Incidental Mutation 'R0545:Ctnna2'
| ID |
44754 |
| 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 |
038737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77582165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 352
(N352I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: N352I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: N352I
| 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: N352I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: N352I
| 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: N365I
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: N365I
| 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 damaging
Transcript: ENSMUST00000161846
AA Change: N365I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: N365I
| 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 damaging
Transcript: ENSMUST00000162273
AA Change: N352I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: N352I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
| Meta Mutation Damage Score |
0.2692 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (66/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
C |
T |
2: 19,547,187 (GRCm39) |
R76H |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,616 (GRCm39) |
I598V |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,311,025 (GRCm39) |
N63D |
probably damaging |
Het |
| Alkbh7 |
C |
T |
17: 57,306,012 (GRCm39) |
R138* |
probably null |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,782 (GRCm39) |
H300R |
probably benign |
Het |
| BC051076 |
C |
T |
5: 88,111,349 (GRCm39) |
|
noncoding transcript |
Het |
| Bltp1 |
G |
A |
3: 37,041,839 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
A |
2: 154,103,870 (GRCm39) |
C104* |
probably null |
Het |
| Cacna2d2 |
T |
C |
9: 107,402,422 (GRCm39) |
L826P |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,913,447 (GRCm39) |
D526G |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,070 (GRCm39) |
T1861S |
probably benign |
Het |
| Ces2f |
A |
C |
8: 105,676,668 (GRCm39) |
M121L |
possibly damaging |
Het |
| Cfap58 |
G |
A |
19: 47,929,536 (GRCm39) |
|
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,795,322 (GRCm39) |
S282P |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
| Cma2 |
A |
T |
14: 56,210,570 (GRCm39) |
M86L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,903,496 (GRCm39) |
M134K |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,842,420 (GRCm39) |
D1446G |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,381,278 (GRCm39) |
D512V |
probably damaging |
Het |
| Cyp2c69 |
A |
C |
19: 39,875,105 (GRCm39) |
L16R |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,076,443 (GRCm39) |
S603P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,215,217 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,378,955 (GRCm39) |
S270P |
probably damaging |
Het |
| F10 |
T |
A |
8: 13,098,249 (GRCm39) |
C151S |
probably damaging |
Het |
| Gpr180 |
T |
G |
14: 118,397,458 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Gstp2 |
T |
C |
19: 4,091,633 (GRCm39) |
E32G |
possibly damaging |
Het |
| Ikzf5 |
T |
C |
7: 130,994,229 (GRCm39) |
T133A |
possibly damaging |
Het |
| Itch |
G |
T |
2: 155,024,218 (GRCm39) |
G274* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,694,758 (GRCm39) |
S1295T |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,719,987 (GRCm39) |
L255P |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,077,328 (GRCm39) |
D197G |
probably benign |
Het |
| Mfap2 |
A |
G |
4: 140,741,496 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
A |
G |
8: 36,056,202 (GRCm39) |
K226E |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,386,020 (GRCm39) |
R548G |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,633 (GRCm39) |
N34S |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,497,276 (GRCm39) |
T182A |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,074,319 (GRCm39) |
F743L |
possibly damaging |
Het |
| Notch4 |
A |
C |
17: 34,802,407 (GRCm39) |
D1276A |
probably damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,843 (GRCm39) |
Y118* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,873 (GRCm39) |
C76R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,218 (GRCm39) |
C74S |
probably damaging |
Het |
| Or6d15 |
T |
A |
6: 116,559,617 (GRCm39) |
I97L |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,567 (GRCm39) |
T353S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,357 (GRCm39) |
T827A |
probably benign |
Het |
| Prlr |
C |
T |
15: 10,317,652 (GRCm39) |
T40I |
probably damaging |
Het |
| Psme3 |
T |
C |
11: 101,210,730 (GRCm39) |
|
probably benign |
Het |
| Pygb |
A |
T |
2: 150,657,626 (GRCm39) |
D363V |
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,788,871 (GRCm39) |
Q68* |
probably null |
Het |
| Serpini2 |
A |
G |
3: 75,165,445 (GRCm39) |
V178A |
probably benign |
Het |
| Sh2d2a |
T |
C |
3: 87,759,195 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
C |
4: 111,837,395 (GRCm39) |
M58L |
probably benign |
Het |
| Slco3a1 |
G |
T |
7: 73,970,301 (GRCm39) |
Y435* |
probably null |
Het |
| Stk17b |
T |
C |
1: 53,801,742 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,938,992 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,865 (GRCm39) |
L811Q |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,594,961 (GRCm39) |
M912L |
probably benign |
Het |
| Vmn2r98 |
G |
T |
17: 19,273,875 (GRCm39) |
V41F |
probably benign |
Het |
| Washc5 |
C |
T |
15: 59,213,942 (GRCm39) |
C838Y |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,990,796 (GRCm39) |
T352A |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,394,439 (GRCm39) |
C4467G |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,970,197 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,768,345 (GRCm39) |
C628F |
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 |
|
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 |
|
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'- AAGAGTCAGAGCACAGGTTTCCCC -3'
(R):5'- GCGACAAAGGCGGTGTAACTATTTC -3'
Sequencing Primer
(F):5'- CCAAGTGGTCCTTTGGTGAAAC -3'
(R):5'- acatttatagggagggggaaaaac -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation