Mutagenetix > Incidental Mutations

Incidental Mutation 'R7804:Ctnna2'

600663

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R7804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76881637-77979699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77641374 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 202 (V202I)

Ref Sequence

ENSEMBL: ENSMUSP00000124764 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075340
AA Change: V189I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: V189I

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: V189I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: V189I

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: V202I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: V202I

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: V202I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: V202I

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: V189I

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

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: V189I

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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (55/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTATGTGT	GTGTGT	11: 43,587,414		probably benign	Het
Ago4	A	T	4: 126,512,630	C296S	probably benign	Het
Apbb1	A	G	7: 105,566,600	L401P	probably damaging	Het
Cacnb2	C	A	2: 14,968,037	P252T	probably benign	Het
Dapk1	A	T	13: 60,725,339	I352F	probably benign	Het
Dexi	T	C	16: 10,542,485	D69G	possibly damaging	Het
Dgcr14	T	A	16: 17,911,167	I47F	probably damaging	Het
Dlg5	T	C	14: 24,165,320	E645G	possibly damaging	Het
Dnah3	A	G	7: 119,952,618	I2826T	probably damaging	Het
Dnah3	A	G	7: 120,011,012	W1734R	probably damaging	Het
Dtna	A	G	18: 23,595,609	K287R	probably damaging	Het
Elovl5	A	G	9: 77,979,823		probably null	Het
Fam222b	C	A	11: 78,154,153	P180Q	probably benign	Het
Fat3	C	T	9: 15,990,592	V3046I	probably benign	Het
Fem1a	A	G	17: 56,258,068	D387G	probably damaging	Het
Frmd5	A	G	2: 121,591,744	Y33H	probably damaging	Het
Gucy2g	A	T	19: 55,228,152	L464H	probably benign	Het
Ints2	T	C	11: 86,212,663	E1189G	possibly damaging	Het
Itgb4	T	C	11: 116,003,684	V1355A	probably damaging	Het
Lepr	A	T	4: 101,782,586	S750C	probably damaging	Het
Lingo1	T	C	9: 56,619,514	D603G	probably benign	Het
Map4k3	A	C	17: 80,615,070	V474G	probably damaging	Het
Myl4	T	A	11: 104,584,961	V167E	probably damaging	Het
Naa25	T	C	5: 121,424,589	V478A	probably benign	Het
Neurl4	T	A	11: 69,905,874	L487H	probably benign	Het
Nkx2-9	C	T	12: 56,612,132	R99H	probably damaging	Het
Olfr1215	C	G	2: 89,001,511	R259P	unknown	Het
Olfr686	A	T	7: 105,204,160	M61K	probably damaging	Het
Olfr809	A	G	10: 129,776,222	I103V	probably benign	Het
Pcdhga9	A	G	18: 37,738,079	I320M	probably damaging	Het
Pi15	T	A	1: 17,624,913	C251*	probably null	Het
Pkhd1l1	A	T	15: 44,597,138	K4248*	probably null	Het
Prkg1	C	T	19: 30,578,632	V625I	probably benign	Het
Prkg1	G	A	19: 30,624,770	A362V	possibly damaging	Het
Prol1	C	T	5: 88,328,405	T218I	unknown	Het
Ptpro	G	A	6: 137,399,601		probably null	Het
Rev3l	T	A	10: 39,823,485	I1326K	probably benign	Het
Shank1	C	A	7: 44,312,884	R60S	unknown	Het
Slc24a2	A	G	4: 86,991,537	V648A	probably damaging	Het
Slc35d3	T	C	10: 19,849,370	T247A	probably damaging	Het
Specc1	C	T	11: 62,205,397	T895I	probably damaging	Het
Spta1	A	G	1: 174,195,905	E626G	possibly damaging	Het
Syngr2	C	A	11: 117,812,575	S72R	possibly damaging	Het
Synj2	T	A	17: 6,019,534	L490Q	unknown	Het
Tbc1d9	T	C	8: 83,236,712	L351P	possibly damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Themis3	G	A	17: 66,555,610	T451I	probably benign	Het
Tia1	T	C	6: 86,424,382	S146P	probably benign	Het
Tpp2	T	A	1: 43,983,281	N946K	probably benign	Het
Tpr	A	T	1: 150,432,559	R1688S	probably damaging	Het
Trav12-1	A	G	14: 53,538,531	Q47R	possibly damaging	Het
Ttll9	G	A	2: 153,002,358		probably null	Het
Ttn	G	A	2: 76,707,241	T34781M	possibly damaging	Het
V1ra8	A	G	6: 90,203,316	Y167C	probably damaging	Het
Vegfb	T	C	19: 6,986,339	D84G	probably damaging	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wdr26	A	G	1: 181,182,822	I554T	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
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
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
R7935:Ctnna2	UTSW	6	76942287	missense	probably damaging	1.00
R8479:Ctnna2	UTSW	6	77758590	missense	probably damaging	1.00
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'- CAGTGAAAAGTGGTGCTCTGTG -3'
(R):5'- AAGATACCATTGGTAGCATGCTC -3'

Sequencing Primer
(F):5'- GCTCTGTGATCTATAGGCAGCAAC -3'
(R):5'- TCTATTTCAGGTCGAGGAG -3'

Posted On

2019-11-26