Mutagenetix > Incidental Mutation

Incidental Mutation 'R8765:Ctnna1'

667858

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

068599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35251955-35387829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35384293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 756 (M756K)

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 damaging
Transcript: ENSMUST00000042345
AA Change: M756K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: M756K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,566,956 (GRCm39)	D452N	possibly damaging	Het
Actr1a	G	T	19: 46,372,787 (GRCm39)		probably benign	Het
Alox15	A	G	11: 70,240,819 (GRCm39)	V187A	probably benign	Het
Alpk1	A	T	3: 127,466,118 (GRCm39)	N1129K	probably damaging	Het
Angptl1	A	G	1: 156,684,727 (GRCm39)	N299D	probably benign	Het
Ank2	T	C	3: 126,850,731 (GRCm39)	T128A	possibly damaging	Het
Armh4	C	T	14: 49,920,100 (GRCm39)	R743K	probably damaging	Het
Arsj	G	A	3: 126,232,781 (GRCm39)	R509K	probably benign	Het
Atp6v0a2	G	A	5: 124,793,534 (GRCm39)	M630I	probably damaging	Het
BC107364	T	C	3: 96,341,751 (GRCm39)	H122R	unknown	Het
Bdh2	T	C	3: 134,996,841 (GRCm39)	M112T	probably benign	Het
C1qtnf3	G	A	15: 10,952,843 (GRCm39)		probably null	Het
Cables1	T	C	18: 12,056,422 (GRCm39)	L326P	probably benign	Het
Cacna1c	C	A	6: 118,580,844 (GRCm39)	A1769S		Het
Cacna2d2	T	C	9: 107,394,358 (GRCm39)	L567P	probably damaging	Het
Cacnb4	C	T	2: 52,327,001 (GRCm39)	R399H	probably damaging	Het
Cacng4	A	C	11: 107,625,976 (GRCm39)	I205S	probably damaging	Het
Ciz1	A	G	2: 32,260,895 (GRCm39)	K269E	probably damaging	Het
Csf1	A	G	3: 107,663,991 (GRCm39)	V35A	probably benign	Het
Csmd1	G	T	8: 16,760,627 (GRCm39)	Y169*	probably null	Het
Dnah7b	T	A	1: 46,392,159 (GRCm39)	L3840Q	possibly damaging	Het
Fabp9	T	C	3: 10,258,813 (GRCm39)	*143W	probably null	Het
Fh1	C	T	1: 175,435,378 (GRCm39)		probably benign	Het
Fmo2	T	C	1: 162,707,966 (GRCm39)	T390A	probably benign	Het
Fsip1	G	T	2: 118,082,154 (GRCm39)	D93E	possibly damaging	Het
Golga5	A	G	12: 102,445,963 (GRCm39)	D406G	probably benign	Het
Gucy2d	C	A	7: 98,108,347 (GRCm39)	A760E	probably benign	Het
Hax1	T	C	3: 89,904,780 (GRCm39)	I141V	probably benign	Het
Hid1	T	A	11: 115,239,786 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,556,413 (GRCm39)	V2458I	probably damaging	Het
Igkv4-72	A	G	6: 69,203,894 (GRCm39)	V99A	probably benign	Het
Igkv5-39	G	A	6: 69,877,915 (GRCm39)	S16L	probably benign	Het
Ints4	T	A	7: 97,151,016 (GRCm39)	D294E	possibly damaging	Het
Lcn11	A	G	2: 25,668,139 (GRCm39)	Y99C	probably damaging	Het
Lrrc8b	G	A	5: 105,629,133 (GRCm39)	R493H	probably benign	Het
Mon1b	A	T	8: 114,362,881 (GRCm39)	D43V	possibly damaging	Het
Mrpl9	G	A	3: 94,355,129 (GRCm39)	V234I	possibly damaging	Het
Nek10	A	T	14: 14,999,104 (GRCm38)	E1034D	probably damaging	Het
Nfxl1	T	C	5: 72,686,443 (GRCm39)	H586R	probably benign	Het
Nit2	T	A	16: 56,979,832 (GRCm39)	D211V	probably benign	Het
Nle1	G	A	11: 82,793,882 (GRCm39)	R385C	probably damaging	Het
Or10ak12	T	C	4: 118,666,159 (GRCm39)	T301A	probably benign	Het
Or1i2	C	T	10: 78,448,429 (GRCm39)	M15I	probably benign	Het
Or2a25	T	C	6: 42,889,102 (GRCm39)	V215A	probably benign	Het
Or2ab1	G	T	11: 58,488,785 (GRCm39)	V182F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,467 (GRCm39)	H132R	probably benign	Het
Or6c213	A	G	10: 129,574,511 (GRCm39)	Y92H	probably damaging	Het
Pcdh10	T	C	3: 45,333,923 (GRCm39)	I79T	probably damaging	Het
Peg10	A	G	6: 4,754,492 (GRCm39)	D91G	unknown	Het
Plec	C	T	15: 76,066,045 (GRCm39)	A1342T	unknown	Het
Ppp2r3d	A	G	9: 124,439,649 (GRCm38)	V68A		Het
Pramel46	T	C	5: 95,419,447 (GRCm39)	M1V	probably null	Het
Psd3	A	T	8: 68,416,093 (GRCm39)	D315E	possibly damaging	Het
Rack1	A	G	11: 48,694,286 (GRCm39)	N162S	probably benign	Het
Slc12a8	C	A	16: 33,338,731 (GRCm39)	H11Q	possibly damaging	Het
Slc44a5	A	T	3: 153,968,561 (GRCm39)	D584V	probably damaging	Het
Spata18	T	C	5: 73,825,992 (GRCm39)	S100P		Het
Stap2	G	T	17: 56,310,145 (GRCm39)	S53R	probably damaging	Het
Timeless	T	C	10: 128,080,412 (GRCm39)		probably null	Het
Tlk1	A	T	2: 70,582,581 (GRCm39)	S183T	probably benign	Het
Tpp2	T	A	1: 44,011,849 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,654,663 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,696,145 (GRCm39)	V40A	probably benign	Het
Vmn1r15	T	C	6: 57,235,585 (GRCm39)	V151A	probably benign	Het
Vmn1r198	A	C	13: 22,539,269 (GRCm39)	I252L	probably damaging	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Wdr89	A	G	12: 75,679,688 (GRCm39)	S189P	probably damaging	Het
Zfp1006	T	C	8: 129,948,070 (GRCm39)	D49G	probably benign	Het
Zfp873	T	A	10: 81,896,072 (GRCm39)	C268S	probably damaging	Het
Zfp932	T	A	5: 110,154,827 (GRCm39)	D8E	probably benign	Het
Zfyve16	T	C	13: 92,658,055 (GRCm39)	R619G	probably benign	Het
Zswim2	A	T	2: 83,771,431 (GRCm39)	I31N	probably damaging	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
R2424:Ctnna1	UTSW	18	35,386,760 (GRCm39)	missense	probably benign	0.00
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
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'- TGGAGATGACCGACTTCACC -3'
(R):5'- TCCAGAGACTTGTCAAATAGGAG -3'

Sequencing Primer
(F):5'- ACTTCACCCGGTGAGCAGAG -3'
(R):5'- GTTGAGAAATCCTTAGGAACGTTATG -3'

Posted On

2021-03-08