Incidental Mutation 'R6490:Ctnna2'
| ID |
522745 |
| 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 |
044622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77120892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 12
(I12T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075340
AA Change: I364T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: I364T
| 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: I364T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: I364T
| 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: I377T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: I377T
| 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: I377T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: I377T
| 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
AA Change: I12T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
AA Change: I12T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
2 |
232 |
2.9e-94 |
PFAM |
|
| Meta Mutation Damage Score |
0.0672 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
G |
8: 122,267,293 (GRCm39) |
K38T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,661 (GRCm39) |
T2803A |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,596,613 (GRCm39) |
D565G |
probably damaging |
Het |
| Adcy3 |
A |
G |
12: 4,262,150 (GRCm39) |
T1067A |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,251,819 (GRCm39) |
Y1921* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,149,757 (GRCm39) |
N1604D |
probably benign |
Het |
| Atxn7 |
A |
T |
14: 14,089,446 (GRCm38) |
R321* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,361,968 (GRCm39) |
I104N |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,747,619 (GRCm39) |
S413P |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,732,073 (GRCm39) |
C2024Y |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,262,448 (GRCm39) |
V1388E |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,876,090 (GRCm39) |
V544M |
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,255,301 (GRCm39) |
T199I |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,952,191 (GRCm39) |
L569* |
probably null |
Het |
| Dhx37 |
A |
G |
5: 125,496,196 (GRCm39) |
M754T |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,395 (GRCm39) |
S249T |
possibly damaging |
Het |
| Ell |
G |
T |
8: 71,025,553 (GRCm39) |
S59I |
probably damaging |
Het |
| Fam89a |
G |
A |
8: 125,467,982 (GRCm39) |
S110F |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,889,834 (GRCm39) |
F278V |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,427,398 (GRCm39) |
I427T |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,832,365 (GRCm39) |
D250G |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,546 (GRCm39) |
V194A |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,360 (GRCm39) |
|
probably null |
Het |
| Gm7995 |
A |
G |
14: 42,133,327 (GRCm39) |
K69R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,822,329 (GRCm39) |
T379A |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,147 (GRCm39) |
A570S |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,459,029 (GRCm39) |
I5192V |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,913,844 (GRCm39) |
I65F |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,236,992 (GRCm39) |
T1063K |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,466,930 (GRCm39) |
V381A |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,953,405 (GRCm39) |
D907G |
probably damaging |
Het |
| Jmjd8 |
T |
A |
17: 26,048,086 (GRCm39) |
V16E |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,387,449 (GRCm39) |
Y374C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,386,165 (GRCm39) |
V891I |
possibly damaging |
Het |
| Kif20a |
C |
A |
18: 34,762,543 (GRCm39) |
T472K |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,711,578 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,347,486 (GRCm39) |
S3070P |
unknown |
Het |
| Mettl21e |
T |
G |
1: 44,249,425 (GRCm39) |
Y77S |
probably damaging |
Het |
| Mlst8 |
G |
T |
17: 24,696,935 (GRCm39) |
D82E |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,617 (GRCm39) |
L67Q |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,750,237 (GRCm39) |
L1192Q |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,882,365 (GRCm39) |
Y520F |
unknown |
Het |
| Naip2 |
A |
T |
13: 100,297,193 (GRCm39) |
W948R |
probably benign |
Het |
| Nlrp9a |
A |
C |
7: 26,250,311 (GRCm39) |
K25N |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,212 (GRCm39) |
C414R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,274,374 (GRCm39) |
V142D |
possibly damaging |
Het |
| Or2aj6 |
C |
T |
16: 19,443,194 (GRCm39) |
V219M |
probably benign |
Het |
| P2ry6 |
T |
C |
7: 100,587,580 (GRCm39) |
T260A |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,771,196 (GRCm39) |
Q87R |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,727,086 (GRCm39) |
R557* |
probably null |
Het |
| Rgs13 |
G |
T |
1: 144,016,576 (GRCm39) |
H56N |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,189,111 (GRCm39) |
S537G |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,125,138 (GRCm39) |
L2624Q |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,610,954 (GRCm39) |
T23A |
probably benign |
Het |
| Tbl1xr1 |
C |
A |
3: 22,258,141 (GRCm39) |
H467Q |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,820,587 (GRCm39) |
S1222P |
possibly damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,759 (GRCm39) |
Q123H |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,463,862 (GRCm39) |
I379N |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,727,003 (GRCm39) |
I277F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,211 (GRCm39) |
|
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,615,003 (GRCm39) |
V245D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps53 |
A |
T |
11: 75,967,881 (GRCm39) |
M414K |
probably benign |
Het |
| Wrn |
T |
G |
8: 33,809,248 (GRCm39) |
L249F |
probably benign |
Het |
| Zc3h13 |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
14: 75,560,998 (GRCm39) |
|
probably benign |
Het |
| Zfp454 |
T |
C |
11: 50,764,950 (GRCm39) |
N161D |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,183,586 (GRCm39) |
G60R |
probably benign |
Het |
| Zfp623 |
T |
A |
15: 75,820,308 (GRCm39) |
H421Q |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,916,606 (GRCm39) |
|
probably benign |
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 |
|
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'- ATCCCATTTCTTGGCTCAGGAC -3'
(R):5'- TGACCTTAATGACCAAGCCATATTC -3'
Sequencing Primer
(F):5'- GGCTCAGGACTTTTCTAATTTCCAAC -3'
(R):5'- ATGACCAAGCCATATTCATAGAATAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation