Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Ctnna2'

44754

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

038737-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0545 (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 77605182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 352 (N352I)

Ref Sequence

ENSEMBL: ENSMUSP00000124689 (fasta)

Gene Model

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

AlphaFold

Q61301

Predicted Effect

probably damaging
Transcript: ENSMUST00000075340
AA Change: N352I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: N352I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159626
AA Change: N352I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: N352I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160894
AA Change: N365I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: N365I

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 damaging
Transcript: ENSMUST00000161846
AA Change: N365I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: N365I

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 damaging
Transcript: ENSMUST00000162273
AA Change: N352I

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

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: N352I

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

Meta Mutation Damage Score

0.2692

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	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
R0379:Ctnna2	UTSW	6	77641440	missense	probably benign	0.01
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
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
R7804:Ctnna2	UTSW	6	77641374	missense	probably benign	0.00
R7935:Ctnna2	UTSW	6	76942287	missense	probably damaging	1.00
R8479:Ctnna2	UTSW	6	77758590	missense	probably damaging	1.00
R8698:Ctnna2	UTSW	6	77653117	missense	probably benign	0.00
R8829:Ctnna2	UTSW	6	77605222	nonsense	probably null
R9054:Ctnna2	UTSW	6	76942266	missense	probably benign	0.38
R9142:Ctnna2	UTSW	6	76902440	intron	probably benign
R9173:Ctnna2	UTSW	6	76919956	missense	probably damaging	1.00
R9776:Ctnna2	UTSW	6	77605189	missense	probably benign	0.02
Z1177:Ctnna2	UTSW	6	76973781	missense	possibly damaging	0.94
Z1177:Ctnna2	UTSW	6	76980740	missense	probably damaging	1.00
Z1177:Ctnna2	UTSW	6	77641417	missense	probably benign	0.01
Z1177:Ctnna2	UTSW	6	77758554	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AAGAGTCAGAGCACAGGTTTCCCC -3'
(R):5'- GCGACAAAGGCGGTGTAACTATTTC -3'

Sequencing Primer
(F):5'- CCAAGTGGTCCTTTGGTGAAAC -3'
(R):5'- acatttatagggagggggaaaaac -3'

Posted On

2013-06-11