Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Ctnna2'

49688

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

038731-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R0539 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

76858620-77956682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76950882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 165 (I165F)

Ref Sequence

ENSEMBL: ENSMUSP00000144890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000204527]

AlphaFold

Q61301

Predicted Effect

probably damaging
Transcript: ENSMUST00000075340
AA Change: I517F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: I517F

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: I517F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: I517F

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: I530F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: I530F

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: I530F

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

SMART Domains

Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: I530F

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: ENSMUST00000204527
AA Change: I165F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
AA Change: I165F

Domain	Start	End	E-Value	Type
Pfam:Vinculin	2	232	2.9e-94	PFAM

Meta Mutation Damage Score

0.8638

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,536,692 (GRCm39)	H129Q	probably damaging	Het
Abca14	G	A	7: 119,807,020 (GRCm39)	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,976,503 (GRCm39)	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208 (GRCm39)	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,665,580 (GRCm39)	G574S	probably damaging	Het
Adgrg5	T	A	8: 95,665,260 (GRCm39)	N389K	probably damaging	Het
Ankk1	A	G	9: 49,329,330 (GRCm39)	V80A	probably benign	Het
Arhgap20	A	G	9: 51,761,455 (GRCm39)	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,919,610 (GRCm39)	K32*	probably null	Het
AW209491	T	C	13: 14,812,317 (GRCm39)	F390S	probably damaging	Het
Axl	A	T	7: 25,478,142 (GRCm39)		probably benign	Het
Bri3bp	A	G	5: 125,531,603 (GRCm39)	Y183C	probably damaging	Het
Cad	T	C	5: 31,232,801 (GRCm39)		probably benign	Het
Capns2	A	G	8: 93,628,360 (GRCm39)	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010 (GRCm39)	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,852,892 (GRCm39)	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,500,641 (GRCm39)	V166A	possibly damaging	Het
Clmp	A	G	9: 40,693,782 (GRCm39)	Y333C	probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,199,792 (GRCm39)	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,874,894 (GRCm39)	D738G	probably benign	Het
Dcaf7	T	G	11: 105,942,652 (GRCm39)	S200A	probably damaging	Het
Deup1	T	A	9: 15,493,893 (GRCm39)	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,990,497 (GRCm39)		probably benign	Het
Dnaaf11	A	T	15: 66,319,455 (GRCm39)	V305D	probably damaging	Het
Dnase2b	A	T	3: 146,294,910 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,383,287 (GRCm39)	Y931C	probably damaging	Het
Fam83h	T	C	15: 75,875,076 (GRCm39)	S754G	possibly damaging	Het
Fibp	T	A	19: 5,513,216 (GRCm39)	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,723,725 (GRCm39)	I571T	probably damaging	Het
Grm7	T	G	6: 111,336,055 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,745 (GRCm39)	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,343,033 (GRCm39)		probably benign	Het
H4c3	A	G	13: 23,882,131 (GRCm39)	F101S	probably damaging	Het
Hydin	A	G	8: 111,249,704 (GRCm39)	I2216V	probably benign	Het
Ipo8	A	G	6: 148,719,606 (GRCm39)	M113T	probably benign	Het
Kdm6a	A	G	X: 18,128,664 (GRCm39)	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,078,229 (GRCm39)	E117K	probably damaging	Het
Lin7b	A	G	7: 45,019,326 (GRCm39)		probably benign	Het
Lipn	G	A	19: 34,062,003 (GRCm39)		probably benign	Het
Lrfn2	C	A	17: 49,378,072 (GRCm39)	N384K	probably damaging	Het
Map1b	T	C	13: 99,570,526 (GRCm39)	K732E	unknown	Het
Mpl	A	G	4: 118,300,705 (GRCm39)	M541T	possibly damaging	Het
Mprip	T	C	11: 59,631,943 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,274,937 (GRCm39)		probably benign	Het
Ms4a13	T	C	19: 11,149,235 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 112,871,734 (GRCm39)	R2116S	probably damaging	Het
Nav2	A	G	7: 49,111,686 (GRCm39)	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,257,617 (GRCm39)	A642D	probably benign	Het
Ndufs7	T	A	10: 80,090,665 (GRCm39)		probably benign	Het
Nfkbiz	G	A	16: 55,638,242 (GRCm39)	T406M	probably benign	Het
Nr4a1	A	G	15: 101,168,765 (GRCm39)	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,543,434 (GRCm39)	F1103V	probably damaging	Het
Or10ab4	C	T	7: 107,655,029 (GRCm39)	T280I	probably damaging	Het
Or10d3	A	T	9: 39,461,593 (GRCm39)	D191E	probably damaging	Het
Or1e22	T	C	11: 73,376,889 (GRCm39)	T254A	probably benign	Het
Or5a3	C	T	19: 12,400,173 (GRCm39)	L167F	probably damaging	Het
Or5g27	T	A	2: 85,410,119 (GRCm39)	C179S	probably damaging	Het
Or5m11	G	T	2: 85,782,353 (GRCm39)	M315I	probably benign	Het
Or8u9	A	T	2: 86,001,387 (GRCm39)	M258K	probably damaging	Het
Phf1	A	G	17: 27,153,432 (GRCm39)		probably null	Het
Pip	C	T	6: 41,826,819 (GRCm39)	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,008,989 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,363,906 (GRCm39)		probably null	Het
Psph	T	A	5: 129,843,641 (GRCm39)		probably benign	Het
Ptch1	C	T	13: 63,691,294 (GRCm39)		probably benign	Het
Ptprs	C	T	17: 56,765,255 (GRCm39)	V10M	probably damaging	Het
Rarg	T	C	15: 102,147,312 (GRCm39)	R358G	probably damaging	Het
Rbl2	T	C	8: 91,839,133 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,782,462 (GRCm39)		probably benign	Het
Scin	A	T	12: 40,131,765 (GRCm39)	D256E	possibly damaging	Het
Scn8a	T	C	15: 100,914,449 (GRCm39)	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,254,155 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,289,964 (GRCm39)	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,568,129 (GRCm39)	I519V	probably benign	Het
Slc30a9	C	T	5: 67,491,953 (GRCm39)	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,069,001 (GRCm39)	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558 (GRCm39)	K466N	probably benign	Het
Snx16	T	C	3: 10,491,278 (GRCm39)	E209G	probably damaging	Het
Sp3	A	T	2: 72,800,876 (GRCm39)	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,345,620 (GRCm39)	V1202F	probably benign	Het
Stam2	A	T	2: 52,593,268 (GRCm39)		probably benign	Het
Stox2	T	C	8: 47,647,070 (GRCm39)	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,742,519 (GRCm39)	T49A	probably damaging	Het
Supt3	A	T	17: 45,314,018 (GRCm39)	I136F	possibly damaging	Het
Syne2	A	T	12: 76,070,895 (GRCm39)	R103S	possibly damaging	Het
Synj2	T	A	17: 6,047,163 (GRCm39)	M1K	probably null	Het
Tas2r110	T	C	6: 132,845,334 (GRCm39)	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,612,793 (GRCm39)	T110A	possibly damaging	Het
Tmem247	A	G	17: 87,224,906 (GRCm39)	D5G	probably benign	Het
Tmem39a	T	A	16: 38,411,337 (GRCm39)	F363I	probably benign	Het
Tmem80	G	A	7: 140,915,808 (GRCm39)	A73T	possibly damaging	Het
Trpm4	C	T	7: 44,954,896 (GRCm39)	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,092,840 (GRCm39)		probably benign	Het
Vmn1r120	A	T	7: 20,787,397 (GRCm39)	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,314,874 (GRCm39)		probably benign	Het
Vmn2r95	T	C	17: 18,672,362 (GRCm39)	F700L	probably damaging	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het
Zbtb22	A	G	17: 34,137,118 (GRCm39)	D421G	possibly damaging	Het
Zbtb45	G	A	7: 12,740,260 (GRCm39)	R452C	probably damaging	Het
Zfhx3	T	C	8: 109,527,141 (GRCm39)	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,540,520 (GRCm39)		probably null	Het
Zfp532	T	A	18: 65,756,837 (GRCm39)	S257T	probably benign	Het
Zfp933	G	A	4: 147,911,005 (GRCm39)	T197I	probably benign	Het
Zgrf1	T	A	3: 127,408,841 (GRCm39)	N1649K	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAATTTTGTGGCTTCCAGCAC -3'
(R):5'- AAGACCTGCGTGATAAGCCCTCTG -3'

Sequencing Primer
(F):5'- GTGGCTTCCAGCACTTTCTC -3'
(R):5'- GGCTGATGCTAAGGTTTCACAAC -3'

Posted On

2013-06-12