Mutagenetix > Incidental Mutation

Incidental Mutation 'R2424:Ctnna1'

249520

Institutional Source

Beutler Lab

Gene Symbol

Ctnna1

Ensembl Gene

ENSMUSG00000037815

Gene Name

catenin alpha 1

Synonyms

Catna1, alpha E catenin, alpha(E)-catenin, catenin (cadherin associated protein), alpha 1, 2010010M04Rik

MMRRC Submission

040386-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35251955-35387829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35386760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 846 (S846P)

Ref Sequence

ENSEMBL: ENSMUSP00000049007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042345]

AlphaFold

P26231

PDB Structure

CRYSTAL STRUCTURE OF THE ALPHA-CATENIN DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF A CHIMERA OF BETA-CATENIN AND ALPHA-CATENIN [X-RAY DIFFRACTION]
alpha-catenin fragment, residues 385-651 [X-RAY DIFFRACTION]
Alpha-E-catenin is an autoinhibited molecule that co-activates vinculin [X-RAY DIFFRACTION]
Alpha-E-catenin is an autoinhibited molecule that co-activates vinculin [X-RAY DIFFRACTION]
Crystal structure of full-length mouse alphaE-catenin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000042345
AA Change: S846P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: S846P

Domain	Start	End	E-Value	Type
Pfam:Vinculin	19	339	2.6e-99	PFAM
Pfam:Vinculin	333	867	3.3e-218	PFAM

Meta Mutation Damage Score

0.0978

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,590,159 (GRCm39)		probably null	Het
Acot3	G	T	12: 84,100,638 (GRCm39)	R138L	probably damaging	Het
Ago3	A	G	4: 126,298,040 (GRCm39)	V160A	probably damaging	Het
Akap9	A	C	5: 4,115,279 (GRCm39)	E166D	probably damaging	Het
Arid5a	T	C	1: 36,357,582 (GRCm39)	Y136H	probably damaging	Het
Ascc3	T	C	10: 50,494,297 (GRCm39)	V244A	probably benign	Het
Atp10a	A	T	7: 58,444,303 (GRCm39)	H560L	probably benign	Het
Btbd6	A	G	12: 112,941,980 (GRCm39)	T482A	probably benign	Het
Cacna1d	A	T	14: 29,770,980 (GRCm39)	Y1828N	probably damaging	Het
Capzb	A	G	4: 138,921,441 (GRCm39)	M1V	probably null	Het
Cdh9	T	G	15: 16,850,440 (GRCm39)	F524L	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dock7	T	A	4: 98,833,544 (GRCm39)	R1886*	probably null	Het
Dpp3	A	T	19: 4,957,735 (GRCm39)	L711*	probably null	Het
Dst	T	A	1: 34,206,141 (GRCm39)	I566N	probably damaging	Het
Eif2b3	T	A	4: 116,928,045 (GRCm39)	S421R	probably benign	Het
Epg5	T	C	18: 78,011,828 (GRCm39)	V825A	probably benign	Het
Eya1	T	A	1: 14,341,072 (GRCm39)		probably benign	Het
Fam187a	T	C	11: 102,776,780 (GRCm39)	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,336,859 (GRCm39)	C132Y	probably damaging	Het
Fbxw21	A	T	9: 108,986,587 (GRCm39)	Y97*	probably null	Het
Grin1	A	T	2: 25,208,664 (GRCm39)	C79S	probably null	Het
Haao	T	A	17: 84,142,991 (GRCm39)	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222 (GRCm39)	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,234,116 (GRCm39)	N66K	probably damaging	Het
Kif21a	T	A	15: 90,855,399 (GRCm39)	N668I	probably damaging	Het
Kprp	A	T	3: 92,732,912 (GRCm39)	L46Q	probably damaging	Het
Lama1	C	T	17: 68,105,660 (GRCm39)	T2056I	probably benign	Het
Madd	G	C	2: 90,996,967 (GRCm39)	D824E	probably damaging	Het
Mapk9	A	G	11: 49,754,499 (GRCm39)	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,527,748 (GRCm39)	V160A	probably benign	Het
Mrpl9	T	C	3: 94,351,113 (GRCm39)	S98P	probably benign	Het
Mybpc3	A	T	2: 90,966,138 (GRCm39)	M1233L	probably benign	Het
Neb	A	G	2: 52,099,671 (GRCm39)		probably benign	Het
Ngly1	A	G	14: 16,290,721 (GRCm38)		probably null	Het
Nt5c1b	A	T	12: 10,420,072 (GRCm39)	T4S	probably damaging	Het
Obscn	T	C	11: 58,885,277 (GRCm39)		probably benign	Het
Or2h2c	T	C	17: 37,422,408 (GRCm39)	I155M	probably benign	Het
Or4k15b	T	C	14: 50,272,281 (GRCm39)	Y193C	probably damaging	Het
Or8b1b	T	C	9: 38,376,128 (GRCm39)	S264P	probably damaging	Het
Or8g53	A	G	9: 39,683,593 (GRCm39)	F168L	probably benign	Het
Otog	A	T	7: 45,947,593 (GRCm39)	K64*	probably null	Het
Papola	A	G	12: 105,793,311 (GRCm39)	T544A	probably benign	Het
Phc1	A	G	6: 122,297,002 (GRCm39)	V790A	probably damaging	Het
Phf3	G	T	1: 30,845,430 (GRCm39)	R1252S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,730 (GRCm39)	T691A	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rgs17	T	A	10: 5,783,111 (GRCm39)	I159F	probably damaging	Het
Rgs17	T	A	10: 5,792,560 (GRCm39)	E62V	probably benign	Het
Rnase1	A	G	14: 51,383,004 (GRCm39)	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,811,096 (GRCm39)	D189G	probably damaging	Het
Sema4b	A	G	7: 79,869,023 (GRCm39)	N365S	probably damaging	Het
Setd2	A	G	9: 110,446,590 (GRCm39)	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,738,189 (GRCm39)	C415F	probably benign	Het
Stim1	A	G	7: 102,057,612 (GRCm39)	I142V	probably benign	Het
Supt5	T	C	7: 28,014,590 (GRCm39)	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,733,795 (GRCm39)	F174L	possibly damaging	Het
Tex26	A	G	5: 149,393,913 (GRCm39)		probably benign	Het
Tmem132d	A	G	5: 127,941,663 (GRCm39)	V479A	probably benign	Het
Ttn	T	C	2: 76,711,489 (GRCm39)		probably benign	Het
Urb2	T	A	8: 124,757,165 (GRCm39)	N957K	probably benign	Het
Usp24	T	C	4: 106,256,310 (GRCm39)		probably null	Het
Vmn2r114	T	C	17: 23,515,842 (GRCm39)	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,400,161 (GRCm39)	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,356,431 (GRCm39)	Y699*	probably null	Het

Other mutations in Ctnna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Ctnna1	APN	18	35,356,501 (GRCm39)	missense	probably damaging	0.97
IGL03068:Ctnna1	APN	18	35,382,785 (GRCm39)	missense	possibly damaging	0.66
IGL03286:Ctnna1	APN	18	35,308,206 (GRCm39)	missense	probably benign	0.37
PIT4458001:Ctnna1	UTSW	18	35,308,179 (GRCm39)	missense	possibly damaging	0.65
R0282:Ctnna1	UTSW	18	35,377,175 (GRCm39)	missense	possibly damaging	0.79
R1971:Ctnna1	UTSW	18	35,287,580 (GRCm39)	missense	probably benign
R2117:Ctnna1	UTSW	18	35,285,678 (GRCm39)	missense	possibly damaging	0.76
R4602:Ctnna1	UTSW	18	35,312,880 (GRCm39)	missense	possibly damaging	0.92
R4812:Ctnna1	UTSW	18	35,372,530 (GRCm39)	missense	probably damaging	1.00
R5120:Ctnna1	UTSW	18	35,315,607 (GRCm39)	critical splice donor site	probably null
R5469:Ctnna1	UTSW	18	35,372,573 (GRCm39)	missense	probably benign	0.00
R5607:Ctnna1	UTSW	18	35,382,795 (GRCm39)	missense	probably benign	0.25
R5629:Ctnna1	UTSW	18	35,382,802 (GRCm39)	missense	probably benign
R5824:Ctnna1	UTSW	18	35,312,939 (GRCm39)	missense	probably benign
R5971:Ctnna1	UTSW	18	35,287,567 (GRCm39)	missense	probably benign
R6191:Ctnna1	UTSW	18	35,307,408 (GRCm39)	missense	probably damaging	1.00
R7065:Ctnna1	UTSW	18	35,285,669 (GRCm39)	missense	probably benign
R7519:Ctnna1	UTSW	18	35,307,424 (GRCm39)	missense	probably benign	0.02
R7624:Ctnna1	UTSW	18	35,377,897 (GRCm39)	missense	probably benign	0.00
R7636:Ctnna1	UTSW	18	35,356,526 (GRCm39)	missense	possibly damaging	0.92
R8086:Ctnna1	UTSW	18	35,285,713 (GRCm39)	missense	possibly damaging	0.55
R8354:Ctnna1	UTSW	18	35,385,776 (GRCm39)	missense	possibly damaging	0.94
R8765:Ctnna1	UTSW	18	35,384,293 (GRCm39)	missense	probably damaging	0.97
R8889:Ctnna1	UTSW	18	35,372,586 (GRCm39)	missense	possibly damaging	0.46
R8892:Ctnna1	UTSW	18	35,372,586 (GRCm39)	missense	possibly damaging	0.46
R9246:Ctnna1	UTSW	18	35,356,562 (GRCm39)	missense	probably benign	0.00
U15987:Ctnna1	UTSW	18	35,287,567 (GRCm39)	missense	probably benign
X0021:Ctnna1	UTSW	18	35,315,598 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTGCCCTTGTCTGAGCAGTAC -3'
(R):5'- ATGGCTTTGAACTCGCTCAG -3'

Sequencing Primer
(F):5'- GCTCTTAAGGAGATGAGGCTC -3'
(R):5'- TTTGAACTCGCTCAGGGCCTG -3'

Posted On

2014-11-12