Incidental Mutation 'R0559:Ctnna2'
ID |
45789 |
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 |
038751-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R0559 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76892833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 785
(K785E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
AlphaFold |
Q61301 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075340
AA Change: K772E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074809 Gene: ENSMUSG00000063063 AA Change: K772E
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: K772E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124376 Gene: ENSMUSG00000063063 AA Change: K772E
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: K785E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124764 Gene: ENSMUSG00000063063 AA Change: K785E
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: K785E
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000123714 Gene: ENSMUSG00000063063 AA Change: K785E
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
|
SMART Domains |
Protein: ENSMUSP00000144890 Gene: ENSMUSG00000063063
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
2 |
232 |
2.9e-94 |
PFAM |
|
Meta Mutation Damage Score |
0.4122 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (34/35) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
Zgpat |
T |
C |
2: 181,021,985 (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 |
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'- AGTCACAGCTTGGCAATGAGTTTCC -3'
(R):5'- AGTCTGGCATTTCTCCAGTGCATC -3'
Sequencing Primer
(F):5'- GCCAAGAATGCTTGCCTTAG -3'
(R):5'- TCTCCAGTGCATCATGGAAAAG -3'
|
Posted On |
2013-06-11 |