Incidental Mutation 'R1924:Ctnna2'
| ID |
213273 |
| 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 |
039942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R1924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76931830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 590
(E590G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075340
AA Change: E590G
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: E590G
| 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: E590G
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: E590G
| 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: E603G
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: E603G
| 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: E603G
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: E603G
| 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 |
|
| Meta Mutation Damage Score |
0.1670 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
94% (63/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
A |
5: 114,368,781 (GRCm39) |
M1666I |
possibly damaging |
Het |
| Adamts13 |
A |
T |
2: 26,874,153 (GRCm39) |
Q434L |
probably damaging |
Het |
| Adgrg3 |
G |
A |
8: 95,762,562 (GRCm39) |
R204H |
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,073,324 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,987,101 (GRCm39) |
C251* |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,833,794 (GRCm39) |
N580K |
probably benign |
Het |
| C4b |
A |
G |
17: 34,948,631 (GRCm39) |
C1560R |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,334,880 (GRCm39) |
I809T |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,016,755 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,688,857 (GRCm39) |
S151G |
probably damaging |
Het |
| Capn1 |
T |
C |
19: 6,040,086 (GRCm39) |
|
probably null |
Het |
| Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,822,637 (GRCm39) |
D862G |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,061,979 (GRCm39) |
L237P |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,440,802 (GRCm39) |
I1120V |
possibly damaging |
Het |
| Chad |
A |
C |
11: 94,456,384 (GRCm39) |
N154T |
possibly damaging |
Het |
| Cog1 |
C |
T |
11: 113,547,038 (GRCm39) |
T544I |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,006,470 (GRCm39) |
T944S |
unknown |
Het |
| Dapk2 |
T |
A |
9: 66,072,642 (GRCm39) |
M6K |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,421,487 (GRCm39) |
E311G |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,809,641 (GRCm39) |
T779S |
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,916,744 (GRCm39) |
V644A |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,414,934 (GRCm39) |
V147A |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,357 (GRCm39) |
*157K |
probably null |
Het |
| Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
| Gmps |
T |
G |
3: 63,906,049 (GRCm39) |
C449G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,844,988 (GRCm39) |
S32P |
possibly damaging |
Het |
| Igkv1-115 |
A |
T |
6: 68,138,592 (GRCm39) |
D65V |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,859,105 (GRCm39) |
N41S |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,145,262 (GRCm39) |
D25E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,960 (GRCm39) |
R4426G |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myo5a |
G |
T |
9: 75,023,489 (GRCm39) |
D17Y |
probably damaging |
Het |
| Nat1 |
C |
G |
8: 67,944,076 (GRCm39) |
L154V |
probably benign |
Het |
| Nek3 |
T |
A |
8: 22,647,047 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2w25 |
G |
T |
11: 59,503,949 (GRCm39) |
R53L |
possibly damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,562 (GRCm39) |
D121G |
probably damaging |
Het |
| Or6c204 |
A |
G |
10: 129,023,044 (GRCm39) |
I82T |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,789,147 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,163 (GRCm39) |
E22D |
possibly damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,525 (GRCm39) |
L299P |
probably damaging |
Het |
| Osr1 |
T |
G |
12: 9,629,268 (GRCm39) |
L47R |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,291,053 (GRCm39) |
N493I |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,539,820 (GRCm39) |
N522K |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,385,771 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
A |
14: 64,268,992 (GRCm39) |
A1526E |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,291,878 (GRCm39) |
I1623F |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,437,428 (GRCm39) |
T104A |
probably benign |
Het |
| Sh3rf3 |
T |
C |
10: 58,939,989 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,245,748 (GRCm39) |
Y213H |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,106,563 (GRCm39) |
R955H |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,569,946 (GRCm39) |
Y307N |
probably damaging |
Het |
| Tnrc6b |
G |
T |
15: 80,768,407 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,936 (GRCm39) |
Y501H |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,191,914 (GRCm39) |
H315R |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,892,624 (GRCm39) |
Y142H |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,160,715 (GRCm39) |
S763P |
possibly 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 |
|
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 |
|
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'- TGCTTTGAGTCAAACATCTTCGC -3'
(R):5'- GTGGTAAGTGACACAAGATCAC -3'
Sequencing Primer
(F):5'- AAGACATTGAACATCTTGGGGGTCTC -3'
(R):5'- GTGACACAAGATCACTGAATTAGAC -3'
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| Posted On |
2014-07-14 |
Incidental Mutation