

Gene Model

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

AlphaFold

Q65CL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000075099
AA Change: C332R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: C332R

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: C332R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: C332R

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: C332R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: C332R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135474

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,899,537 (GRCm39)	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,143 (GRCm39)	I211N	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alas1	C	T	9: 106,116,845 (GRCm39)	V293I	possibly damaging	Het
Ap1g1	T	C	8: 110,580,244 (GRCm39)	Y569H	probably damaging	Het
Apc2	A	G	10: 80,148,603 (GRCm39)	D1190G	probably damaging	Het
Astn2	G	A	4: 65,664,591 (GRCm39)	Q679*	probably null	Het
Atp2a1	T	A	7: 126,062,081 (GRCm39)	H5L	probably damaging	Het
Baiap3	T	C	17: 25,468,302 (GRCm39)	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,227,909 (GRCm39)	P111S	probably benign	Het
C7	T	A	15: 5,032,274 (GRCm39)	K646*	probably null	Het
Ccp110	C	T	7: 118,334,536 (GRCm39)	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,012,716 (GRCm39)	D123G	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Clip1	A	G	5: 123,768,433 (GRCm39)	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,592,901 (GRCm39)	F174S	probably benign	Het
Cxcl10	A	T	5: 92,495,714 (GRCm39)	N76K	probably damaging	Het
Dnaaf9	G	A	2: 130,551,858 (GRCm39)	L1010F	probably damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Efcab10	A	G	12: 33,445,170 (GRCm39)	T28A	possibly damaging	Het
Esrrg	A	G	1: 187,775,850 (GRCm39)	R103G	probably damaging	Het
Exosc2	A	G	2: 31,560,818 (GRCm39)	K23E	probably benign	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,822,081 (GRCm39)	V5938A	probably benign	Het
Gclc	A	G	9: 77,683,571 (GRCm39)	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gucy2e	A	T	11: 69,122,884 (GRCm39)	M497K	probably benign	Het
Herc1	T	A	9: 66,357,960 (GRCm39)		probably null	Het
Hnrnpll	A	C	17: 80,341,534 (GRCm39)	S502A	probably benign	Het
Ipo11	G	T	13: 106,932,170 (GRCm39)	T975N	probably benign	Het
Kif17	C	T	4: 137,990,009 (GRCm39)	Q66*	probably null	Het
Lrp10	T	C	14: 54,707,209 (GRCm39)	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,230,677 (GRCm39)	L75Q	probably damaging	Het
Med16	A	T	10: 79,735,169 (GRCm39)	Y430N	probably benign	Het
Med8	C	T	4: 118,269,931 (GRCm39)	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,443,682 (GRCm39)	T253A	probably damaging	Het
Myf6	T	C	10: 107,329,220 (GRCm39)	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,587 (GRCm39)	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,035,855 (GRCm39)	Y48N	probably damaging	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or51q1c	T	A	7: 103,653,329 (GRCm39)	Y282*	probably null	Het
Or5as1	T	G	2: 86,980,123 (GRCm39)	N294T	probably damaging	Het
Pde4dip	T	C	3: 97,610,639 (GRCm39)	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,618,651 (GRCm39)	L2P	probably damaging	Het
Piezo1	C	T	8: 123,214,241 (GRCm39)	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,333,990 (GRCm39)	M213K	probably damaging	Het
Polr1b	A	G	2: 128,965,041 (GRCm39)	N709S	probably damaging	Het
Pramel1	T	A	4: 143,124,999 (GRCm39)	W308R	probably damaging	Het
Prkag2	A	T	5: 25,076,539 (GRCm39)	I208N	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864 (GRCm39)	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,392,494 (GRCm39)	*345Q	probably null	Het
Rrp1b	A	G	17: 32,276,178 (GRCm39)	K575R	probably benign	Het
Shd	G	A	17: 56,281,307 (GRCm39)	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,834,296 (GRCm39)	N749K	possibly damaging	Het
Sorbs2	T	A	8: 46,254,021 (GRCm39)	V488D	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Srsf4	C	A	4: 131,627,871 (GRCm39)		probably benign	Het
Strn	T	C	17: 78,999,831 (GRCm39)	Y135C	probably damaging	Het
Synm	T	C	7: 67,409,376 (GRCm39)	M1V	probably null	Het
Tas1r3	T	G	4: 155,946,027 (GRCm39)	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,013,774 (GRCm39)	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,870,755 (GRCm39)	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,268,446 (GRCm39)	E112G	probably damaging	Het
Trappc8	T	C	18: 20,966,055 (GRCm39)	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,279,025 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,434,018 (GRCm39)	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,180,023 (GRCm39)	I56V	possibly damaging	Het
Uri1	T	C	7: 37,662,949 (GRCm39)	I348M	probably damaging	Het
Usp21	C	A	1: 171,111,295 (GRCm39)	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,542,390 (GRCm39)	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,341,900 (GRCm39)	E93G	unknown	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
R0387:Ctnna3	UTSW	10	64,421,909 (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
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'- CTCCCAGAACTTAATTGTCCTGAACCC -3'
(R):5'- TCCCTGACTCTCCGACTGAGATGTAG -3'

Sequencing Primer
(F):5'- TTAATTGTCCTGAACCCACTCACAG -3'
(R):5'- CTCCGACTGAGATGTAGATACTTC -3'

Posted On

2014-05-14