Mutagenetix > Incidental Mutation

Incidental Mutation 'R1318:Ctnna2'

157600

Institutional Source

Beutler Lab

Gene Symbol

Ctnna2

Ensembl Gene

ENSMUSG00000063063

Gene Name

catenin alpha 2

Synonyms

Catna, catenin (cadherin associated protein), alpha 2, chp, Catna2, alpha N-catenin, alpha(N)-catenin

MMRRC Submission

039384-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R1318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76858620-77956682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76859773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 874 (N874K)

Ref Sequence

ENSEMBL: ENSMUSP00000124376 (fasta)

Gene Model

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

AlphaFold

Q61301

Predicted Effect

probably damaging
Transcript: ENSMUST00000075340
AA Change: N826K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: N826K

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: N874K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: N874K

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 damaging
Transcript: ENSMUST00000160894
AA Change: N887K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: N887K

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: N839K

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

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: N839K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162991

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.9%
20x: 82.6%

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	T	5: 8,751,621 (GRCm39)	V334L	probably benign	Het
Alms1	T	G	6: 85,605,531 (GRCm39)	S1925A	possibly damaging	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Comt	G	T	16: 18,226,641 (GRCm39)	D248E	probably damaging	Het
Dnah7b	C	T	1: 46,138,669 (GRCm39)	P237L	possibly damaging	Het
Galnt4	T	G	10: 98,945,772 (GRCm39)	V499G	probably damaging	Het
Gh	T	C	11: 106,191,923 (GRCm39)	T96A	probably benign	Het
Gng8	T	C	7: 16,629,161 (GRCm39)	V29A	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Igdcc4	T	C	9: 65,040,972 (GRCm39)	L1001P	probably damaging	Het
Jph1	A	C	1: 17,067,714 (GRCm39)	F658V	probably damaging	Het
Kcnj3	A	T	2: 55,327,750 (GRCm39)	M180L	possibly damaging	Het
Ldb2	C	T	5: 44,692,379 (GRCm39)		probably null	Het
Mettl2	C	A	11: 105,028,597 (GRCm39)	Y316*	probably null	Het
Mug2	G	A	6: 122,054,361 (GRCm39)	V1047M	probably damaging	Het
Mxra8	G	T	4: 155,925,956 (GRCm39)	C140F	probably damaging	Het
Mylip	T	C	13: 45,559,401 (GRCm39)	I101T	probably benign	Het
Oasl2	A	G	5: 115,039,442 (GRCm39)	N210S	probably benign	Het
Pclo	A	G	5: 14,729,328 (GRCm39)		probably benign	Het
Plaat3	T	A	19: 7,556,591 (GRCm39)		probably null	Het
Rims2	G	A	15: 39,381,222 (GRCm39)	R1051H	probably damaging	Het
Rnf4	C	A	5: 34,508,590 (GRCm39)	R151S	probably damaging	Het
Serpina11	A	T	12: 103,952,777 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Ttn	T	C	2: 76,706,164 (GRCm39)		probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zranb1	C	A	7: 132,568,281 (GRCm39)	S313*	probably null	Het

Other mutations in Ctnna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ctnna2	APN	6	76,957,744 (GRCm39)	missense	probably damaging	1.00
IGL00573:Ctnna2	APN	6	76,879,264 (GRCm39)	intron	probably benign
IGL01290:Ctnna2	APN	6	76,859,543 (GRCm39)	missense	possibly damaging	0.89
IGL01719:Ctnna2	APN	6	77,613,958 (GRCm39)	nonsense	probably null
IGL01725:Ctnna2	APN	6	77,618,348 (GRCm39)	missense	possibly damaging	0.89
IGL02381:Ctnna2	APN	6	76,931,766 (GRCm39)	missense	probably benign	0.27
IGL02561:Ctnna2	APN	6	77,822,563 (GRCm39)	missense	probably benign	0.34
IGL02653:Ctnna2	APN	6	76,957,760 (GRCm39)	missense	probably benign	0.00
IGL02658:Ctnna2	APN	6	76,957,807 (GRCm39)	missense	probably benign	0.00
IGL02721:Ctnna2	APN	6	76,958,852 (GRCm39)	missense	probably damaging	0.99
IGL03075:Ctnna2	APN	6	76,931,713 (GRCm39)	missense	probably benign	0.14
IGL03291:Ctnna2	APN	6	76,950,695 (GRCm39)	missense	probably damaging	1.00
R0379:Ctnna2	UTSW	6	77,618,423 (GRCm39)	missense	probably benign	0.01
R0423:Ctnna2	UTSW	6	77,630,052 (GRCm39)	missense	probably damaging	1.00
R0539:Ctnna2	UTSW	6	76,950,882 (GRCm39)	missense	probably damaging	1.00
R0540:Ctnna2	UTSW	6	76,879,413 (GRCm39)	missense	probably benign	0.00
R0545:Ctnna2	UTSW	6	77,582,165 (GRCm39)	missense	probably damaging	1.00
R0559:Ctnna2	UTSW	6	76,892,833 (GRCm39)	missense	probably damaging	1.00
R0582:Ctnna2	UTSW	6	77,735,400 (GRCm39)	missense	probably benign	0.07
R0607:Ctnna2	UTSW	6	76,879,413 (GRCm39)	missense	probably benign	0.00
R1754:Ctnna2	UTSW	6	77,613,732 (GRCm39)	missense	possibly damaging	0.61
R1838:Ctnna2	UTSW	6	77,822,525 (GRCm39)	missense	probably damaging	0.99
R1924:Ctnna2	UTSW	6	76,931,830 (GRCm39)	missense	possibly damaging	0.75
R1969:Ctnna2	UTSW	6	77,735,483 (GRCm39)	missense	probably damaging	0.99
R2011:Ctnna2	UTSW	6	76,950,774 (GRCm39)	missense	possibly damaging	0.47
R2867:Ctnna2	UTSW	6	77,091,905 (GRCm39)	splice site	probably benign
R3103:Ctnna2	UTSW	6	77,630,127 (GRCm39)	missense	possibly damaging	0.66
R3772:Ctnna2	UTSW	6	76,950,752 (GRCm39)	missense	probably damaging	0.99
R3809:Ctnna2	UTSW	6	76,931,740 (GRCm39)	missense	probably damaging	0.99
R4023:Ctnna2	UTSW	6	77,613,827 (GRCm39)	missense	possibly damaging	0.90
R4024:Ctnna2	UTSW	6	77,613,827 (GRCm39)	missense	possibly damaging	0.90
R4025:Ctnna2	UTSW	6	77,613,827 (GRCm39)	missense	possibly damaging	0.90
R4026:Ctnna2	UTSW	6	77,613,827 (GRCm39)	missense	possibly damaging	0.90
R4288:Ctnna2	UTSW	6	77,582,204 (GRCm39)	missense	probably damaging	0.96
R4291:Ctnna2	UTSW	6	76,859,728 (GRCm39)	missense	probably damaging	1.00
R4493:Ctnna2	UTSW	6	76,958,831 (GRCm39)	missense	probably damaging	0.99
R4561:Ctnna2	UTSW	6	77,613,696 (GRCm39)	critical splice donor site	probably null
R4824:Ctnna2	UTSW	6	76,957,764 (GRCm39)	missense	probably damaging	1.00
R4960:Ctnna2	UTSW	6	77,630,094 (GRCm39)	missense	probably damaging	1.00
R4999:Ctnna2	UTSW	6	76,892,745 (GRCm39)	missense	possibly damaging	0.86
R5041:Ctnna2	UTSW	6	76,892,746 (GRCm39)	missense	probably damaging	1.00
R5093:Ctnna2	UTSW	6	77,091,912 (GRCm39)	critical splice donor site	probably null
R5411:Ctnna2	UTSW	6	77,091,914 (GRCm39)	missense	probably damaging	1.00
R5847:Ctnna2	UTSW	6	76,950,820 (GRCm39)	missense	possibly damaging	0.87
R5874:Ctnna2	UTSW	6	76,879,413 (GRCm39)	missense	probably benign	0.00
R5935:Ctnna2	UTSW	6	77,120,904 (GRCm39)	missense	probably benign	0.01
R6008:Ctnna2	UTSW	6	76,892,811 (GRCm39)	missense	probably damaging	1.00
R6115:Ctnna2	UTSW	6	77,613,822 (GRCm39)	missense	probably benign	0.10
R6369:Ctnna2	UTSW	6	76,957,678 (GRCm39)	missense	possibly damaging	0.88
R6490:Ctnna2	UTSW	6	77,120,892 (GRCm39)	missense	probably benign
R7021:Ctnna2	UTSW	6	77,613,888 (GRCm39)	missense	probably damaging	1.00
R7152:Ctnna2	UTSW	6	76,957,807 (GRCm39)	missense	possibly damaging	0.48
R7662:Ctnna2	UTSW	6	77,613,852 (GRCm39)	missense	probably damaging	1.00
R7804:Ctnna2	UTSW	6	77,618,357 (GRCm39)	missense	probably benign	0.00
R7935:Ctnna2	UTSW	6	76,919,270 (GRCm39)	missense	probably damaging	1.00
R8479:Ctnna2	UTSW	6	77,735,573 (GRCm39)	missense	probably damaging	1.00
R8698:Ctnna2	UTSW	6	77,630,100 (GRCm39)	missense	probably benign	0.00
R8829:Ctnna2	UTSW	6	77,582,205 (GRCm39)	nonsense	probably null
R9054:Ctnna2	UTSW	6	76,919,249 (GRCm39)	missense	probably benign	0.38
R9142:Ctnna2	UTSW	6	76,879,423 (GRCm39)	intron	probably benign
R9173:Ctnna2	UTSW	6	76,896,939 (GRCm39)	missense	probably damaging	1.00
R9776:Ctnna2	UTSW	6	77,582,172 (GRCm39)	missense	probably benign	0.02
Z1177:Ctnna2	UTSW	6	77,618,400 (GRCm39)	missense	probably benign	0.01
Z1177:Ctnna2	UTSW	6	76,957,723 (GRCm39)	missense	probably damaging	1.00
Z1177:Ctnna2	UTSW	6	76,950,764 (GRCm39)	missense	possibly damaging	0.94
Z1177:Ctnna2	UTSW	6	77,735,537 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AATTTCCCCATGCCAGAGGCAGAC -3'
(R):5'- TGTGTGGCAACACTAGCAGAAGC -3'

Sequencing Primer
(F):5'- CCTAGAAGGAATCCATTGCCTTG -3'
(R):5'- GAAGCACAACACTGCTTGATG -3'

Posted On

2014-02-18