Incidental Mutation 'R0379:Ctnna2'
| ID |
30859 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
038585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R0379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77618423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 180
(T180S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
| 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 benign
Transcript: ENSMUST00000075340
AA Change: T167S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: T167S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
2e-104 |
PFAM |
|
Pfam:Vinculin
|
331 |
866 |
7.7e-222 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159626
AA Change: T167S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: T167S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
3.4e-105 |
PFAM |
|
Pfam:Vinculin
|
330 |
914 |
6.6e-214 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160894
AA Change: T180S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: T180S
| 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 benign
Transcript: ENSMUST00000161846
AA Change: T180S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: T180S
| 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: ENSMUST00000162273
AA Change: T167S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: T167S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
| Meta Mutation Damage Score |
0.0677 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
98% (79/81) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
G |
11: 11,539,365 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
C |
19: 23,912,194 (GRCm39) |
N558T |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,702,320 (GRCm39) |
|
probably null |
Het |
| Arsb |
T |
C |
13: 94,077,135 (GRCm39) |
S501P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,145,141 (GRCm39) |
T1295A |
probably benign |
Het |
| Atp8b5 |
G |
T |
4: 43,361,898 (GRCm39) |
R648L |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,789 (GRCm39) |
I126T |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,090,802 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,430 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,467,778 (GRCm39) |
K1692R |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,791 (GRCm39) |
T13A |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Clec4g |
A |
G |
8: 3,768,440 (GRCm39) |
V97A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,229,897 (GRCm39) |
R1483K |
possibly damaging |
Het |
| Crem |
A |
T |
18: 3,299,226 (GRCm39) |
V82D |
probably damaging |
Het |
| Cybrd1 |
T |
C |
2: 70,960,099 (GRCm39) |
I99T |
probably benign |
Het |
| Cyp4a32 |
G |
A |
4: 115,478,671 (GRCm39) |
V468M |
probably damaging |
Het |
| Dlk1 |
A |
G |
12: 109,420,985 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,627,466 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,179,336 (GRCm39) |
Y1003F |
probably benign |
Het |
| Egfem1 |
A |
C |
3: 29,722,399 (GRCm39) |
E376A |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,812,165 (GRCm39) |
I1416K |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,386,106 (GRCm39) |
T238A |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,420,187 (GRCm39) |
I33M |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,794,049 (GRCm39) |
S830P |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,368 (GRCm39) |
R3082* |
probably null |
Het |
| Galnt13 |
T |
C |
2: 54,950,504 (GRCm39) |
V395A |
possibly damaging |
Het |
| Gpd2 |
C |
T |
2: 57,235,275 (GRCm39) |
T335I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,235,759 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
G |
T |
19: 8,874,497 (GRCm39) |
V819L |
possibly damaging |
Het |
| Klhdc10 |
C |
G |
6: 30,450,669 (GRCm39) |
Q292E |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,566 (GRCm39) |
A67T |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,430,838 (GRCm39) |
T404P |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,470 (GRCm39) |
S249P |
probably benign |
Het |
| Mcm10 |
T |
A |
2: 5,013,434 (GRCm39) |
K66M |
probably benign |
Het |
| Mtmr7 |
C |
A |
8: 41,004,642 (GRCm39) |
D645Y |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,216,868 (GRCm39) |
I2602F |
possibly damaging |
Het |
| Myh13 |
G |
A |
11: 67,260,121 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,741,632 (GRCm39) |
V1776I |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,406,695 (GRCm39) |
L957S |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,896,422 (GRCm39) |
S442P |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,079 (GRCm39) |
E2K |
probably benign |
Het |
| Or6x1 |
G |
A |
9: 40,098,729 (GRCm39) |
G106D |
probably damaging |
Het |
| Or7g32 |
T |
A |
9: 19,388,776 (GRCm39) |
T257S |
possibly damaging |
Het |
| Pdcd6 |
G |
T |
13: 74,457,831 (GRCm39) |
N113K |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,856,810 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,024,195 (GRCm39) |
H401R |
probably benign |
Het |
| Phldb2 |
C |
A |
16: 45,601,814 (GRCm39) |
D754Y |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,902,195 (GRCm39) |
M49K |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,445 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,077 (GRCm39) |
N64S |
probably benign |
Het |
| Prss3l |
T |
G |
6: 41,422,190 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,864,583 (GRCm39) |
S393P |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,315,973 (GRCm39) |
T15I |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,329,697 (GRCm39) |
L143S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpinf1 |
T |
G |
11: 75,304,771 (GRCm39) |
I197L |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,787,925 (GRCm39) |
V271I |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,853,048 (GRCm39) |
D34G |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,059,161 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,233,211 (GRCm39) |
I51T |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,491,989 (GRCm39) |
R9Q |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,997,344 (GRCm39) |
H470L |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,548,841 (GRCm39) |
Y12N |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,612,105 (GRCm39) |
E69G |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,691,116 (GRCm39) |
T474M |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,019,201 (GRCm39) |
N777K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,184,016 (GRCm39) |
L1440P |
probably damaging |
Het |
| Usp28 |
A |
C |
9: 48,935,367 (GRCm39) |
D458A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,851,665 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn1r73 |
C |
T |
7: 11,490,773 (GRCm39) |
T197I |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,344 (GRCm39) |
S787G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,948,401 (GRCm39) |
I549N |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
| Zfp974 |
T |
A |
7: 27,610,357 (GRCm39) |
N456I |
probably damaging |
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 |
|
IGL02721:Ctnna2
|
APN |
6 |
76,958,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTTCATGCAAGTGTGGTGAGAC -3'
(R):5'- ACAAAGCTTGGATGCTCTACAGCAG -3'
Sequencing Primer
(F):5'- CTCATCAGTGAAAAGTGGTGCTC -3'
(R):5'- GGATGCTCTACAGCAGTCTCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation