Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Ctnna2'

219450

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

039982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R1969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76858620-77956682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77735483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 65 (E65G)

Ref Sequence

ENSEMBL: ENSMUSP00000124689 (fasta)

Gene Model

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

AlphaFold

Q61301

Predicted Effect

probably damaging
Transcript: ENSMUST00000075340
AA Change: E65G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: E65G

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: E65G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: E65G

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: E78G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: E78G

Domain	Start	End	E-Value	Type
Pfam:Vinculin	31	352	2.1e-104	PFAM
Pfam:Vinculin	343	927	4.6e-213	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161846
AA Change: E78G

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: E78G

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 damaging
Transcript: ENSMUST00000162273
AA Change: E65G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: E65G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,609 (GRCm39)		probably benign	Het
Apoh	G	A	11: 108,298,288 (GRCm39)	R196Q	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
B4galnt4	T	C	7: 140,644,761 (GRCm39)	F194L	probably benign	Het
BC034090	A	T	1: 155,100,972 (GRCm39)	L431M	possibly damaging	Het
Bdh2	G	T	3: 134,994,040 (GRCm39)	A31S	probably damaging	Het
Brd10	C	T	19: 29,694,075 (GRCm39)	S1873N	possibly damaging	Het
Cacna1s	T	C	1: 136,046,833 (GRCm39)	S1821P	probably benign	Het
Caskin1	A	T	17: 24,725,824 (GRCm39)	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdk15	A	T	1: 59,370,110 (GRCm39)	H384L	probably damaging	Het
Col24a1	T	C	3: 145,020,691 (GRCm39)	I354T	probably benign	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Ctsll3	A	T	13: 60,948,162 (GRCm39)	W172R	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,734,890 (GRCm39)	A493T	probably benign	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx4	T	A	13: 112,757,276 (GRCm39)	H348L	probably damaging	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dok7	A	G	5: 35,234,610 (GRCm39)		probably null	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,637,090 (GRCm39)	I988M	probably damaging	Het
Elfn1	G	C	5: 139,958,604 (GRCm39)	R536P	probably damaging	Het
Eml6	A	G	11: 29,783,075 (GRCm39)	V602A	probably benign	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Evi5	A	T	5: 107,896,230 (GRCm39)	F738I	probably benign	Het
Eya2	T	C	2: 165,558,039 (GRCm39)	S212P	probably benign	Het
Fam83a	T	C	15: 57,849,498 (GRCm39)	L14P	probably damaging	Het
Fanca	A	T	8: 124,014,803 (GRCm39)	M735K	probably benign	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fibcd1	G	A	2: 31,706,673 (GRCm39)	T386I	probably damaging	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Fscb	T	C	12: 64,520,008 (GRCm39)	E486G	unknown	Het
Galnt17	A	G	5: 131,179,782 (GRCm39)	S122P	probably benign	Het
Ghitm	A	G	14: 36,853,586 (GRCm39)	F85L	probably benign	Het
Ghrh	C	A	2: 157,175,386 (GRCm39)	V32L	probably benign	Het
Gli2	C	T	1: 118,765,430 (GRCm39)	R907H	probably benign	Het
Gm28042	A	G	2: 119,872,096 (GRCm39)	*1015W	probably null	Het
Gpr179	T	C	11: 97,228,784 (GRCm39)	T1124A	probably benign	Het
Grid2	C	A	6: 63,885,902 (GRCm39)	C99*	probably null	Het
Grin1	A	T	2: 25,187,927 (GRCm39)	M523K	probably benign	Het
Gucy2g	T	C	19: 55,211,328 (GRCm39)	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,221,485 (GRCm39)	T339P	probably benign	Het
Haus6	A	T	4: 86,522,483 (GRCm39)	L116H	probably damaging	Het
Hey1	T	C	3: 8,731,879 (GRCm39)	T18A	probably benign	Het
Hipk3	T	C	2: 104,264,186 (GRCm39)	N792D	probably damaging	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Il21r	A	G	7: 125,228,144 (GRCm39)	Q205R	probably damaging	Het
Kcnip2	T	C	19: 45,782,122 (GRCm39)	D169G	probably null	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lrba	A	G	3: 86,515,696 (GRCm39)	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,866,972 (GRCm39)	V679A	probably benign	Het
Lyst	G	A	13: 13,904,929 (GRCm39)	R3202H	probably damaging	Het
Micall2	A	G	5: 139,721,885 (GRCm39)	C11R	probably damaging	Het
Morc2b	T	G	17: 33,356,065 (GRCm39)	Q569P	probably benign	Het
Mtrf1	A	G	14: 79,639,111 (GRCm39)	E81G	probably damaging	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,326,914 (GRCm39)	D158E	probably benign	Het
Nckap5l	T	A	15: 99,320,699 (GRCm39)	T1285S	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,627,878 (GRCm39)	L453P	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2n1c	A	G	17: 38,519,355 (GRCm39)	Y73C	probably damaging	Het
Or4c125	T	A	2: 89,170,640 (GRCm39)	N2I	probably damaging	Het
Or52k2	A	T	7: 102,253,777 (GRCm39)	D72V	probably damaging	Het
Or7a40	T	A	16: 16,491,447 (GRCm39)	M133L	probably benign	Het
Patl1	T	C	19: 11,898,782 (GRCm39)	L159P	probably benign	Het
Paxip1	G	A	5: 27,949,134 (GRCm39)	T1045I	probably damaging	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pik3ca	A	G	3: 32,505,903 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plec	C	T	15: 76,073,372 (GRCm39)	R319H	probably damaging	Het
Pnkd	G	A	1: 74,391,008 (GRCm39)	G334D	probably damaging	Het
Prss50	A	G	9: 110,691,449 (GRCm39)	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,979,209 (GRCm39)	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,476,867 (GRCm39)	R4W	probably damaging	Het
Rgs19	A	T	2: 181,331,276 (GRCm39)	F119Y	probably damaging	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Serpine1	G	A	5: 137,096,601 (GRCm39)	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,308 (GRCm39)	T502S	possibly damaging	Het
Sox4	T	C	13: 29,136,631 (GRCm39)	D125G	probably damaging	Het
Spata31d1e	T	C	13: 59,890,599 (GRCm39)	D407G	probably damaging	Het
Stag3	C	T	5: 138,298,400 (GRCm39)	T731I	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964 (GRCm39)	V195F	probably benign	Het
Tnxb	A	G	17: 34,898,055 (GRCm39)	H901R	probably benign	Het
Trim39	A	T	17: 36,579,645 (GRCm39)	D103E	probably benign	Het
Ttn	A	T	2: 76,562,304 (GRCm39)	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,297,484 (GRCm39)	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,362,952 (GRCm39)	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,720,235 (GRCm39)	N419D	probably damaging	Het
Vps35	T	C	8: 86,005,623 (GRCm39)	D326G	possibly damaging	Het
Xdh	A	G	17: 74,199,746 (GRCm39)	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,478,007 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,282 (GRCm39)	Y104H	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
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
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'- CAGACAGTCAAAGTACTCCATTG -3'
(R):5'- CTGGGGTCTATAGCAGTTAACCAG -3'

Sequencing Primer
(F):5'- CCATTGATTCTAAAGACCAATGTCC -3'
(R):5'- TGCCTGTAACCATAGCTCTAGAG -3'

Posted On

2014-08-25