Incidental Mutation 'R4999:Ctnna2'
| ID |
389724 |
| 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 |
042593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R4999 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76892745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 814
(N814S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000075340
AA Change: N801S
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: N801S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
2e-104 |
PFAM |
|
Pfam:Vinculin
|
331 |
866 |
7.7e-222 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159626
AA Change: N801S
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: N801S
| 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: N814S
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: N814S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
31 |
352 |
2.1e-104 |
PFAM |
|
Pfam:Vinculin
|
343 |
927 |
4.6e-213 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161846
AA Change: N814S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: N814S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
2 |
232 |
2.9e-94 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444P10Rik |
A |
G |
1: 16,139,022 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 121,899,019 (GRCm39) |
V667D |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,176,507 (GRCm39) |
I224V |
probably damaging |
Het |
| Arel1 |
C |
T |
12: 84,978,541 (GRCm39) |
V364M |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,009,435 (GRCm39) |
V484A |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,302,766 (GRCm39) |
F681L |
probably benign |
Het |
| Atrn |
C |
A |
2: 130,817,874 (GRCm39) |
D809E |
probably damaging |
Het |
| Ccdc70 |
G |
A |
8: 22,463,266 (GRCm39) |
V19M |
possibly damaging |
Het |
| Ccp110 |
G |
T |
7: 118,329,235 (GRCm39) |
E73* |
probably null |
Het |
| Cfap57 |
A |
C |
4: 118,453,045 (GRCm39) |
S553A |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,221,613 (GRCm39) |
K212E |
probably benign |
Het |
| Chkb |
A |
T |
15: 89,312,368 (GRCm39) |
Y216N |
probably damaging |
Het |
| Cntnap2 |
G |
T |
6: 45,897,768 (GRCm39) |
D149Y |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,048 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
C |
T |
2: 91,813,571 (GRCm39) |
D489N |
probably benign |
Het |
| Crhbp |
A |
G |
13: 95,578,753 (GRCm39) |
F123L |
probably damaging |
Het |
| Cryab |
T |
C |
9: 50,665,909 (GRCm39) |
V100A |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,415,723 (GRCm39) |
I2684T |
probably benign |
Het |
| Ctbp2 |
G |
T |
7: 132,616,378 (GRCm39) |
P186T |
possibly damaging |
Het |
| Dntt |
T |
C |
19: 41,028,295 (GRCm39) |
V197A |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,059,758 (GRCm39) |
A1187V |
possibly damaging |
Het |
| Filip1l |
A |
T |
16: 57,390,778 (GRCm39) |
Q455H |
probably benign |
Het |
| Grm2 |
T |
C |
9: 106,531,189 (GRCm39) |
E100G |
probably damaging |
Het |
| Gtf2ird2 |
G |
A |
5: 134,246,306 (GRCm39) |
V855M |
probably damaging |
Het |
| Heatr9 |
A |
T |
11: 83,409,618 (GRCm39) |
I118N |
possibly damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,469 (GRCm39) |
H137R |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,863,137 (GRCm39) |
S530G |
probably damaging |
Het |
| Klhdc4 |
T |
A |
8: 122,523,342 (GRCm39) |
M510L |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,724,013 (GRCm39) |
T204A |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,389,648 (GRCm39) |
V3129A |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,388,702 (GRCm39) |
T1120I |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,555,444 (GRCm39) |
I343T |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,867,445 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,260,087 (GRCm39) |
V420D |
probably damaging |
Het |
| Mta2 |
G |
T |
19: 8,927,747 (GRCm39) |
D523Y |
probably benign |
Het |
| Mtcl2 |
C |
T |
2: 156,864,776 (GRCm39) |
