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: 0.951)
|
| 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 |
Incidental Mutation