Incidental Mutation 'R0423:Ctnna2'
ID |
186132 |
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 |
038625-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R0423 (G1)
|
Quality Score |
56 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77630052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 134
(V134E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
AlphaFold |
Q61301 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: V134E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074809 Gene: ENSMUSG00000063063 AA Change: V134E
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: V134E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124376 Gene: ENSMUSG00000063063 AA Change: V134E
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 damaging
Transcript: ENSMUST00000160894
AA Change: V147E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124764 Gene: ENSMUSG00000063063 AA Change: V147E
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: V147E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123714 Gene: ENSMUSG00000063063 AA Change: V147E
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 damaging
Transcript: ENSMUST00000162273
AA Change: V134E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124689 Gene: ENSMUSG00000063063 AA Change: V134E
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
Meta Mutation Damage Score |
0.8694 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.9%
|
Validation Efficiency |
99% (84/85) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
T |
7: 29,261,825 (GRCm39) |
|
noncoding transcript |
Het |
A630001G21Rik |
A |
G |
1: 85,654,187 (GRCm39) |
I50T |
probably benign |
Het |
Abhd12 |
T |
C |
2: 150,680,312 (GRCm39) |
T264A |
possibly damaging |
Het |
Acsm3 |
T |
C |
7: 119,376,382 (GRCm39) |
Y370H |
probably damaging |
Het |
Ank2 |
G |
T |
3: 126,723,509 (GRCm39) |
Y3789* |
probably null |
Het |
Anxa4 |
C |
T |
6: 86,737,719 (GRCm39) |
A1T |
probably damaging |
Het |
Apba1 |
T |
A |
19: 23,922,362 (GRCm39) |
V810D |
probably damaging |
Het |
Bank1 |
A |
G |
3: 135,989,778 (GRCm39) |
I104T |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 75,003,292 (GRCm39) |
Y4721H |
probably damaging |
Het |
Bmpr2 |
A |
G |
1: 59,907,669 (GRCm39) |
T921A |
probably benign |
Het |
Ccdc102a |
A |
C |
8: 95,632,554 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
C |
A |
2: 76,869,794 (GRCm39) |
D904Y |
probably damaging |
Het |
Ccdc96 |
A |
G |
5: 36,642,591 (GRCm39) |
K199R |
probably benign |
Het |
Cdh10 |
G |
A |
15: 18,986,965 (GRCm39) |
V399I |
probably benign |
Het |
Cenpk |
A |
G |
13: 104,370,733 (GRCm39) |
T85A |
probably benign |
Het |
Col6a2 |
A |
C |
10: 76,450,751 (GRCm39) |
V60G |
possibly damaging |
Het |
Cops7b |
A |
G |
1: 86,526,753 (GRCm39) |
D119G |
probably benign |
Het |
Cstf2t |
A |
G |
19: 31,061,676 (GRCm39) |
E404G |
possibly damaging |
Het |
Cwh43 |
A |
C |
5: 73,574,085 (GRCm39) |
M250L |
probably benign |
Het |
Daam2 |
T |
A |
17: 49,776,449 (GRCm39) |
K813* |
probably null |
Het |
Dhcr24 |
G |
A |
4: 106,443,733 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
G |
T |
17: 30,920,955 (GRCm39) |
R1182L |
probably benign |
Het |
Doc2a |
C |
T |
7: 126,447,830 (GRCm39) |
P25S |
probably damaging |
Het |
Dst |
A |
G |
1: 34,317,116 (GRCm39) |
S6823G |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,212,421 (GRCm39) |
L509* |
probably null |
Het |
Fbxw19 |
C |
T |
9: 109,315,134 (GRCm39) |
V143I |
probably benign |
Het |
Fbxw5 |
A |
G |
2: 25,394,538 (GRCm39) |
T171A |
possibly damaging |
Het |
Gfra2 |
C |