G1144D |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,576,670 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
C |
T |
6: 121,855,902 (GRCm39) |
Q965* |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,260,594 (GRCm39) |
I584N |
probably damaging |
Het |
| Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
| Nop56 |
G |
T |
2: 130,117,645 (GRCm39) |
V91L |
probably benign |
Het |
| Or5b99 |
A |
T |
19: 12,976,583 (GRCm39) |
M78L |
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,765 (GRCm39) |
L27Q |
probably damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,933 (GRCm39) |
V300A |
probably damaging |
Het |
| Osbpl3 |
T |
C |
6: 50,313,277 (GRCm39) |
E107G |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,195,751 (GRCm39) |
C146S |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,026,123 (GRCm39) |
M573V |
probably damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,774,113 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,612,021 (GRCm39) |
I374T |
possibly damaging |
Het |
| Ppig |
T |
A |
2: 69,571,830 (GRCm39) |
V183D |
unknown |
Het |
| Prom1 |
T |
G |
5: 44,194,876 (GRCm39) |
I290L |
probably benign |
Het |
| Rufy3 |
T |
A |
5: 88,785,085 (GRCm39) |
M387K |
probably damaging |
Het |
| Selenoo |
G |
A |
15: 88,978,387 (GRCm39) |
R270H |
probably damaging |
Het |
| Sema3d |
T |
A |
5: 12,558,054 (GRCm39) |
|
probably null |
Het |
| Sema6c |
C |
T |
3: 95,075,674 (GRCm39) |
T175I |
probably damaging |
Het |
| Serpina3k |
T |
C |
12: 104,307,305 (GRCm39) |
I179T |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,567,835 (GRCm39) |
T207A |
probably benign |
Het |
| Slc22a26 |
C |
A |
19: 7,779,546 (GRCm39) |
R90L |
probably damaging |
Het |
| Slitrk5 |
T |
C |
14: 111,917,648 (GRCm39) |
V424A |
probably damaging |
Het |
| Smarca2 |
G |
T |
19: 26,698,255 (GRCm39) |
E89* |
probably null |
Het |
| Stab2 |
T |
A |
10: 86,773,773 (GRCm39) |
S853C |
probably damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,306 (GRCm39) |
|
probably null |
Het |
| Taar5 |
T |
A |
10: 23,847,445 (GRCm39) |
I281N |
possibly damaging |
Het |
| Tars3 |
A |
T |
7: 65,308,683 (GRCm39) |
E284D |
probably damaging |
Het |
| Tbx15 |
C |
A |
3: 99,223,649 (GRCm39) |
T279K |
probably damaging |
Het |
| Tfr2 |
G |
A |
5: 137,585,187 (GRCm39) |
V740I |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,008,459 (GRCm39) |
T302A |
probably benign |
Het |
| Trappc14 |
T |
A |
5: 138,259,884 (GRCm39) |
T391S |
probably damaging |
Het |
| Trpa1 |
G |
T |
1: 14,946,085 (GRCm39) |
H1015Q |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,653,534 (GRCm39) |
Y10C |
possibly damaging |
Het |
| Ttll7 |
A |
G |
3: 146,600,224 (GRCm39) |
N44S |
probably damaging |
Het |
| Uba7 |
T |
C |
9: 107,857,038 (GRCm39) |
|
probably null |
Het |
| Ube2j2 |
G |
A |
4: 156,030,841 (GRCm39) |
M1I |
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,009,912 (GRCm39) |
A1022S |
probably benign |
Het |
| Usf1 |
T |
G |
1: 171,243,331 (GRCm39) |
I36S |
probably damaging |
Het |
| Vmn1r181 |
A |
T |
7: 23,683,790 (GRCm39) |
D85V |
probably damaging |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,009 (GRCm39) |
Y99* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,404,300 (GRCm39) |
I49M |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,582,397 (GRCm39) |
M1V |
probably null |
Het |
| Vsig10 |
T |
A |
5: 117,482,040 (GRCm39) |
V410E |
probably damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,663,334 (GRCm39) |
Y442C |
probably damaging |
Het |
| Zfyve26 |
G |
T |
12: 79,327,159 (GRCm39) |
Y730* |
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 |
|
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 |
|
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 |
|
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'- GCTTGGCAATGAGTTTCCAG -3'
(R):5'- AAGGATGTGACACCAAAGCC -3'
Sequencing Primer
(F):5'- GGCAATGAGTTTCCAGACTATG -3'
(R):5'- GGATGTGACACCAAAGCCTTTTAAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation