Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01719:Ctnna2'

105039

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 #

IGL01719

Quality Score

Status

Chromosome

Chromosomal Location

76858620-77956682 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 77613958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 198 (K198*)

Ref Sequence

ENSEMBL: ENSMUSP00000124689 (fasta)

Gene Model

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

AlphaFold

Q61301

Predicted Effect

probably null
Transcript: ENSMUST00000075340
AA Change: K198*

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: K198*

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

Predicted Effect

probably null
Transcript: ENSMUST00000159626
AA Change: K198*

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: K198*

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 null
Transcript: ENSMUST00000160894
AA Change: K211*

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: K211*

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 null
Transcript: ENSMUST00000161846
AA Change: K211*

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: K211*

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 null
Transcript: ENSMUST00000162273
AA Change: K198*

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: K198*

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
Ankk1	A	G	9: 49,328,081 (GRCm39)	V366A	probably benign	Het
Antxr2	C	T	5: 98,096,132 (GRCm39)	R384Q	possibly damaging	Het
Cdh13	G	A	8: 119,401,927 (GRCm39)	V110M	probably benign	Het
Dpf3	C	A	12: 83,341,207 (GRCm39)	S223I	probably damaging	Het
Galnt5	A	G	2: 57,888,555 (GRCm39)	R52G	probably damaging	Het
Gm4787	G	A	12: 81,423,948 (GRCm39)	R737C	possibly damaging	Het
Grin2b	T	A	6: 135,710,379 (GRCm39)	I1056F	probably damaging	Het
H2al2a	T	A	2: 18,001,446 (GRCm39)	H80L	probably damaging	Het
Hipk3	T	C	2: 104,267,434 (GRCm39)	H601R	possibly damaging	Het
Hivep2	T	C	10: 14,006,267 (GRCm39)	L955P	probably damaging	Het
Jund	C	T	8: 71,151,885 (GRCm39)	A60V	possibly damaging	Het
Klhdc7a	A	G	4: 139,693,861 (GRCm39)	L362P	probably damaging	Het
Lpar5	T	G	6: 125,058,969 (GRCm39)	V230G	possibly damaging	Het
Lrba	C	T	3: 86,234,903 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,018 (GRCm39)	F14S	possibly damaging	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Plekha5	A	C	6: 140,515,855 (GRCm39)	E702D	probably damaging	Het
Ppt1	A	G	4: 122,737,860 (GRCm39)	Y66C	probably damaging	Het
S1pr5	C	A	9: 21,155,250 (GRCm39)	R392L	probably benign	Het
Slc37a2	T	C	9: 37,145,474 (GRCm39)	T410A	probably damaging	Het
St18	A	G	1: 6,916,020 (GRCm39)		probably benign	Het
Taar7d	T	A	10: 23,903,865 (GRCm39)	M249K	probably benign	Het
Vwa5b2	T	C	16: 20,416,183 (GRCm39)		probably null	Het
Zan	T	A	5: 137,393,916 (GRCm39)	T4512S	unknown	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
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
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