T |
14: 71,133,521 (GRCm39) |
T117M |
probably damaging |
Het |
Gm454 |
T |
A |
5: 138,202,403 (GRCm39) |
|
noncoding transcript |
Het |
Ilrun |
A |
C |
17: 28,005,207 (GRCm39) |
Y117D |
probably damaging |
Het |
Kcnq4 |
A |
G |
4: 120,574,705 (GRCm39) |
S120P |
probably damaging |
Het |
Krt84 |
A |
T |
15: 101,437,155 (GRCm39) |
L336Q |
probably damaging |
Het |
Lilra6 |
T |
A |
7: 3,917,774 (GRCm39) |
|
probably benign |
Het |
Mbnl2 |
G |
A |
14: 120,562,736 (GRCm39) |
R29H |
probably damaging |
Het |
Mcm3ap |
G |
A |
10: 76,338,539 (GRCm39) |
G1389D |
probably benign |
Het |
Mettl13 |
A |
T |
1: 162,371,954 (GRCm39) |
I305N |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,238,548 (GRCm39) |
S30P |
probably benign |
Het |
Myh7 |
T |
A |
14: 55,216,646 (GRCm39) |
Q1237L |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,802,619 (GRCm39) |
D2035E |
probably damaging |
Het |
Nat10 |
A |
G |
2: 103,578,572 (GRCm39) |
S211P |
probably damaging |
Het |
Ntm |
T |
C |
9: 29,090,395 (GRCm39) |
Y108C |
probably damaging |
Het |
Or14c39 |
T |
C |
7: 86,344,434 (GRCm39) |
Y257H |
possibly damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,248 (GRCm39) |
L149* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,613,422 (GRCm39) |
D794G |
probably benign |
Het |
Phlpp1 |
A |
G |
1: 106,267,345 (GRCm39) |
T753A |
probably benign |
Het |
Pierce1 |
T |
C |
2: 28,356,036 (GRCm39) |
|
probably benign |
Het |
Pnldc1 |
T |
C |
17: 13,108,963 (GRCm39) |
Q511R |
possibly damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,689,152 (GRCm39) |
S38P |
possibly damaging |
Het |
Pygb |
A |
G |
2: 150,665,904 (GRCm39) |
K593E |
probably benign |
Het |
Rangap1 |
A |
T |
15: 81,589,664 (GRCm39) |
F564I |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,803,381 (GRCm39) |
I498F |
possibly damaging |
Het |
Rnase12 |
A |
T |
14: 51,294,613 (GRCm39) |
V22D |
probably benign |
Het |
Rpl7l1 |
T |
A |
17: 47,091,324 (GRCm39) |
M93L |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,776,103 (GRCm39) |
R1396G |
possibly damaging |
Het |
Snx19 |
C |
A |
9: 30,347,133 (GRCm39) |
T692N |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,715,404 (GRCm39) |
D61G |
probably benign |
Het |
Spen |
T |
A |
4: 141,206,647 (GRCm39) |
N660I |
unknown |
Het |
Sptan1 |
T |
G |
2: 29,918,684 (GRCm39) |
C2246G |
probably null |
Het |
Svopl |
A |
G |
6: 38,013,642 (GRCm39) |
|
probably benign |
Het |
Taf2 |
A |
T |
15: 54,928,078 (GRCm39) |
N108K |
probably benign |
Het |
Thbs4 |
T |
C |
13: 92,893,079 (GRCm39) |
D703G |
probably damaging |
Het |
Tle6 |
G |
T |
10: 81,434,457 (GRCm39) |
N47K |
possibly damaging |
Het |
Usp48 |
G |
T |
4: 137,343,722 (GRCm39) |
V452L |
probably benign |
Het |
Ust |
A |
T |
10: 8,173,912 (GRCm39) |
S198T |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,248,894 (GRCm39) |
M386L |
possibly damaging |
Het |
Ywhaq |
T |
C |
12: 21,441,382 (GRCm39) |
|
probably benign |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
Zfp316 |
A |
G |
5: 143,238,993 (GRCm39) |
S1009P |
probably damaging |
Het |
Zfp963 |
A |
G |
8: 70,197,156 (GRCm39) |
Y29H |
probably damaging |
Het |
Zmym4 |
A |
G |
4: 126,776,112 (GRCm39) |
|
probably benign |
Het |
Zranb3 |
A |
G |
1: 128,019,607 (GRCm39) |
I45T |
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 |
R0379:Ctnna2
|
UTSW |
6 |
77,618,423 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ACAGTATGGTGGTACTCTGGGAAGC -3'
(R):5'- TCTGGCTGCAAGGAAATGATGAGAC -3'
Sequencing Primer
(F):5'- TACTCTGGGAAGCGAGCG -3'
(R):5'- TGAAAGCCCCTCTATGATACTGG -3'
|
Posted On |
2014-05-07 |