Mutagenetix > Incidental Mutations

Incidental Mutation 'R0379:Ctnna2'

30859

Institutional Source

Beutler Lab

Gene Symbol

Ctnna2

Ensembl Gene

ENSMUSG00000063063

Gene Name

catenin (cadherin associated protein), alpha 2

Synonyms

chp, Catna, alpha N-catenin, alpha(N)-catenin, Catna2

MMRRC Submission

038585-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76881637-77979699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77641440 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 180 (T180S)

Ref Sequence

ENSEMBL: ENSMUSP00000123714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000162273]

PDB Structure

Crystal structure of the alphaN-catenin actin-binding domain [X-RAY DIFFRACTION]
Structural and thermodynamic characterization of cadherin-beta-catenin-alpha-catenin complex formation [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000075340
AA Change: T167S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: T167S

Domain	Start	End	E-Value	Type
Pfam:Vinculin	18	337	2e-104	PFAM
Pfam:Vinculin	331	866	7.7e-222	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159626
AA Change: T167S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: T167S

Domain	Start	End	E-Value	Type
Pfam:Vinculin	18	337	3.4e-105	PFAM
Pfam:Vinculin	330	914	6.6e-214	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160894
AA Change: T180S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: T180S

Domain	Start	End	E-Value	Type
Pfam:Vinculin	31	352	2.1e-104	PFAM
Pfam:Vinculin	343	927	4.6e-213	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161846
AA Change: T180S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: T180S

Domain	Start	End	E-Value	Type
Pfam:Vinculin	31	350	5.3e-105	PFAM
Pfam:Vinculin	344	879	2.1e-222	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162273
AA Change: T167S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: T167S

Domain	Start	End	E-Value	Type
Pfam:Vinculin	18	356	1.8e-106	PFAM

Meta Mutation Damage Score

0.0677

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

MGI Phenotype

PHENOTYPE: Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,785,546		probably benign	Het
4930512M02Rik	A	G	11: 11,589,365		probably benign	Het
Apba1	A	C	19: 23,934,830	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,860,400		probably null	Het
Arsb	T	C	13: 93,940,627	S501P	probably benign	Het
Atp10b	A	G	11: 43,254,314	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,736	I126T	possibly damaging	Het
Brd9	T	C	13: 73,942,683		probably benign	Het
Cd93	T	C	2: 148,441,510		probably benign	Het
Chd5	A	G	4: 152,383,321	K1692R	probably benign	Het
Clcn4	T	C	7: 7,296,792	T13A	probably damaging	Het
Clec14a	A	G	12: 58,268,794	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,718,440	V97A	probably benign	Het
Col24a1	G	A	3: 145,524,142	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226	V82D	probably damaging	Het
Cybrd1	T	C	2: 71,129,755	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,621,474	V468M	probably damaging	Het
Dlk1	A	G	12: 109,455,059		probably benign	Het
Dnah7b	A	T	1: 46,140,176	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,668,250	E376A	possibly damaging	Het
Etl4	T	A	2: 20,807,354	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106	T238A	probably benign	Het
Fer1l6	A	G	15: 58,548,338	I33M	probably benign	Het
Fndc3a	A	G	14: 72,556,609	S830P	probably damaging	Het
Fras1	C	T	5: 96,755,509	R3082*	probably null	Het
Galnt13	T	C	2: 55,060,492	V395A	possibly damaging	Het
Gm10334	T	G	6: 41,445,256		probably benign	Het
Gpd2	C	T	2: 57,345,263	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,459,002		probably null	Het
Hydin	A	G	8: 110,509,127		probably benign	Het
Ints5	G	T	19: 8,897,133	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,670	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,479	A67T	probably benign	Het
Lrp1	T	G	10: 127,594,969	T404P	probably damaging	Het
March7	T	C	2: 60,234,126	S249P	probably benign	Het
Mcm10	T	A	2: 5,008,623	K66M	probably benign	Het
Mtmr7	C	A	8: 40,551,601	D645Y	probably damaging	Het
Muc6	T	A	7: 141,636,955	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,369,295		probably benign	Het
Myo18a	G	A	11: 77,850,806	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,443,075	L957S	probably damaging	Het
Ncoa3	T	C	2: 166,054,502	S442P	probably damaging	Het
Olfr1093	G	A	2: 86,785,735	E2K	probably benign	Het
Olfr850	T	A	9: 19,477,480	T257S	possibly damaging	Het
Olfr986	G	A	9: 40,187,433	G106D	probably damaging	Het
Pdcd6	G	T	13: 74,309,712	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 109,027,742		probably benign	Het
Pfkm	A	G	15: 98,126,314	H401R	probably benign	Het
Phldb2	C	A	16: 45,781,451	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,863,114	M49K	probably damaging	Het
Polrmt	A	G	10: 79,737,611	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 34,985,078	N64S	probably benign	Het
Psg16	T	C	7: 17,130,658	S393P	probably benign	Het
Rundc1	C	T	11: 101,425,147	T15I	probably benign	Het
Scaf11	A	G	15: 96,431,816	L143S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpinf1	T	G	11: 75,413,945	I197L	probably benign	Het
Siglec1	C	T	2: 131,074,525		probably benign	Het
Slc28a1	G	A	7: 81,138,177	V271I	probably benign	Het
Sntg1	T	C	1: 8,782,824	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,359,736		probably benign	Het
Suclg1	T	C	6: 73,256,228	I51T	possibly damaging	Het
Syne1	C	T	10: 5,541,989	R9Q	probably damaging	Het
Trim47	T	A	11: 116,106,518	H470L	probably damaging	Het
Ttc41	T	A	10: 86,712,977	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 140,032,192	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,641,116	T474M	probably damaging	Het
Ubr5	A	T	15: 38,018,957	N777K	probably benign	Het
Ush2a	T	C	1: 188,451,819	L1440P	probably damaging	Het
Usp28	A	C	9: 49,024,067	D458A	possibly damaging	Het
Vcan	A	T	13: 89,703,546	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,756,846	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,286,478	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,728,139	I549N	probably damaging	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zfp516	A	T	18: 82,987,670	K900*	probably null	Het
Zfp974	T	A	7: 27,910,932	N456I	probably damaging	Het

Other mutations in Ctnna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ctnna2	APN	6	76980761	missense	probably damaging	1.00
IGL00573:Ctnna2	APN	6	76902281	intron	probably benign
IGL01290:Ctnna2	APN	6	76882560	missense	possibly damaging	0.89
IGL01719:Ctnna2	APN	6	77636975	nonsense	probably null
IGL01725:Ctnna2	APN	6	77641365	missense	possibly damaging	0.89
IGL02381:Ctnna2	APN	6	76954783	missense	probably benign	0.27
IGL02561:Ctnna2	APN	6	77845580	missense	probably benign	0.34
IGL02653:Ctnna2	APN	6	76980777	missense	probably benign	0.00
IGL02658:Ctnna2	APN	6	76980824	missense	probably benign	0.00
IGL02721:Ctnna2	APN	6	76981869	missense	probably damaging	0.99
IGL03075:Ctnna2	APN	6	76954730	missense	probably benign	0.14
IGL03291:Ctnna2	APN	6	76973712	missense	probably damaging	1.00
R0423:Ctnna2	UTSW	6	77653069	missense	probably damaging	1.00
R0539:Ctnna2	UTSW	6	76973899	missense	probably damaging	1.00
R0540:Ctnna2	UTSW	6	76902430	missense	probably benign	0.00
R0545:Ctnna2	UTSW	6	77605182	missense	probably damaging	1.00
R0559:Ctnna2	UTSW	6	76915850	missense	probably damaging	1.00
R0582:Ctnna2	UTSW	6	77758417	missense	probably benign	0.07
R0607:Ctnna2	UTSW	6	76902430	missense	probably benign	0.00
R1318:Ctnna2	UTSW	6	76882790	missense	probably damaging	1.00
R1754:Ctnna2	UTSW	6	77636749	missense	possibly damaging	0.61
R1838:Ctnna2	UTSW	6	77845542	missense	probably damaging	0.99
R1924:Ctnna2	UTSW	6	76954847	missense	possibly damaging	0.75
R1969:Ctnna2	UTSW	6	77758500	missense	probably damaging	0.99
R2011:Ctnna2	UTSW	6	76973791	missense	possibly damaging	0.47
R2867:Ctnna2	UTSW	6	77114922	splice site	probably benign
R3103:Ctnna2	UTSW	6	77653144	missense	possibly damaging	0.66
R3772:Ctnna2	UTSW	6	76973769	missense	probably damaging	0.99
R3809:Ctnna2	UTSW	6	76954757	missense	probably damaging	0.99
R4023:Ctnna2	UTSW	6	77636844	missense	possibly damaging	0.90
R4024:Ctnna2	UTSW	6	77636844	missense	possibly damaging	0.90
R4025:Ctnna2	UTSW	6	77636844	missense	possibly damaging	0.90
R4026:Ctnna2	UTSW	6	77636844	missense	possibly damaging	0.90
R4288:Ctnna2	UTSW	6	77605221	missense	probably damaging	0.96
R4291:Ctnna2	UTSW	6	76882745	missense	probably damaging	1.00
R4493:Ctnna2	UTSW	6	76981848	missense	probably damaging	0.99
R4561:Ctnna2	UTSW	6	77636713	critical splice donor site	probably null
R4824:Ctnna2	UTSW	6	76980781	missense	probably damaging	1.00
R4960:Ctnna2	UTSW	6	77653111	missense	probably damaging	1.00
R4999:Ctnna2	UTSW	6	76915762	missense	possibly damaging	0.86
R5041:Ctnna2	UTSW	6	76915763	missense	probably damaging	1.00
R5093:Ctnna2	UTSW	6	77114929	critical splice donor site	probably null
R5411:Ctnna2	UTSW	6	77114931	missense	probably damaging	1.00
R5847:Ctnna2	UTSW	6	76973837	missense	possibly damaging	0.87
R5874:Ctnna2	UTSW	6	76902430	missense	probably benign	0.00
R5935:Ctnna2	UTSW	6	77143921	missense	probably benign	0.01
R6008:Ctnna2	UTSW	6	76915828	missense	probably damaging	1.00
R6115:Ctnna2	UTSW	6	77636839	missense	probably benign	0.10
R6369:Ctnna2	UTSW	6	76980695	missense	possibly damaging	0.88
R6490:Ctnna2	UTSW	6	77143909	missense	probably benign
R7021:Ctnna2	UTSW	6	77636905	missense	probably damaging	1.00
R7152:Ctnna2	UTSW	6	76980824	missense	possibly damaging	0.48
R7662:Ctnna2	UTSW	6	77636869	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTTCATGCAAGTGTGGTGAGAC -3'
(R):5'- ACAAAGCTTGGATGCTCTACAGCAG -3'

Sequencing Primer
(F):5'- CTCATCAGTGAAAAGTGGTGCTC -3'
(R):5'- GGATGCTCTACAGCAGTCTCTG -3'

Posted On

2013-04-24