Incidental Mutation 'R5971:Ctnna1'
| ID |
470856 |
| 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 |
044154-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5971 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35251955-35387829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35287567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 92
(V92A)
|
| 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: V92A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: V92A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
87% (27/31) |
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 5031439G07Rik |
G |
T |
15: 84,871,863 (GRCm39) |
A4D |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Anxa10 |
C |
A |
8: 62,530,960 (GRCm39) |
M83I |
probably benign |
Het |
| Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
| Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,133,656 (GRCm39) |
T199A |
probably benign |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
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 |
|
|
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'- GGTTACAACCCTGGTAAACACC -3'
(R):5'- CAACTCTCCCCTGGTGAATAAC -3'
Sequencing Primer
(F):5'- ACCAATAGTAAAGGGCCGTC -3'
(R):5'- GAGAGCTGCTGCCACATTTGATAAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation