Incidental Mutation 'R3103:Ctnna2'
ID |
262895 |
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 |
040577-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R3103 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77630127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 122
(E122G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
AlphaFold |
Q61301 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075340
AA Change: E109G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000074809 Gene: ENSMUSG00000063063 AA Change: E109G
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: E109G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124376 Gene: ENSMUSG00000063063 AA Change: E109G
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: E122G
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124764 Gene: ENSMUSG00000063063 AA Change: E122G
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: E122G
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123714 Gene: ENSMUSG00000063063 AA Change: E122G
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: E109G
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124689 Gene: ENSMUSG00000063063 AA Change: E109G
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
A |
G |
7: 28,310,409 (GRCm39) |
|
probably null |
Het |
Adap2 |
G |
T |
11: 80,047,859 (GRCm39) |
C105F |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,223,201 (GRCm39) |
|
probably null |
Het |
Bpifc |
A |
G |
10: 85,829,286 (GRCm39) |
S94P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,044,459 (GRCm39) |
D347G |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,219,018 (GRCm39) |
V613A |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,093,667 (GRCm39) |
H6R |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,714,338 (GRCm39) |
T1956A |
probably benign |
Het |
Cep128 |
T |
A |
12: 90,986,118 (GRCm39) |
D1006V |
probably damaging |
Het |
Cog3 |
T |
C |
14: 75,984,641 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,967,405 (GRCm39) |
V3153M |
probably damaging |
Het |
Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
Ddx27 |
T |
A |
2: 166,868,166 (GRCm39) |
V333E |
probably damaging |
Het |
Dmpk |
A |
G |
7: 18,821,579 (GRCm39) |
Y279C |
probably damaging |
Het |
Dpagt1 |
A |
G |
9: 44,239,292 (GRCm39) |
I111V |
probably benign |
Het |
Dvl2 |
C |
A |
11: 69,899,695 (GRCm39) |
P546T |
possibly damaging |
Het |
Fat4 |
G |
T |
3: 38,946,089 (GRCm39) |
A1661S |
probably benign |
Het |
Gcm1 |
A |
G |
9: 77,971,734 (GRCm39) |
N225S |
probably damaging |
Het |
Gcnt2 |
A |
T |
13: 41,072,082 (GRCm39) |
M242L |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,715,211 (GRCm39) |
R226G |
probably damaging |
Het |
Gpr63 |
G |
A |
4: 25,007,353 (GRCm39) |
V26I |
probably benign |
Het |
Grik2 |
A |
G |
10: 49,116,868 (GRCm39) |
L631P |
probably damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,484 (GRCm39) |
D135G |
probably benign |
Het |
Il31ra |
C |
A |
13: 112,666,885 (GRCm39) |
V398F |
probably damaging |
Het |
Ipp |
G |
T |
4: 116,381,446 (GRCm39) |
R315L |
possibly damaging |
Het |
Kcmf1 |
A |
G |
6: 72,838,830 (GRCm39) |
L32P |
probably damaging |
Het |
Klf17 |
T |
A |
4: 117,617,805 (GRCm39) |
Q184L |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,262,328 (GRCm39) |
V4442I |
probably benign |
Het |
Lrrfip2 |
A |
T |
9: 111,051,278 (GRCm39) |
E293D |
probably damaging |
Het |
Oit3 |
A |
G |
10: 59,274,713 (GRCm39) |
I29T |
probably damaging |
Het |
Or1a1 |
G |
A |
11: 74,086,901 (GRCm39) |
D191N |
probably benign |
Het |
Or1j21 |
T |
C |
2: 36,683,574 (GRCm39) |
C109R |
possibly damaging |
Het |
Or51h1 |
T |
C |
7: 102,308,688 (GRCm39) |
V220A |
probably benign |
Het |
Plb1 |
T |
A |
5: 32,485,373 (GRCm39) |
M842K |
possibly damaging |
Het |
Ppt1 |
T |
C |
4: 122,730,100 (GRCm39) |
C18R |
probably benign |
Het |
Pstpip2 |
T |
C |
18: 77,959,477 (GRCm39) |
Y191H |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,774,373 (GRCm39) |
V2361I |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,305,338 (GRCm39) |
N238S |
probably benign |
Het |
Skor2 |
A |
T |
18: 76,946,973 (GRCm39) |
K232* |
probably null |
Het |
Slc13a5 |
A |
T |
11: 72,148,214 (GRCm39) |
W231R |
probably damaging |
Het |
Svs5 |
A |
T |
2: 164,175,313 (GRCm39) |
E55V |
probably benign |
Het |
Tfcp2 |
A |
T |
15: 100,423,481 (GRCm39) |
W142R |
probably damaging |
Het |
Trpc2 |
A |
T |
7: 101,744,441 (GRCm39) |
I738F |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,067 (GRCm39) |
S227T |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,386 (GRCm39) |
T1540A |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,962,561 (GRCm39) |
T74A |
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 |
|
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'- GCGAGCGTAACCAAGCTAAG -3'
(R):5'- AGACTTGAAAGCCCCTCTATG -3'
Sequencing Primer
(F):5'- GGAGTATATCCTTCCCAGCTG -3'
(R):5'- TGAAAGCCCCTCTATGATACTGG -3'
|
Posted On |
2015-02-05 |