Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01725:Ctnna2'

105243

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL01725

Quality Score

Status

Chromosome

Chromosomal Location

76858620-77956682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77618348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 205 (R205G)

Ref Sequence

ENSEMBL: ENSMUSP00000124764 (fasta)

Gene Model

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

AlphaFold

Q61301

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075340
AA Change: R192G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: R192G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159626
AA Change: R192G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: R192G

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: R205G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: R205G

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: R205G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: R205G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162273
AA Change: R192G

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: R192G

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

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,767 (GRCm39)	I297F	probably damaging	Het
Abcc4	A	T	14: 118,738,241 (GRCm39)	L1170I	probably damaging	Het
Ankhd1	A	G	18: 36,781,206 (GRCm39)	D2086G	probably benign	Het
Arhgap11a	A	T	2: 113,667,897 (GRCm39)	V368D	probably damaging	Het
Ccdc138	A	G	10: 58,364,745 (GRCm39)	T334A	possibly damaging	Het
Galnt4	A	G	10: 98,945,819 (GRCm39)	M515V	probably damaging	Het
Grhl1	T	C	12: 24,659,747 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,245 (GRCm39)	T145A	probably benign	Het
Kntc1	G	A	5: 123,902,253 (GRCm39)	V299I	probably benign	Het
Lin28a	G	A	4: 133,735,241 (GRCm39)	R52*	probably null	Het
Mast4	A	T	13: 102,887,020 (GRCm39)		probably null	Het
Nme4	G	A	17: 26,311,040 (GRCm39)	A175V	probably benign	Het
Or1e1c	A	T	11: 73,265,982 (GRCm39)	M136L	probably benign	Het
Or51ah3	T	A	7: 103,210,282 (GRCm39)	Y199*	probably null	Het
Pi16	T	A	17: 29,545,294 (GRCm39)	S186T	probably damaging	Het
Pigc	T	A	1: 161,798,914 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,005,218 (GRCm39)	I222L	probably benign	Het
Scap	T	A	9: 110,210,622 (GRCm39)		probably benign	Het
Sec24a	A	C	11: 51,614,405 (GRCm39)		probably null	Het
Sh3tc1	T	C	5: 35,857,660 (GRCm39)	E1176G	probably benign	Het
Sidt1	A	T	16: 44,104,645 (GRCm39)	D255E	probably benign	Het
Slc16a9	T	C	10: 70,119,815 (GRCm39)	M486T	probably benign	Het
Slc28a3	A	G	13: 58,726,324 (GRCm39)	F155S	probably benign	Het
Slc5a4a	T	C	10: 76,017,508 (GRCm39)	V435A	probably benign	Het
Stxbp5	T	C	10: 9,693,155 (GRCm39)	R324G	probably damaging	Het
Tas2r120	C	T	6: 132,634,052 (GRCm39)	R45*	probably null	Het
Tfcp2l1	T	C	1: 118,596,366 (GRCm39)	V367A	possibly damaging	Het
Vmn2r116	A	T	17: 23,605,619 (GRCm39)	D177V	probably damaging	Het
Vmn2r70	A	G	7: 85,208,594 (GRCm39)	S628P	probably damaging	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
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
R1318:Ctnna2	UTSW	6	76,859,773 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-21