Incidental Mutation 'R7021:Ctnna2'
| ID |
545623 |
| 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 |
045122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R7021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77613888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 221
(Y221C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: Y221C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: Y221C
| 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: Y221C
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: Y221C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
3.4e-105 |
PFAM |
|
Pfam:Vinculin
|
330 |
914 |
6.6e-214 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160894
AA Change: Y234C
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: Y234C
| 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: Y234C
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: Y234C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
31 |
350 |
5.3e-105 |
PFAM |
|
Pfam:Vinculin
|
344 |
879 |
2.1e-222 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162273
AA Change: Y221C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: Y221C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (75/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
C |
4: 144,442,062 (GRCm39) |
L63R |
probably damaging |
Het |
| Abcb5 |
C |
T |
12: 118,895,660 (GRCm39) |
V379I |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,832,776 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,318,154 (GRCm39) |
S37P |
possibly damaging |
Het |
| Arnt2 |
A |
T |
7: 83,993,150 (GRCm39) |
L130H |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,355,618 (GRCm39) |
F533I |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,964,143 (GRCm39) |
V439A |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,796,978 (GRCm39) |
V127A |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,073,632 (GRCm39) |
T253A |
probably benign |
Het |
| Btd |
A |
G |
14: 31,389,788 (GRCm39) |
D503G |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,924,804 (GRCm39) |
E646G |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,461,205 (GRCm39) |
W150L |
probably damaging |
Het |
| Cdk11b |
A |
T |
4: 155,726,024 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,768,149 (GRCm39) |
E203G |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,063 (GRCm39) |
E1675G |
possibly damaging |
Het |
| Copg1 |
T |
A |
6: 87,871,087 (GRCm39) |
Y268N |
possibly damaging |
Het |
| Csnk2a1 |
T |
A |
2: 152,102,732 (GRCm39) |
H126Q |
probably damaging |
Het |
| Ctbs |
G |
A |
3: 146,160,703 (GRCm39) |
G90D |
probably damaging |
Het |
| Cypt12 |
C |
T |
3: 18,002,635 (GRCm39) |
R3C |
unknown |
Het |
| D630003M21Rik |
A |
T |
2: 158,058,670 (GRCm39) |
M410K |
possibly damaging |
Het |
| Dnah9 |
A |
T |
11: 65,872,057 (GRCm39) |
N2724K |
probably benign |
Het |
| Dok3 |
T |
C |
13: 55,672,097 (GRCm39) |
T194A |
probably benign |
Het |
| Edem3 |
T |
G |
1: 151,631,423 (GRCm39) |
S36A |
probably benign |
Het |
| Eed |
C |
T |
7: 89,629,727 (GRCm39) |
E3K |
possibly damaging |
Het |
| Efcab2 |
A |
G |
1: 178,308,925 (GRCm39) |
I143V |
probably benign |
Het |
| Ensa |
A |
T |
3: 95,534,359 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
A |
T |
12: 80,626,826 (GRCm39) |
E219V |
probably damaging |
Het |
| Gfra3 |
C |
A |
18: 34,823,933 (GRCm39) |
R347L |
probably benign |
Het |
| Gm2042 |
T |
A |
12: 87,927,009 (GRCm39) |
I442K |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,691 (GRCm39) |
D735V |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,580 (GRCm39) |
S2253P |
possibly damaging |
Het |
| Kit |
T |
C |
5: 75,781,627 (GRCm39) |
I352T |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,821 (GRCm39) |
V179E |
possibly damaging |
Het |
| Lctl |
T |
A |
9: 64,040,075 (GRCm39) |
|
probably null |
Het |
| Lman1 |
C |
A |
18: 66,124,714 (GRCm39) |
V342L |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,522 (GRCm39) |
L529P |
probably damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,793 (GRCm39) |
I69T |
probably benign |
Het |
| Mapkapk5 |
G |
T |
5: 121,665,274 (GRCm39) |
A327E |
probably benign |
Het |
| Mex3b |
G |
T |
7: 82,519,080 (GRCm39) |
R465L |
possibly damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,289 (GRCm39) |
R168G |
possibly damaging |
Het |
| Mkks |
A |
G |
2: 136,718,007 (GRCm39) |
|
probably null |
Het |
| Muc16 |
G |
T |
9: 18,466,215 (GRCm39) |
H7368N |
unknown |
Het |
| Muc16 |
T |
C |
9: 18,462,127 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
C |
3: 98,042,762 (GRCm39) |
S1376P |
probably benign |
Het |
| Obox5 |
A |
G |
7: 15,491,681 (GRCm39) |
|
probably null |
Het |
| Or10j5 |
T |
C |
1: 172,784,494 (GRCm39) |
I44T |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,899 (GRCm39) |
I11N |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,628,593 (GRCm39) |
V962E |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,647 (GRCm39) |
Q465R |
probably damaging |
Het |
| Pla1a |
A |
G |
16: 38,221,244 (GRCm39) |
I372T |
probably damaging |
Het |
| Prmt5 |
A |
C |
14: 54,752,845 (GRCm39) |
F122C |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,111,498 (GRCm39) |
S1905T |
probably damaging |
Het |
| Ptprf |
T |
G |
4: 118,081,101 (GRCm39) |
K1163N |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,775,283 (GRCm39) |
V25A |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,597,300 (GRCm39) |
|
probably null |
Het |
| Rnf180 |
T |
C |
13: 105,407,429 (GRCm39) |
E40G |
probably benign |
Het |
| Rpl6 |
T |
A |
5: 121,346,972 (GRCm39) |
M289K |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 38,963,321 (GRCm39) |
F167L |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,188,205 (GRCm39) |
|
probably null |
Het |
| Sppl2a |
A |
G |
2: 126,769,663 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
T |
A |
2: 61,637,688 (GRCm39) |
D82E |
probably benign |
Het |
| Tbx10 |
A |
T |
19: 4,048,961 (GRCm39) |
T291S |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,056 (GRCm39) |
H507L |
possibly damaging |
Het |
| Trim37 |
A |
C |
11: 87,058,335 (GRCm39) |
T338P |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,630,204 (GRCm39) |
T629A |
probably benign |
Het |
| Ttc14 |
T |
A |
3: 33,857,646 (GRCm39) |
I249N |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,450 (GRCm39) |
T661A |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,587 (GRCm39) |
I156T |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,905 (GRCm39) |
N861D |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,422,213 (GRCm39) |
C2802R |
unknown |
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 |
|
|
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'- TCAAACTCATTCAGGGCTGC -3'
(R):5'- CTCTGGCAGCTAGAAATATTACAAGGG -3'
Sequencing Primer
(F):5'- CAGCCAGCTCGCCGATG -3'
(R):5'- GGAGAAGGGGGTTTCTAAAATCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation