Mutagenetix > Incidental Mutation

Incidental Mutation 'R7636:Ctnna1'

589985

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

045722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7636 (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 35356526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 398 (N398K)

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

possibly damaging
Transcript: ENSMUST00000042345
AA Change: N398K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: N398K

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 16,935,701 (GRCm39)	E199K	possibly damaging	Het
Akap13	C	A	7: 75,259,621 (GRCm39)	N748K	probably benign	Het
Aldh16a1	G	T	7: 44,796,955 (GRCm39)	P58T	unknown	Het
Amhr2	T	A	15: 102,360,893 (GRCm39)	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,380,239 (GRCm39)	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,513,048 (GRCm39)	L649*	probably null	Het
Apob	T	C	12: 8,059,516 (GRCm39)	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,015,621 (GRCm39)	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344 (GRCm39)	I384V	probably benign	Het
Cimip2a	A	T	2: 25,108,832 (GRCm39)	H7L	probably damaging	Het
Clcn1	A	T	6: 42,268,268 (GRCm39)	K147*	probably null	Het
Dcdc2a	A	T	13: 25,286,605 (GRCm39)	K176M	probably damaging	Het
Depdc5	T	A	5: 33,075,327 (GRCm39)	S502T	probably benign	Het
Fam83e	G	A	7: 45,376,450 (GRCm39)	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,317,614 (GRCm39)	E99K	probably benign	Het
Fbxw2	T	C	2: 34,702,956 (GRCm39)	T186A	probably benign	Het
Frem2	T	A	3: 53,560,668 (GRCm39)	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,395,326 (GRCm39)	D321E	probably damaging	Het
Gsdmc2	T	A	15: 63,700,041 (GRCm39)	T244S	probably benign	Het
Heatr5a	C	A	12: 51,934,979 (GRCm39)	G1675W	probably damaging	Het
Heatr5a	G	A	12: 51,999,341 (GRCm39)	L287F	probably damaging	Het
Hfm1	C	A	5: 107,065,332 (GRCm39)	A116S	probably benign	Het
Insr	A	G	8: 3,308,709 (GRCm39)	I109T	probably damaging	Het
Itga4	A	G	2: 79,144,176 (GRCm39)	I688V	probably benign	Het
Lipe	A	G	7: 25,088,042 (GRCm39)	M49T	probably benign	Het
Lrriq3	A	G	3: 154,893,787 (GRCm39)	Y496C	probably damaging	Het
Lyst	T	C	13: 13,791,332 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,410,061 (GRCm39)	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630 (GRCm39)	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,630,721 (GRCm39)	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,579,593 (GRCm39)	V386A	possibly damaging	Het
Or2w3b	A	T	11: 58,623,273 (GRCm39)	N239K	possibly damaging	Het
Or4a15	A	T	2: 89,193,583 (GRCm39)	Y63*	probably null	Het
Or52s6	C	A	7: 103,092,040 (GRCm39)	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,179,870 (GRCm39)	D113E	possibly damaging	Het
Rab11fip2	A	T	19: 59,931,317 (GRCm39)	I39K	possibly damaging	Het
Rab1b	A	T	19: 5,150,810 (GRCm39)	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,597,586 (GRCm39)	L140Q	probably damaging	Het
Repin1	T	C	6: 48,573,299 (GRCm39)	F76S	probably benign	Het
Robo1	A	G	16: 72,360,615 (GRCm39)	D9G		Het
Scn3a	A	G	2: 65,328,033 (GRCm39)	L819P	probably damaging	Het
Scn7a	A	T	2: 66,574,172 (GRCm39)	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,615,023 (GRCm39)	S38P	probably benign	Het
Sin3b	A	T	8: 73,474,362 (GRCm39)	K549*	probably null	Het
Sorl1	A	G	9: 42,003,630 (GRCm39)	F222S	possibly damaging	Het
Spata31h1	T	A	10: 82,130,973 (GRCm39)	D679V	probably benign	Het
Tmem147	A	T	7: 30,427,726 (GRCm39)		probably null	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem179	C	T	12: 112,477,177 (GRCm39)		probably null	Het
Tubg2	A	T	11: 101,050,913 (GRCm39)	I213F	probably damaging	Het
Zfhx3	T	C	8: 109,673,441 (GRCm39)	I1497T	probably benign	Het
Zfp128	A	T	7: 12,624,039 (GRCm39)	M136L	probably benign	Het
Zzz3	G	A	3: 152,133,289 (GRCm39)	A116T	probably benign	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
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'- TGAAGCTTGTCTCACTGGAG -3'
(R):5'- TGTGCACTGATGAGCCCTTG -3'

Sequencing Primer
(F):5'- TCACTGGAGTGCTCACATG -3'
(R):5'- TGCACTGATGAGCCCTTGAAGAC -3'

Posted On

2019-10-24