Incidental Mutation 'R7804:Ctnna2'
| ID |
600663 |
| 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 |
045859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R7804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77618357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 202
(V202I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075340
AA Change: V189I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: V189I
| 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: V189I
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: V189I
| 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: V202I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: V202I
| 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: V202I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: V202I
| 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: V189I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: V189I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (55/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
GTGTGTATGTGT |
GTGTGT |
11: 43,478,241 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,406,423 (GRCm39) |
C296S |
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,215,807 (GRCm39) |
L401P |
probably damaging |
Het |
| Cacnb2 |
C |
A |
2: 14,972,848 (GRCm39) |
P252T |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,873,153 (GRCm39) |
I352F |
probably benign |
Het |
| Dexi |
T |
C |
16: 10,360,349 (GRCm39) |
D69G |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,215,388 (GRCm39) |
E645G |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,551,841 (GRCm39) |
I2826T |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,610,235 (GRCm39) |
W1734R |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,728,666 (GRCm39) |
K287R |
probably damaging |
Het |
| Elovl5 |
A |
G |
9: 77,887,105 (GRCm39) |
|
probably null |
Het |
| Ess2 |
T |
A |
16: 17,729,031 (GRCm39) |
I47F |
probably damaging |
Het |
| Fam222b |
C |
A |
11: 78,044,979 (GRCm39) |
P180Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,901,888 (GRCm39) |
V3046I |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,565,068 (GRCm39) |
D387G |
probably damaging |
Het |
| Frmd5 |
A |
G |
2: 121,422,225 (GRCm39) |
Y33H |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,216,584 (GRCm39) |
L464H |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,489 (GRCm39) |
E1189G |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,894,510 (GRCm39) |
V1355A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,639,783 (GRCm39) |
S750C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,526,798 (GRCm39) |
D603G |
probably benign |
Het |
| Map4k3 |
A |
C |
17: 80,922,499 (GRCm39) |
V474G |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,475,787 (GRCm39) |
V167E |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,562,652 (GRCm39) |
V478A |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,796,700 (GRCm39) |
L487H |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,917 (GRCm39) |
R99H |
probably damaging |
Het |
| Or4c110 |
C |
G |
2: 88,831,855 (GRCm39) |
R259P |
unknown |
Het |
| Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
| Or6c76 |
A |
G |
10: 129,612,091 (GRCm39) |
I103V |
probably benign |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,132 (GRCm39) |
I320M |
probably damaging |
Het |
| Pi15 |
T |
A |
1: 17,695,137 (GRCm39) |
C251* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,460,534 (GRCm39) |
K4248* |
probably null |
Het |
| Prkg1 |
C |
T |
19: 30,556,032 (GRCm39) |
V625I |
probably benign |
Het |
| Prkg1 |
G |
A |
19: 30,602,170 (GRCm39) |
A362V |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,264 (GRCm39) |
T218I |
unknown |
Het |
| Ptpro |
G |
A |
6: 137,376,599 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,481 (GRCm39) |
I1326K |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,962,308 (GRCm39) |
R60S |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 86,909,774 (GRCm39) |
V648A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,096,223 (GRCm39) |
T895I |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,471 (GRCm39) |
E626G |
possibly damaging |
Het |
| Syngr2 |
C |
A |
11: 117,703,401 (GRCm39) |
S72R |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,069,809 (GRCm39) |
L490Q |
unknown |
Het |
| Tbc1d9 |
T |
C |
8: 83,963,341 (GRCm39) |
L351P |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Themis3 |
G |
A |
17: 66,862,605 (GRCm39) |
T451I |
probably benign |
Het |
| Tia1 |
T |
C |
6: 86,401,364 (GRCm39) |
S146P |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,441 (GRCm39) |
N946K |
probably benign |
Het |
| Tpr |
A |
T |
1: 150,308,310 (GRCm39) |
R1688S |
probably damaging |
Het |
| Trav12-1 |
A |
G |
14: 53,775,988 (GRCm39) |
Q47R |
possibly damaging |
Het |
| Ttll9 |
G |
A |
2: 152,844,278 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,537,585 (GRCm39) |
T34781M |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,298 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,707 (GRCm39) |
D84G |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,010,387 (GRCm39) |
I554T |
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 |
|
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 |
|
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'- CAGTGAAAAGTGGTGCTCTGTG -3'
(R):5'- AAGATACCATTGGTAGCATGCTC -3'
Sequencing Primer
(F):5'- GCTCTGTGATCTATAGGCAGCAAC -3'
(R):5'- TCTATTTCAGGTCGAGGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation