Incidental Mutation 'R1838:Ctnna2'
ID |
205484 |
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 |
039865-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R1838 (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 77822525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 26
(D26G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000162273]
|
AlphaFold |
Q61301 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: D13G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000074809 Gene: ENSMUSG00000063063 AA Change: D13G
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: D13G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124376 Gene: ENSMUSG00000063063 AA Change: D13G
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: D26G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124764 Gene: ENSMUSG00000063063 AA Change: D26G
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: D26G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123714 Gene: ENSMUSG00000063063 AA Change: D26G
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: ENSMUST00000162273
AA Change: D13G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124689 Gene: ENSMUSG00000063063 AA Change: D13G
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
18 |
356 |
1.8e-106 |
PFAM |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.4%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
T |
C |
6: 132,603,690 (GRCm39) |
D22G |
unknown |
Het |
Abca4 |
G |
A |
3: 121,921,954 (GRCm39) |
R1170K |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,876,659 (GRCm39) |
N197S |
possibly damaging |
Het |
Adamtsl3 |
G |
T |
7: 82,142,581 (GRCm39) |
R267L |
probably damaging |
Het |
Adgrb2 |
A |
T |
4: 129,904,024 (GRCm39) |
T717S |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,123,351 (GRCm39) |
S1417P |
probably damaging |
Het |
Afg3l2 |
A |
T |
18: 67,547,242 (GRCm39) |
V561D |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,721,643 (GRCm39) |
Y244* |
probably null |
Het |
BB014433 |
C |
G |
8: 15,092,629 (GRCm39) |
V75L |
unknown |
Het |
Btnl6 |
T |
A |
17: 34,734,516 (GRCm39) |
D82V |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,695 (GRCm39) |
Y421H |
probably damaging |
Het |
Cdc123 |
A |
T |
2: 5,799,702 (GRCm39) |
|
probably null |
Het |
Cdhr5 |
C |
T |
7: 140,852,516 (GRCm39) |
V367I |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,707,105 (GRCm39) |
H1196R |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,442,340 (GRCm39) |
S2077G |
probably benign |
Het |
Col6a5 |
G |
A |
9: 105,742,032 (GRCm39) |
H2296Y |
probably benign |
Het |
Ctr9 |
G |
T |
7: 110,651,510 (GRCm39) |
R910L |
possibly damaging |
Het |
Cyp2t4 |
G |
T |
7: 26,857,841 (GRCm39) |
R455L |
possibly damaging |
Het |
Cyp3a13 |
A |
T |
5: 137,909,894 (GRCm39) |
|
probably null |
Het |
Dennd3 |
T |
C |
15: 73,436,949 (GRCm39) |
S1059P |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,743,415 (GRCm39) |
T1135A |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,155,337 (GRCm39) |
V295A |
probably benign |
Het |
Dnah7b |
C |
A |
1: 46,316,265 (GRCm39) |
T3126K |
probably damaging |
Het |
Ehbp1l1 |
C |
T |
19: 5,767,719 (GRCm39) |
E1195K |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,830,660 (GRCm39) |
I447L |
probably benign |
Het |
Glt1d1 |
G |
A |
5: 127,755,193 (GRCm39) |
V202I |
probably benign |
Het |
Grk1 |
T |
C |
8: 13,466,155 (GRCm39) |
V533A |
possibly damaging |
Het |
Gsdma3 |
C |
T |
11: 98,520,684 (GRCm39) |
A105V |
probably benign |
Het |
Gzma |
T |
A |
13: 113,232,518 (GRCm39) |
I131F |
probably damaging |
Het |
Helq |
A |
T |
5: 100,919,745 (GRCm39) |
L35* |
probably null |
Het |
Hnrnpll |
T |
C |
17: 80,346,052 (GRCm39) |
N403S |
probably damaging |
Het |
Hsf5 |
A |
G |
11: 87,526,881 (GRCm39) |
K518E |
probably benign |
Het |
Ighe |
T |
A |
12: 113,235,470 (GRCm39) |
H258L |
unknown |
Het |
Il6ra |
T |
C |
3: 89,797,579 (GRCm39) |
D96G |
probably benign |
Het |
Ints13 |
C |
T |
6: 146,468,109 (GRCm39) |
A129T |
possibly damaging |
Het |
Ipo7 |
T |
A |
7: 109,641,316 (GRCm39) |
H345Q |
probably damaging |
Het |
Kcna2 |
A |
T |
3: 107,011,828 (GRCm39) |
E136D |
probably benign |
Het |
Kif5a |
G |
A |
10: 127,072,684 (GRCm39) |
Q702* |
probably null |
Het |
Klhdc7a |
G |
T |
4: 139,694,381 (GRCm39) |
P189T |
probably benign |
Het |
Krtap4-9 |
A |
G |
11: 99,676,222 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,815,594 (GRCm39) |
S1097P |
possibly damaging |
Het |
Ldlrad2 |
A |
T |
4: 137,299,481 (GRCm39) |
N114K |
probably benign |
Het |
Lrfn1 |
A |
T |
7: 28,159,193 (GRCm39) |
I371L |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,161,242 (GRCm39) |
V240A |
probably benign |
Het |
Lypd1 |
A |
T |
1: 125,801,108 (GRCm39) |
|
probably benign |
Het |
Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,621 (GRCm39) |
N354S |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,732,939 (GRCm39) |
Y514H |
possibly damaging |
Het |
Med15 |
T |
C |
16: 17,471,426 (GRCm39) |
D577G |
probably benign |
Het |
Mroh4 |
A |
T |
15: 74,487,962 (GRCm39) |
M320K |
probably benign |
Het |
Ms4a10 |
T |
A |
19: 10,941,411 (GRCm39) |
D186V |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,210,637 (GRCm39) |
N1725S |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,180,835 (GRCm39) |
R741S |
probably damaging |
Het |
Naa80 |
G |
A |
9: 107,460,216 (GRCm39) |
R37H |
possibly damaging |
Het |
Naip6 |
T |
C |
13: 100,452,644 (GRCm39) |
D139G |
probably damaging |
Het |
Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
Or2p2 |
A |
T |
13: 21,256,595 (GRCm39) |
L292* |
probably null |
Het |
Or4a79 |
A |
T |
2: 89,552,053 (GRCm39) |
M134K |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,821,137 (GRCm39) |
I13F |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,434,370 (GRCm39) |
D112G |
probably benign |
Het |
Pdpr |
C |
A |
8: 111,861,366 (GRCm39) |
P787T |
probably damaging |
Het |
Pgm3 |
C |
T |
9: 86,451,286 (GRCm39) |
V123I |
probably benign |
Het |
Pms1 |
A |
C |
1: 53,231,257 (GRCm39) |
|
probably null |
Het |
Prl2b1 |
A |
G |
13: 27,572,549 (GRCm39) |
S14P |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,177,242 (GRCm39) |
W212R |
probably damaging |
Het |
Rabgef1 |
A |
G |
5: 130,241,862 (GRCm39) |
E422G |
probably benign |
Het |
Ralyl |
A |
G |
3: 14,208,472 (GRCm39) |
E204G |
probably damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Rbpms2 |
TGCCGCCGCC |
TGCCGCCGCCGCC |
9: 65,558,962 (GRCm39) |
|
probably benign |
Het |
Rit1 |
C |
G |
3: 88,636,477 (GRCm39) |
T127S |
probably damaging |
Het |
Slc16a7 |
C |
T |
10: 125,067,067 (GRCm39) |
V191M |
probably damaging |
Het |
Slc34a2 |
A |
T |
5: 53,215,778 (GRCm39) |
H63L |
probably benign |
Het |
Smpd4 |
G |
A |
16: 17,460,166 (GRCm39) |
|
probably null |
Het |
Sp3 |
A |
G |
2: 72,768,520 (GRCm39) |
S748P |
possibly damaging |
Het |
Spata31d1b |
G |
A |
13: 59,863,671 (GRCm39) |
C273Y |
probably benign |
Het |
Spata31d1b |
G |
A |
13: 59,865,279 (GRCm39) |
R809K |
probably benign |
Het |
Tmco5 |
A |
T |
2: 116,711,360 (GRCm39) |
E90V |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,897,884 (GRCm39) |
D844V |
probably damaging |
Het |
Tpi1 |
T |
C |
6: 124,791,115 (GRCm39) |
T41A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,557,536 (GRCm39) |
I29853V |
probably damaging |
Het |
Vmn2r26 |
C |
T |
6: 124,001,730 (GRCm39) |
T5I |
probably benign |
Het |
Wdr95 |
A |
G |
5: 149,522,831 (GRCm39) |
D663G |
probably benign |
Het |
Zbtb39 |
T |
C |
10: 127,578,569 (GRCm39) |
F381S |
probably damaging |
Het |
Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,478,911 (GRCm39) |
Y363N |
probably damaging |
Het |
Zfp712 |
A |
C |
13: 67,190,111 (GRCm39) |
C139G |
probably damaging |
Het |
Zfp958 |
A |
G |
8: 4,678,590 (GRCm39) |
H205R |
probably damaging |
Het |
Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
possibly damaging |
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 |
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'- CAATGATACGGTCCTCACTTGAAG -3'
(R):5'- TTATGGGGTAGACCGAAAGC -3'
Sequencing Primer
(F):5'- ACGGTCCTCACTTGAAGAAATG -3'
(R):5'- GGTAGACCGAAAGCAGTCTTC -3'
|
Posted On |
2014-06-23 |