Incidental Mutation 'R5847:Ctnna2'
| ID |
453669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctnna2
|
| Ensembl Gene |
ENSMUSG00000063063 |
| Gene Name |
catenin (cadherin associated protein), alpha 2 |
| Synonyms |
chp, Catna, alpha N-catenin, alpha(N)-catenin, Catna2 |
| MMRRC Submission |
044065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R5847 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76881637-77979699 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76973837 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 550
(D550E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075340
AA Change: D537E
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: D537E
| 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: D537E
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: D537E
| 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: D550E
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: D550E
| 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: D550E
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: D550E
| 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: ENSMUST00000204527
AA Change: D185E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
AA Change: D185E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
2 |
232 |
2.9e-94 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (62/62) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600015I10Rik |
T |
A |
6: 48,933,478 (GRCm38) |
F701L |
probably damaging |
Het |
| 4931409K22Rik |
A |
T |
5: 24,544,166 (GRCm38) |
L778Q |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,426,777 (GRCm38) |
Y964F |
probably damaging |
Het |
| Akap3 |
T |
A |
6: 126,865,558 (GRCm38) |
L380Q |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,680,074 (GRCm38) |
I760T |
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,824,976 (GRCm38) |
|
probably benign |
Het |
| Cacng3 |
T |
C |
7: 122,762,309 (GRCm38) |
F113S |
possibly damaging |
Het |
| Ccdc158 |
G |
T |
5: 92,627,480 (GRCm38) |
N955K |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,116,845 (GRCm38) |
M368L |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,527,946 (GRCm38) |
T18A |
probably damaging |
Het |
| Cyp2c37 |
C |
T |
19: 40,011,732 (GRCm38) |
R433W |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,199,188 (GRCm38) |
S103P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,101,601 (GRCm38) |
|
probably benign |
Het |
| Dnah9 |
CAGTTGCTTAAA |
CA |
11: 66,095,240 (GRCm38) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,621,251 (GRCm38) |
Y23C |
probably damaging |
Het |
| Edar |
T |
A |
10: 58,603,179 (GRCm38) |
S344C |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,030,055 (GRCm38) |
V2431A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,404,724 (GRCm38) |
|
probably benign |
Het |
| Idh3b |
A |
T |
2: 130,284,028 (GRCm38) |
D41E |
probably benign |
Het |
| Igkv8-24 |
A |
T |
6: 70,216,972 (GRCm38) |
V84D |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,684,055 (GRCm38) |
I1118T |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,482,925 (GRCm38) |
V1116A |
probably damaging |
Het |
| Myoc |
A |
G |
1: 162,639,367 (GRCm38) |
Y35C |
probably damaging |
Het |
| Ncr1 |
A |
T |
7: 4,344,574 (GRCm38) |
D246V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 104,003,037 (GRCm38) |
E86G |
probably damaging |
Het |
| Olfr1097 |
A |
C |
2: 86,890,332 (GRCm38) |
V281G |
probably damaging |
Het |
| Olfr168 |
A |
T |
16: 19,530,326 (GRCm38) |
V198E |
probably damaging |
Het |
| Olfr678 |
A |
T |
7: 105,069,857 (GRCm38) |
Y130F |
probably benign |
Het |
| Pbld1 |
A |
T |
10: 63,076,414 (GRCm38) |
I275L |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,665,631 (GRCm38) |
V574A |
possibly damaging |
Het |
| Pdxk |
G |
T |
10: 78,445,038 (GRCm38) |
D189E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,374,736 (GRCm38) |
E2276* |
probably null |
Het |
| Ppp1r10 |
A |
G |
17: 35,926,847 (GRCm38) |
N237S |
possibly damaging |
Het |
| Rheb |
T |
A |
5: 24,807,069 (GRCm38) |
Y131F |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,304,985 (GRCm38) |
D88G |
probably damaging |
Het |
| Scgb2b33 |
T |
C |
7: 33,112,814 (GRCm38) |
|
noncoding transcript |
Het |
| Snx9 |
C |
A |
17: 5,924,621 (GRCm38) |
N461K |
possibly damaging |
Het |
| Tbc1d2b |
C |
A |
9: 90,209,724 (GRCm38) |
V842F |
probably damaging |
Het |
| Tgfbi |
G |
A |
13: 56,636,605 (GRCm38) |
E615K |
possibly damaging |
Het |
| Tmem51 |
A |
G |
4: 142,032,035 (GRCm38) |
M134T |
probably damaging |
Het |
| Tox4 |
A |
G |
14: 52,286,784 (GRCm38) |
D125G |
probably damaging |
Het |
| Trappc3 |
A |
T |
4: 126,273,978 (GRCm38) |
N110I |
probably damaging |
Het |
| Trim11 |
T |
A |
11: 58,990,593 (GRCm38) |
D437E |
probably damaging |
Het |
| Ttc23l |
T |
C |
15: 10,537,596 (GRCm38) |
N196S |
probably benign |
Het |
| Wnk1 |
C |
A |
6: 119,992,408 (GRCm38) |
G362V |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,867,326 (GRCm38) |
F731S |
probably damaging |
Het |
| Wwp1 |
A |
T |
4: 19,662,174 (GRCm38) |
D140E |
possibly damaging |
Het |
| Zfp24 |
G |
A |
18: 24,018,038 (GRCm38) |
P17L |
possibly damaging |
Het |
| Zfp354b |
T |
C |
11: 50,923,216 (GRCm38) |
E294G |
probably damaging |
Het |
| Zfp853 |
C |
T |
5: 143,288,669 (GRCm38) |
V399M |
unknown |
Het |
| Zfp868 |
T |
C |
8: 69,611,652 (GRCm38) |
H344R |
probably damaging |
Het |
|
| Other mutations in Ctnna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Ctnna2
|
APN |
6 |
76,980,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00573:Ctnna2
|
APN |
6 |
76,902,281 (GRCm38) |
intron |
probably benign |
|
|
IGL01290:Ctnna2
|
APN |
6 |
76,882,560 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01719:Ctnna2
|
APN |
6 |
77,636,975 (GRCm38) |
nonsense |
probably null |
|
|
IGL01725:Ctnna2
|
APN |
6 |
77,641,365 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02381:Ctnna2
|
APN |
6 |
76,954,783 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02561:Ctnna2
|
APN |
6 |
77,845,580 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02653:Ctnna2
|
APN |
6 |
76,980,777 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02658:Ctnna2
|
APN |
6 |
76,980,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02721:Ctnna2
|
APN |
6 |
76,981,869 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03075:Ctnna2
|
APN |
6 |
76,954,730 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL03291:Ctnna2
|
APN |
6 |
76,973,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0379:Ctnna2
|
UTSW |
6 |
77,641,440 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0423:Ctnna2
|
UTSW |
6 |
77,653,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0539:Ctnna2
|
UTSW |
6 |
76,973,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0540:Ctnna2
|
UTSW |
6 |
76,902,430 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0545:Ctnna2
|
UTSW |
6 |
77,605,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0559:Ctnna2
|
UTSW |
6 |
76,915,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0582:Ctnna2
|
UTSW |
6 |
77,758,417 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0607:Ctnna2
|
UTSW |
6 |
76,902,430 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1318:Ctnna2
|
UTSW |
6 |
76,882,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1754:Ctnna2
|
UTSW |
6 |
77,636,749 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1838:Ctnna2
|
UTSW |
6 |
77,845,542 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1924:Ctnna2
|
UTSW |
6 |
76,954,847 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1969:Ctnna2
|
UTSW |
6 |
77,758,500 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2011:Ctnna2
|
UTSW |
6 |
76,973,791 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R2867:Ctnna2
|
UTSW |
6 |
77,114,922 (GRCm38) |
splice site |
probably benign |
|
|
R3103:Ctnna2
|
UTSW |
6 |
77,653,144 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R3772:Ctnna2
|
UTSW |
6 |
76,973,769 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3809:Ctnna2
|
UTSW |
6 |
76,954,757 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4023:Ctnna2
|
UTSW |
6 |
77,636,844 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4024:Ctnna2
|
UTSW |
6 |
77,636,844 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4025:Ctnna2
|
UTSW |
6 |
77,636,844 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4026:Ctnna2
|
UTSW |
6 |
77,636,844 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4288:Ctnna2
|
UTSW |
6 |
77,605,221 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4291:Ctnna2
|
UTSW |
6 |
76,882,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4493:Ctnna2
|
UTSW |
6 |
76,981,848 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4561:Ctnna2
|
UTSW |
6 |
77,636,713 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4824:Ctnna2
|
UTSW |
6 |
76,980,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:Ctnna2
|
UTSW |
6 |
77,653,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4999:Ctnna2
|
UTSW |
6 |
76,915,762 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5041:Ctnna2
|
UTSW |
6 |
76,915,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5093:Ctnna2
|
UTSW |
6 |
77,114,929 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5411:Ctnna2
|
UTSW |
6 |
77,114,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5874:Ctnna2
|
UTSW |
6 |
76,902,430 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5935:Ctnna2
|
UTSW |
6 |
77,143,921 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6008:Ctnna2
|
UTSW |
6 |
76,915,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6115:Ctnna2
|
UTSW |
6 |
77,636,839 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6369:Ctnna2
|
UTSW |
6 |
76,980,695 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6490:Ctnna2
|
UTSW |
6 |
77,143,909 (GRCm38) |
missense |
probably benign |
|
|
R7021:Ctnna2
|
UTSW |
6 |
77,636,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7152:Ctnna2
|
UTSW |
6 |
76,980,824 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7662:Ctnna2
|
UTSW |
6 |
77,636,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7804:Ctnna2
|
UTSW |
6 |
77,641,374 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7935:Ctnna2
|
UTSW |
6 |
76,942,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8479:Ctnna2
|
UTSW |
6 |
77,758,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8698:Ctnna2
|
UTSW |
6 |
77,653,117 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8829:Ctnna2
|
UTSW |
6 |
77,605,222 (GRCm38) |
nonsense |
probably null |
|
|
R9054:Ctnna2
|
UTSW |
6 |
76,942,266 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9142:Ctnna2
|
UTSW |
6 |
76,902,440 (GRCm38) |
intron |
probably benign |
|
|
R9173:Ctnna2
|
UTSW |
6 |
76,919,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9776:Ctnna2
|
UTSW |
6 |
77,605,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Ctnna2
|
UTSW |
6 |
77,641,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Ctnna2
|
UTSW |
6 |
76,980,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ctnna2
|
UTSW |
6 |
76,973,781 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
Z1177:Ctnna2
|
UTSW |
6 |
77,758,554 (GRCm38) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCTGGTATCCAAATCCAAACTC -3'
(R):5'- TTCTAAGGTGAGGACTCATGGG -3'
Sequencing Primer
(F):5'- GAAGATAATGAAACTGCTGTGTTCAG -3'
(R):5'- CTCATGGGAGTTGTTGAAATGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation