Incidental Mutation 'R7935:Ctnna2'
| ID |
648674 |
| 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 |
045981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R7935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76919270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 656
(E656G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: E643G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: E643G
| 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: E643G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: E643G
| 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: E656G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: E656G
| 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: E656G
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: E656G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,308,732 (GRCm39) |
V124A |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,904,186 (GRCm39) |
M746V |
possibly damaging |
Het |
| Aldh18a1 |
G |
T |
19: 40,562,226 (GRCm39) |
S266* |
probably null |
Het |
| Aldh1b1 |
C |
A |
4: 45,802,968 (GRCm39) |
H169N |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,476,709 (GRCm39) |
I756T |
possibly damaging |
Het |
| Asb16 |
A |
T |
11: 102,168,739 (GRCm39) |
E405V |
probably benign |
Het |
| B4galnt1 |
T |
A |
10: 127,007,490 (GRCm39) |
F464I |
probably damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,975 (GRCm39) |
I225V |
probably benign |
Het |
| Brox |
T |
C |
1: 183,062,484 (GRCm39) |
E290G |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,020,333 (GRCm39) |
V790D |
possibly damaging |
Het |
| Cacng6 |
G |
T |
7: 3,473,384 (GRCm39) |
K69N |
possibly damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,895,344 (GRCm39) |
I503T |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,852,205 (GRCm39) |
N814D |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,706,840 (GRCm39) |
M1108L |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,149,373 (GRCm39) |
N449S |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,018,048 (GRCm39) |
M149K |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,944,262 (GRCm39) |
M10L |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,329,486 (GRCm39) |
L4838P |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,824,082 (GRCm39) |
I55N |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 148,858,017 (GRCm39) |
L78P |
unknown |
Het |
| Gulo |
T |
G |
14: 66,237,288 (GRCm39) |
K200Q |
probably benign |
Het |
| Jmjd8 |
T |
A |
17: 26,048,071 (GRCm39) |
L56Q |
probably benign |
Het |
| Kansl1 |
G |
T |
11: 104,315,112 (GRCm39) |
Q309K |
probably damaging |
Het |
| Kcns3 |
A |
C |
12: 11,141,718 (GRCm39) |
L327R |
probably damaging |
Het |
| Mapk10 |
A |
G |
5: 103,139,792 (GRCm39) |
I153T |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,400,569 (GRCm39) |
M513I |
unknown |
Het |
| Nbea |
A |
G |
3: 55,966,086 (GRCm39) |
F459L |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,631,644 (GRCm39) |
V1066I |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,651,538 (GRCm39) |
K178E |
probably damaging |
Het |
| Or4b1 |
C |
T |
2: 89,979,928 (GRCm39) |
V141M |
probably benign |
Het |
| Or5au1 |
T |
C |
14: 52,272,645 (GRCm39) |
K308E |
probably benign |
Het |
| Or5d14 |
G |
A |
2: 87,880,290 (GRCm39) |
T226M |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,191,837 (GRCm39) |
A649V |
probably benign |
Het |
| Parp12 |
C |
A |
6: 39,079,612 (GRCm39) |
K299N |
possibly damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,562 (GRCm39) |
D523G |
possibly damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,330 (GRCm39) |
T79A |
probably benign |
Het |
| Ppp1r7 |
T |
C |
1: 93,273,904 (GRCm39) |
S27P |
probably damaging |
Het |
| Pramel42 |
G |
T |
5: 94,685,440 (GRCm39) |
D367Y |
probably damaging |
Het |
| Prol1 |
T |
G |
5: 88,475,874 (GRCm39) |
L88R |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,425 (GRCm39) |
Q57R |
possibly damaging |
Het |
| Rdh16 |
A |
G |
10: 127,637,334 (GRCm39) |
I90V |
probably benign |
Het |
| Rock2 |
T |
A |
12: 16,998,558 (GRCm39) |
C275S |
probably damaging |
Het |
| Rp1l1 |
G |
T |
14: 64,268,674 (GRCm39) |
R1420L |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,033,481 (GRCm39) |
Y21H |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,612,749 (GRCm39) |
N536S |
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,964,421 (GRCm39) |
F339V |
probably damaging |
Het |
| Slc6a13 |
T |
G |
6: 121,311,450 (GRCm39) |
L369V |
possibly damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,801,024 (GRCm39) |
F128I |
probably damaging |
Het |
| Smok2a |
A |
T |
17: 13,444,599 (GRCm39) |
I59F |
probably damaging |
Het |
| Spaca9 |
A |
G |
2: 28,583,634 (GRCm39) |
|
probably null |
Het |
| Ssx2ip |
A |
T |
3: 146,124,928 (GRCm39) |
E84D |
probably benign |
Het |
| Syt12 |
A |
T |
19: 4,497,830 (GRCm39) |
V384E |
probably benign |
Het |
| Ticrr |
T |
A |
7: 79,331,584 (GRCm39) |
L727Q |
probably damaging |
Het |
| Tmem170b |
A |
G |
13: 41,781,463 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,201 (GRCm39) |
T161A |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp512b |
T |
C |
2: 181,231,689 (GRCm39) |
T164A |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,549 (GRCm39) |
P955S |
probably damaging |
Het |
| Zfp770 |
C |
T |
2: 114,027,305 (GRCm39) |
V255I |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,208 (GRCm39) |
C140* |
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 |
|
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 |
|
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'- GTGCATTGAAGCAGACGAC -3'
(R):5'- AATTGGGGCAGTATGGTTCC -3'
Sequencing Primer
(F):5'- CCCAGACCAGTAAAGGATATTTGTGC -3'
(R):5'- GGGCAGTATGGTTCCTATAATTTTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation