Incidental Mutation 'IGL02721:Ctnna2'
ID |
305007 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
IGL02721
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76958852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 454
(N454S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
AlphaFold |
Q61301 |
PDB Structure |
Crystal structure of the alphaN-catenin actin-binding domain [X-RAY DIFFRACTION]
Structural and thermodynamic characterization of cadherin-beta-catenin-alpha-catenin complex formation [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: N441S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000074809 Gene: ENSMUSG00000063063 AA Change: N441S
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: N441S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124376 Gene: ENSMUSG00000063063 AA Change: N441S
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
18 |
337 |
3.4e-105 |
PFAM |
Pfam:Vinculin
|
330 |
914 |
6.6e-214 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160894
AA Change: N454S
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124764 Gene: ENSMUSG00000063063 AA Change: N454S
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: N454S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123714 Gene: ENSMUSG00000063063 AA Change: N454S
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 benign
Transcript: ENSMUST00000204527
AA Change: N89S
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144890 Gene: ENSMUSG00000063063 AA Change: N89S
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
2 |
232 |
2.9e-94 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
A |
9: 55,888,124 (GRCm39) |
I398L |
probably benign |
Het |
4931414P19Rik |
A |
G |
14: 54,823,202 (GRCm39) |
S332P |
probably damaging |
Het |
Abca7 |
T |
C |
10: 79,849,469 (GRCm39) |
S1877P |
possibly damaging |
Het |
Adora2b |
G |
T |
11: 62,155,931 (GRCm39) |
A127S |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,987,071 (GRCm39) |
K2785R |
probably benign |
Het |
Anapc2 |
G |
A |
2: 25,164,680 (GRCm39) |
W21* |
probably null |
Het |
Atp7b |
A |
G |
8: 22,512,493 (GRCm39) |
S457P |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,591,556 (GRCm39) |
Q1046R |
probably null |
Het |
Comp |
A |
T |
8: 70,828,731 (GRCm39) |
N188Y |
probably damaging |
Het |
Crnkl1 |
A |
T |
2: 145,765,801 (GRCm39) |
I423K |
possibly damaging |
Het |
Crtap |
A |
T |
9: 114,210,707 (GRCm39) |
V289E |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,234,389 (GRCm39) |
|
probably null |
Het |
Dstyk |
T |
G |
1: 132,377,054 (GRCm39) |
V220G |
probably benign |
Het |
E230025N22Rik |
C |
T |
18: 36,828,664 (GRCm39) |
V5M |
probably damaging |
Het |
Fam111a |
T |
G |
19: 12,564,336 (GRCm39) |
N28K |
probably benign |
Het |
Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
Fgb |
A |
C |
3: 82,950,674 (GRCm39) |
V360G |
possibly damaging |
Het |
Gm3404 |
A |
T |
5: 146,463,738 (GRCm39) |
R128* |
probably null |
Het |
Hal |
G |
T |
10: 93,343,360 (GRCm39) |
G535* |
probably null |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Igsf5 |
T |
A |
16: 96,192,222 (GRCm39) |
S274T |
probably damaging |
Het |
Kdm7a |
C |
T |
6: 39,150,371 (GRCm39) |
A134T |
possibly damaging |
Het |
Klhl25 |
G |
T |
7: 75,516,648 (GRCm39) |
W518L |
probably damaging |
Het |
Map1a |
A |
T |
2: 121,134,518 (GRCm39) |
D1778V |
probably benign |
Het |
Nif3l1 |
A |
G |
1: 58,497,008 (GRCm39) |
D311G |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,565,716 (GRCm39) |
I406N |
possibly damaging |
Het |
Or10ab5 |
G |
T |
7: 108,245,582 (GRCm39) |
S67* |
probably null |
Het |
Or2y1d |
T |
A |
11: 49,321,468 (GRCm39) |
L55* |
probably null |
Het |
Or6c210 |
C |
T |
10: 129,495,824 (GRCm39) |
P50S |
probably benign |
Het |
Or6c211 |
A |
T |
10: 129,505,992 (GRCm39) |
I132N |
probably benign |
Het |
Pcdhb18 |
T |
A |
18: 37,623,084 (GRCm39) |
M138K |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,682,699 (GRCm39) |
T27A |
probably benign |
Het |
Plekhb2 |
A |
G |
1: 34,908,445 (GRCm39) |
N163S |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,048,927 (GRCm39) |
|
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,324,577 (GRCm39) |
L357P |
possibly damaging |
Het |
Skint5 |
T |
A |
4: 113,799,746 (GRCm39) |
D141V |
probably damaging |
Het |
Slc10a5 |
A |
G |
3: 10,399,595 (GRCm39) |
V355A |
probably benign |
Het |
Speer1c |
T |
C |
5: 10,293,883 (GRCm39) |
K106E |
probably damaging |
Het |
Ssh2 |
G |
T |
11: 77,345,551 (GRCm39) |
G1179* |
probably null |
Het |
Syde2 |
A |
G |
3: 145,707,759 (GRCm39) |
N566S |
probably damaging |
Het |
Sytl1 |
T |
C |
4: 132,986,189 (GRCm39) |
R149G |
probably benign |
Het |
Tnpo2 |
A |
G |
8: 85,781,319 (GRCm39) |
|
probably null |
Het |
Top2b |
T |
C |
14: 16,409,236 (GRCm38) |
L793P |
probably damaging |
Het |
U2surp |
T |
A |
9: 95,356,488 (GRCm39) |
E789D |
probably benign |
Het |
Vps13c |
G |
A |
9: 67,871,431 (GRCm39) |
|
probably benign |
Het |
Zbtb34 |
C |
T |
2: 33,301,270 (GRCm39) |
G424R |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,308,367 (GRCm39) |
D531G |
possibly damaging |
Het |
Zfp787 |
C |
T |
7: 6,135,463 (GRCm39) |
|
probably null |
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 |
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 |
R0539:Ctnna2
|
UTSW |
6 |
76,950,882 (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 |
|
Posted On |
2015-04-16 |