Mutagenetix > Incidental Mutation

Incidental Mutation 'R0582:Ctnna2'

56463

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

038772-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R0582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76881637-77979699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77758417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 106 (V106L)

Ref Sequence

ENSEMBL: ENSMUSP00000124764 (fasta)

Gene Model

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

AlphaFold

Q61301

Predicted Effect

probably benign
Transcript: ENSMUST00000075340
AA Change: V93L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: V93L

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: V93L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: V93L

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: V106L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: V106L

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: V106L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: V106L

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: V93L

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

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: V93L

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

Meta Mutation Damage Score

0.1186

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

100% (45/45)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,125,082		noncoding transcript	Het
Abcb5	A	T	12: 118,940,412	M186K	probably benign	Het
Afm	T	C	5: 90,524,780		probably benign	Het
Arfgef3	G	A	10: 18,611,290	A1332V	probably damaging	Het
Atp11a	T	C	8: 12,831,214	S451P	probably benign	Het
Birc6	T	A	17: 74,643,337	V3189E	probably damaging	Het
Ccdc150	C	T	1: 54,329,511	A626V	probably benign	Het
Ccdc50	G	A	16: 27,444,659		probably benign	Het
Cntln	T	C	4: 84,884,741	S93P	probably damaging	Het
Ctnnal1	G	C	4: 56,813,228	Q668E	probably damaging	Het
Cyp1a2	G	A	9: 57,680,246		probably benign	Het
Dnah8	A	G	17: 30,718,961	D1604G	probably benign	Het
Dscaml1	A	T	9: 45,668,264	I370F	possibly damaging	Het
Ears2	T	C	7: 122,055,658	E129G	probably benign	Het
Gm4981	A	T	10: 58,235,686	S235R	probably benign	Het
Igsf10	T	C	3: 59,319,767	I2162V	probably benign	Het
Ints9	C	T	14: 64,980,149	P42S	probably damaging	Het
Ipp	T	C	4: 116,515,467	L231S	probably damaging	Het
Lyn	T	A	4: 3,743,296	L72Q	probably damaging	Het
Nfe2l2	T	A	2: 75,676,768	E329D	probably damaging	Het
Olfr628	G	A	7: 103,732,673	C249Y	possibly damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pdyn	A	C	2: 129,689,738	L44R	probably damaging	Het
Pkd1l1	A	G	11: 8,931,699		probably benign	Het
Prpf40a	A	T	2: 53,145,692	F695L	probably damaging	Het
Rnf217	A	G	10: 31,608,767	Y140H	possibly damaging	Het
Sema6c	C	T	3: 95,169,197	R265C	probably damaging	Het
Slc7a8	C	A	14: 54,758,444	C167F	probably damaging	Het
Snap47	A	T	11: 59,428,433	L293*	probably null	Het
Snx3	A	T	10: 42,533,280		probably benign	Het
Sycp2l	T	A	13: 41,137,955		probably benign	Het
Taar3	A	G	10: 23,949,817	Y87C	probably damaging	Het
Tm4sf4	T	C	3: 57,433,857		probably benign	Het
Tssc4	T	C	7: 143,070,509	S185P	probably damaging	Het
Ttc28	G	T	5: 111,183,296	A430S	probably damaging	Het
Vmn2r27	T	C	6: 124,224,290	D236G	probably benign	Het
Vps54	G	T	11: 21,300,137	D508Y	probably damaging	Het
Wdr53	G	A	16: 32,251,908	V24M	probably damaging	Het
Xirp2	T	G	2: 67,508,866	L484V	probably benign	Het
Zfyve26	T	C	12: 79,246,222	D2051G	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
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'- TGGGGCCATTTGCTCTTCACAG -3'
(R):5'- ACAAGCAACAAAGGTCCGTCTGG -3'

Sequencing Primer
(F):5'- CAAAAGTGGGCTCTTTGAACC -3'
(R):5'- CAAAGGTCCGTCTGGTAAAAAG -3'

Posted On

2013-07-11